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Extract By Encounter Type

Encounter: Antenatal SpecialtyData Element Name BORN ID Data Element Definition Pick List Value Pick List Definition

Alcohol Exposure in Pregnancy

D0012 Self-reported alcohol consumption during pregnancy. A standardized serving of alcohol beverage is approx a 12oz serving of regular beer (5%), a 5oz glass of wine (12%) or a 1.5oz glass of 40% spirit (SOGC, 2010). If the amount of drinking varied over the course of the pregnancy, estimate the total number of drinks and average it out over the entire pregnancy. Select the one that represents the highest exposure or impact. 'Episodic excessive drinking (binging)'is considered the greatest impact.

None

Less than one drink per month

One drink per month

2-3 drinks per month

One drink per week

More than one drink per week

Episodic excessive drinking (binging) Binge drinking corresponds to an average-size female consuming 4 or more drinks in about 2 hours (SOGC, 2010). If mother reported drinking 'More than one drink per week' and binge drinking, select "Episodic excessive drinking (binging)'.

Exposure prior to pregnancy confirmed, amount unknown

Select if mother drank in first trimester and/or until she learned of her pregnancy.

Unknown

Chorionicity CHORION 1 chorion

2 chorion

3 chorion

4 chorion

Unknown

Complications of Pregnancy

M0531 Pregnancy related complications experienced during this pregnancy. Select all that apply.

None

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Complications of Pregnancy

M0531 Pregnancy related complications experienced during this pregnancy. Select all that apply.

Fetal \ Anomaly(ies)

Fetal \ Isoimmunization/Alloimmunization

Fetal \ Intrauterine Growth Restriction

Fetal \ LGA

Fetal \ Oligohydramnios

Fetal \ Polyhydramnios

Fetal \ Other

Maternal \ Anemia unresponsive to therapy

Maternal \ Antepartum Bleeding (Persistent and unexplained)

Maternal \ Gestational diabetes

Maternal \ Hyperemesis Gravidarum (Requiring Hospital Admission)

Maternal \ Hypertensive Disorders in Pregnancy

Maternal \ Prelabour rupture of membranes (PROM)

Maternal \ Preterm labour prior to this admission

Maternal \ Preterm prelabour rupture of membranes (PPROM)

Maternal \ Other

Placental \ Placenta accreta

Placental \ Placenta increta

Placental \ Placenta percreta

Placental \ Placenta previa

Placental \ Placental Abruption

Placental \ Other

Unknown

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Consanguinity FAN0019 Refers to maternal and paternal sharing of at least one ancestor in common. (Cunningham, 2005)

Cytogenetic Result Failure Reason

FAN1007FAIL Indicates the reason(s) that a cytogenetic investigation failed (for example, culture failure, etc)

Cytogenetic Result General

FAN1007 Indicates whether the individual's cytogenic results were normal or abnormal

Abnormal

Abnormal, specify:

Failed

Failed, specify reason

Normal

Normal, polymorphism detected

Variant of uncertain significance

Unknown

Cytogenetic Testing Disease Identifier

FAN1006ODI The chromosome region that was interrogated for deletion or duplication by FISH

22q11.2 deletion / DiGeorge syndrome 1, velocardiofacial 1

1p36 deletion syndrome

8q23.2-q24.1 deletion / Langer-Giedion syndrome

20p12 deletion / Alagille syndrome

Xp22.31 deletion / X-linked ichthyosis

10p13-p14 deletion / velocardiofacial 2

1q21 deletion / thrombocytopenia absent radius

11p15.5 deletion / Beckwith-Wiedemann syndrome

8q12.2 deletion or duplication / CHARGE syndrome

Duplication 7q11.23

Xq28 duplication / MECP2 duplication MR syndrome

22q11.2 duplication

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Cytogenetic Testing Disease Identifier

FAN1006ODI The chromosome region that was interrogated for deletion or duplication by FISH

1q21.1 duplication

3q29 duplication

7q11.23 duplication

15q11-13 duplication

15q13.2-13.3 duplication

16p13.11 duplication

17p11.2 duplication

17q21.31 duplication

Other, free text:

Unknown

Cytogenetic Testing Disease Identifier Other

FAN1006ODIOTHER The name of the disease / region of the genome (in ISCN nomenclature) that was interrogated for deletion or duplication by FISH entered in free text

Cytogenetic Testing Method Performed

FAN1006 The method used to interrogate the individuals genome for imbalances or rearrangements

Karyotype

Microarray

Cytogenetic testing result specific

FAN1008 The result, in general terms, of the cytogenetic test performed






17p11.2 duplication



1q21 deletion / thrombocytopenia absent radius

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1q21.1 duplication



22q11.2 duplication

3q29 duplication

45, X (Turner syndrome)

45, X, mosaic

46, XX

46, XX (normal)

46, XY

46, XY (normal)

47, XX, +21 (trisomy 21 or Down syndrome)

47, XXX

47, XXY (Klinefelter syndrome)

47, XY, +21 (trisomy 21 or Down syndrome)

47, XYY

7q11.23 duplication



Down syndrome, mosaic

Duplication 7q11.23

Inversion, balanced

Inversion, unbalanced

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Marker chromosome

Mosaicism, specify:

Specify

Translocation, balanced

Translocation, unbalanced

Trisomy 13, mosaic

Trisomy 16, mosaic

Trisomy 18, mosaic



Other, free text:

Unknown

Cytogenetic testing result specific Other (free text in ISCN nomenclature)

FAN1009 The detailed results of the cytogenetic test performed in ISCN nomenclature when the result is not available in the pick list. For example, 45, XX, rob(13;21)(q10;q10) (balanced Robertsonian translocation) or arr cgh 22q11.2(D22S75)X1 (abnormal microarray)

Date of First Abnormal U/S

FAN0022 Date of first ultrasound yielding abnormal results in standard date format.

Date of First Tertiary(High Risk) Centre Ultrasound

FAN0015 Date of first high-risk centre ultrasound in standard date format.

Date of First Visit to FMU NEW0010 Date of visit with Fetal Medicine Unit in current pregnancy using standard date format.

Date of First Visit to FMU Is Unknown

NEW0010UN Indicates that the date of first visit to Fetal Medicine Unit is unknown

Date of First Visit to Prenatal Genetics

FAN0020 Date of mother's first visit to prenatal genetics unit in current pregnancy

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Date of First Visit to Prenatal Genetics Is Unknown

FAN0020UN Indicates that the date of mother's first visit to prenatal genetics unit is unknown

Date of Referral to Prenatal Genetics

NEW0007-1 Indicates date when mother was referred to prenatal genetics during current pregnancy.

Date of Referral to Prenatal Genetics Is Unknown

NEW0007-1UN Indicates that the date when mother was referred to prenatal genetics is unknown

Date prenatal PRBC transfusion

D0072 The date that the prenatal (in utero) PRBC transfusion was performed (if there were multiple performed, enter the most recent)

Diabetes and Pregnancy D0013 Indicate Maternal diabetic status during this pregnancy Diabetes Complications/Comorbidities \ Nephropathy

Diabetes Complications/Comorbidities \ Retinopathy

None

Gestational diabetes \ Insulin \ ACE inhibitors

Gestational diabetes \ Insulin \ Statins

Gestational diabetes \ Insulin \ No Ace Inhibitors or Statins

Gestational diabetes \ No Insulin \ No Oral agents

Gestational diabetes \ No Insulin \ Oral Antihyperglycemic Agents

Gestational diabetes \ Insulin Status Unknown

Type I

Type II \ Insulin \ ACE inhibitors

Type II \ Insulin \ Statins

Type II \ Insulin \ No Ace Inhibitors or Statins

Type II \ No Insulin \ No Oral Agents

Type II \ No Insulin \ Oral Antihyperglycemic Agents

Type Unknown

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Diabetes and Pregnancy D0013 Indicate Maternal diabetic status during this pregnancy Unknown

Drug and Substance Exposure in Pregnancy

D0014 Indicate Maternal self-reported drug and substance use during pregnancy. This refers to the use of street drugs and the inappropriate use of prescription and non-prescription drugs.

None

Cocaine Street names include: snow, powder lines, freebase, c, dust, crack, rock, coke, flake, blow.

Gas/Glue

Hallucinogens Types of hallucinogens include: LSD, mescaline, psilocybin, PCP, cannabis, ecstasy, ketamine, salvia and others.

Opioids A type of drug used to relieve pain. Examples include: morphine, codeine, fentanyl, oxycodone, heroin, and hydromorphone.

Other For example, crystal meth

Unknown

Early Pregnancy/Detailed Anatomy Scan Date

FAN0010-1 Date of scan

Early Pregnancy/Detailed Anatomy Scan GA

FAN0010-2 GA at the time of scan

Early Pregnancy/Detailed Anatomy Scan Location

FAN0010-4 Location of scan Community ultrasound department

Tertiary centre or FMU unit

Unknown

Early Pregnancy/Detailed Anatomy Scan Result

FAN0010 Ultrasound scan for direct visualization of fetal structures for the purposes of monitoring fetal growth and detecting/monitoring congenital anomalies.

Normal - no anomaly detected

Abdominal Wall \ Bladder exstrophy

Abdominal Wall \ Cloacal exstrophy

Abdominal Wall \ Gastroschisis

Abdominal Wall \ Limb body wall complex (body stalk anomaly)

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Abdominal Wall \ Not well seen

Abdominal Wall \ Omphalocele (exomphalos)

Abdominal Wall \ Other congenital malformations of abdominal wall

Abdominal Wall \ Pentalogy of Cantrell

Abdominal Wall \ Umbilical hernia

Abdominal Wall \ Umbilical Cord Cyst

Cardiovascular \ Absent Fetal Heart Beat

Cardiovascular \ Aorta - pulmonary window

Cardiovascular \ Aortic arch - double

Cardiovascular \ Aortic arch - hypoplastic

Cardiovascular \ Aortic arch - interrupted

Cardiovascular \ Aortic atresia

Cardiovascular \ Aortic valve insufficiency

Cardiovascular \ Aortic valve stenosis

Cardiovascular \ Arrhythmia

Cardiovascular \ Atrial fibrillation

Cardiovascular \ Atrial septal defect (ASD)

Cardiovascular \ Atrioventricular septal defect (AVSD) {endocardial cushion defect}

Cardiovascular \ Bilateral SVC (superior venae cava)

Cardiovascular \ Bradycardia (bradyarrhythmia)

Cardiovascular \ Cardiac dysfunction

Cardiovascular \ Cardiac tumour / mass

Cardiovascular \ Cardiomegaly

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Cardiovascular \ Cardiomyopathy - dilated

Cardiovascular \ Cardiomyopathy - fetus of diabetic mother

Cardiovascular \ Cardiomyopathy - hypertrophic (HOCM)

Cardiovascular \ Coarctation of aorta

Cardiovascular \ Common atrium

Cardiovascular \ Complete Heart Block

Cardiovascular \ Incomplete Congenital heart block (CHB)

Cardiovascular \ Coronary artery fistula

Cardiovascular \ Dextrocardia

Cardiovascular \ Dilated ascending aorta

Cardiovascular \ Diverticulum - LV

Cardiovascular \ Diverticulum - RV

Cardiovascular \ Double inlet ventricle (DIV)

Cardiovascular \ Double outlet ventricle (DOV)

Cardiovascular \ Ductus arteriosus aneurysm

Cardiovascular \ Ductus arteriosus - premature closure

Cardiovascular \ Ductus venosus - agenesis

Cardiovascular \ Ebstein anomaly

Cardiovascular \ Echogenic intracardiac focus - Rt Ventricle

Cardiovascular \ Echogenic intracardiac focus - Lt Ventricle

Cardiovascular \ Echogenic intracardiac focus - Rt Atrium

Cardiovascular \ Echogenic intracardiac focus - Lt Atrium

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Cardiovascular \ Echogenic intracardiac focus - Not otherwise specified

Cardiovascular \ Ectopia cordis

Cardiovascular \ Endocardial fibroelastosis (EFE)

Cardiovascular \ Fibroma - cardiac

Cardiovascular \ Hypoplastic left heart syndrome (HLHS)

Cardiovascular \ Hypoplastic right heart syndrome (HRHS)

Cardiovascular \ Interrupted IVC (superior vena cava)

Cardiovascular \ Left atrial isomerism (heterotaxy)

Cardiovascular \ Mitral regurgitation

Cardiovascular \ Mitral stenosis

Cardiovascular \ Mitral valve dysplasia

Cardiovascular \ Not well seen

Cardiovascular \ Other - cardiac malformations not classified elsewhere

Cardiovascular \ Partial anomalous pulmonary venous drainage (PAPVD)

Cardiovascular \ Pericardial/Paracardial cyst

Cardiovascular \ Pericardial effusion - mild

Cardiovascular \ Pericardial effusion - moderate

Cardiovascular \ Pericardial effusion - severe

Cardiovascular \ Persistent left SVC (superior vena cava)

Cardiovascular \ Premature atrial contractions (PAC's)

Cardiovascular \ Premature closure of atrial septum (PFO)

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Cardiovascular \ Premature ventricular contractions (PVC's)

Cardiovascular \ Pulmonary (valve) atresia

Cardiovascular \ Pulmonary (valve) stenosis (PS)

Cardiovascular \ Pulmonary insufficiency

Cardiovascular \ Pulmonary valve dysplasia

Cardiovascular \ Rhabdomyoma(s) - cardiac

Cardiovascular \ Right aortic arch

Cardiovascular \ Right atrial isomerism (heterotaxy)

Cardiovascular \ Scimitar syndrome

Cardiovascular \ Shone's syndrome

Cardiovascular \ Single outlet ventricle

Cardiovascular \ Single ventricle (univentricular heart)

Cardiovascular \ Situs inversus - cardiac

Cardiovascular \ Subaortic stenosis

Cardiovascular \ Supra ventricular tachycardia (SVT)

Cardiovascular \ Tachycardia (tachyarrhythmia)

Cardiovascular \ Tetralogy of Fallot (TOF)

Cardiovascular \ Total anomalous pulmonary venous drainage (TAPVD)

Cardiovascular \ Tricuspid atresia

Cardiovascular \ Transposition of great arteries - congenitally corrected (CCTGA)

Cardiovascular \ Transposition of great vessels (TGA)

Cardiovascular \ Tricuspid Valve regurgitation

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Cardiovascular \ Tricuspid stenosis

Cardiovascular \ Tricuspid valve dysplasia

Cardiovascular \ Truncus arteriosis

Cardiovascular \ Vascular ring

Cardiovascular \ Ventricular septal defect (VSD)

Cardiovascular \ Ventricular tachycardia

Extremities-skeletal \ Arms/legs-Bowed femur

Extremities-skeletal \ Arms/legs-Bowed humerus

Extremities-skeletal \ Arms/legs-Bowed radius &/or ulna

Extremities-skeletal \ Arms/legs-Bowed tibia &/or fibula

Extremities-skeletal \ Arms/legs-Fracture(s) - long bones

Extremities-skeletal \ Arms/legs-Short Femurs <2.5 %ile - Left

Extremities-skeletal \ Arms/legs-Short Femurs <2.5 %ile - Right

Extremities-skeletal \ Arms/legs-Short Femurs <2.5 %ile - Bilateral

Extremities-skeletal \ Arms/legs-Short Humerus - Left

Extremities-skeletal \ Arms/legs-Short Humerus - Right

Extremities-skeletal \ Arms/legs-Short Humerus - Bilateral

Extremities-skeletal \ Hands/feet-Adactyly (absent fingers/ toes)

Extremities-skeletal \ Hands/feet-Brachydactyly (short fingers/toes)

Extremities-skeletal \ Hands/feet-Clenched hands (persistently)

Extremities-skeletal \ Hands/feet-Overlapping Fingers

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Extremities-skeletal \ Hands/feet-Clinodactyly - Overlapping Fingers

Extremities-skeletal \ Hands/feet-Clinodactyly - Overlapping Fingers - Right

Extremities-skeletal \ Hands/feet-Clinodactyly - Overlapping Fingers - Left

Extremities-skeletal \ Hands/feet-Clinodactyly - Overlapping Fingers - Bilateral

Extremities-skeletal \ Hands/feet-Club foot

Extremities-skeletal \ Hands/feet-Ectrodactyly (lobster-claw / cleft hand)

Extremities-skeletal \ Hands/feet-Polydactyly (feet)

Extremities-skeletal \ Hands/feet-Polydactyly (hands)

Extremities-skeletal \ Hands/feet-Radial ray anomaly (absent thumb)

Extremities-skeletal \ Hands/feet-Rocker-bottom feet

Extremities-skeletal \ Hands/feet-Sandal gap toes - Right

Extremities-skeletal \ Hands/feet-Sandal gap toes - Left

Extremities-skeletal \ Hands/feet-Sandal gap toes - Bilateral

Extremities-skeletal \ Other - malformations of the musculoskeletal system

Extremities-skeletal \ Other-Akinesia deformation sequence - fetal (FADS)

Extremities-skeletal \ Other-Arthrogryposis multiplex congenita

Extremities-skeletal \ Other-Congenital malformations of spine & bony thorax

Extremities-skeletal \ Other-Fixed flexion deformity

Extremities-skeletal \ Other-Fracture(s) - ribs

Extremities-skeletal \ Other-Hypomineralization

Extremities-skeletal \ Other-Limb reduction defect(s) (LRD) - lower limb

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Extremities-skeletal \ Other-Limb reduction defect(s) (LRD) - upper limb

Extremities-skeletal \ Other-Malformation of sternum

Extremities-skeletal \ Other-Phocomelia

Extremities-skeletal \ Other-Sirenomelia

Extremities-skeletal \ Other-Skeletal dysplasia -other

Extremities-skeletal \ Not well seen

Face \ EARS-Ears - abnormal/other

Face \ EARS-Ears - absent (anotia)

Face \ EARS-Ears - low set

Face \ EARS-Ears - small (microtia) - Right

Face \ EARS-Ears - small (microtia) - Left

Face \ EARS-Ears - small (microtia) - Bilateral

Face \ EYES-Anophthalmia

Face \ EYES-Congenital cataract

Face \ EYES-Cyclops

Face \ EYES-Eyes - abnormal/other

Face \ EYES-Hypertelorism

Face \ EYES-Hypotelorism

Face \ EYES-Macrophthalmia

Face \ EYES-Microphthalmia

Face \ EYES-Retinoblastoma

Face \ MOUTH-Cleft lip

Face \ MOUTH-Cleft lip & palate

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Face \ MOUTH-Cleft palate

Face \ MOUTH-Flat face

Face \ MOUTH-Macroglossia

Face \ MOUTH-Micrognathia

Face \ MOUTH-Mouth - abnormal/other

Face \ MOUTH-Retrognathia

Face \ NOSE-Absent nose

Face \ NOSE-Hypoplastic nasal bone (NB)

Face \ NOSE-Absent nasal bone (NB)

Face \ NOSE-Choanal atresia

Face \ NOSE-Nose - abnormal/other

Face \ NOSE-Proboscis

Face \ NOSE-Single nostril

Face \ Other - malformations of the face

Face \ Frontomaxillary Facial Angle - Abnormal

Face \ Tumour of face

Face \ Not well seen

Gastrointestinal \ Bowel obstruction small or large intestine

Gastrointestinal \ Absent (not visible) stomach

Gastrointestinal \ Absent gallbladder

Gastrointestinal \ Adrenal cyst(s)

Gastrointestinal \ Ascites

Gastrointestinal \ Asplenia

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Gastrointestinal \ Biliary atresia

Gastrointestinal \ Choledochal cyst(s)

Gastrointestinal \ Dilated Bowel

Gastrointestinal \ Dilated gallbladder

Gastrointestinal \ Dilated stomach

Gastrointestinal \ Double bubble

Gastrointestinal \ Duodenal atresia

Gastrointestinal \ Echogenic bowel - grade I (less bright than bone)

Gastrointestinal \ Echogenic bowel - grade II (as bright as bone)

Gastrointestinal \ Echogenic bowel - grade III (brighter than bone)

Gastrointestinal \ Echogenic foci in abdomen

Gastrointestinal \ Echogenic foci in liver

Gastrointestinal \ Esophageal atresia

Gastrointestinal \ Esophageal diverticulum

Gastrointestinal \ Hepatomegaly

Gastrointestinal \ Hirschsprung's disease

Gastrointestinal \ Hyperperistalsis

Gastrointestinal \ Intra-abdominal cyst(s)

Gastrointestinal \ Liver cyst(s)

Gastrointestinal \ Liver nodule

Gastrointestinal \ Meconium ileus

Gastrointestinal \ Meconium peritonitis

Gastrointestinal \ Mesenteric cyst

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Gastrointestinal \ Not well seen

Gastrointestinal \ Other - malformations of the gastro-intestinal tract

Gastrointestinal \ Ovarian cyst(s)

Gastrointestinal \ Pancreatic cyst(s)

Gastrointestinal \ Perinatal intestinal perforation

Gastrointestinal \ Polysplenia

Gastrointestinal \ Pyloric stenosis

Gastrointestinal \ Situs inversus - abdominal

Gastrointestinal \ Splenomegaly

Gastrointestinal \ Tracheo-esophageal fistula (TEF)

Genitourinary tract \ Ambiguous genitalia / indeterminate sex

Genitourinary tract \ Autosomal dominant polycystic kidney disease (ADPKD)

Genitourinary tract \ Autosomal recessive polycystic kidney disease (ARPKD)

Genitourinary tract \ Bladder diverticulum

Genitourinary tract \ Bladder exstrophy

Genitourinary tract \ Cloacal dysgenesis

Genitourinary tract \ Cloacal exstrophy

Genitourinary tract \ Cystic kidney(s) - other

Genitourinary tract \ Duplex kidney/collecting system

Genitourinary tract \ Echogenic kidney(s)

Genitourinary tract \ Ectopic/pelvic kidney

Genitourinary tract \ Horseshoe Kidney

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Genitourinary tract \ Hydrocoele

Genitourinary tract \ Hydronephrosis (>10 mm)- Right

Genitourinary tract \ Hydronephrosis (>10 mm)- Left

Genitourinary tract \ Hydronephrosis (>10 mm)- Bilateral

Genitourinary tract \ Hydronephrosis (>10 mm)

Genitourinary tract \ Hyperplastic & giant kidney(s)

Genitourinary tract \ Hypoplastic kidney(s)

Genitourinary tract \ Hypospadias

Genitourinary tract \ Lower urinary tract obstruction (LUTO)

Genitourinary tract \ Megacystis

Genitourinary tract \ Megaureter

Genitourinary tract \ Multicystic kidney disease (MCKD)

Genitourinary tract \ Not well seen

Genitourinary tract \ Other - malformations of female genitalia

Genitourinary tract \ Other - malformations of male genitalia

Genitourinary tract \ Other - malformations of urinary system

Genitourinary tract \ Posterior urethral valves (PUV)

Genitourinary tract \ Prune belly

Genitourinary tract \ Pyelectasis (pelviectasis) (5 - 9.9 mm AP diameter)

Genitourinary tract \ Pyelectasis (pelviectasis) (5 - 9.9 mm AP diameter)- Right

Genitourinary tract \ Pyelectasis (pelviectasis) (5 - 9.9 mm AP diameter) - Left

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Genitourinary tract \ Pyelectasis (pelviectasis) (5 - 9.9 mm AP diameter) - Bilateral

Genitourinary tract \ Renal agenesis

Genitourinary tract \ Renal cyst

Genitourinary tract \ Renal dysplasia

Genitourinary tract \ Ureterocoele

Genitourinary tract \ Urethral atresia

Genitourinary tract \ Urethral obstruction malformation complex

Head-Cranium & Brain \ Absent cerebellar vermis

Head-Cranium & Brain \ Absent cerebellum

Head-Cranium & Brain \ Acrania

Head-Cranium & Brain \ Agenesis of corpus callosum (ACC)

Head-Cranium & Brain \ Anencephaly

Head-Cranium & Brain \ Aqueductal stenosis

Head-Cranium & Brain \ Arachnoid cyst(s)

Head-Cranium & Brain \ Arhinencephaly

Head-Cranium & Brain \ Arnold Chiari malformation

Head-Cranium & Brain \ Atresia of foramina of Magendie & Luschka

Head-Cranium & Brain \ Banana cerebellum

Head-Cranium & Brain \ Brachycephaly

Head-Cranium & Brain \ Brain tumor

Head-Cranium & Brain \ Calcification - intracranial

Head-Cranium & Brain \ Cavum Septi Pellucidum (CSP) absent

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Head-Cranium & Brain \ Cerebellar & posterior fossa haemorrhage

Head-Cranium & Brain \ Cerebral AVM (arteriovenous malformation)

Head-Cranium & Brain \ Choroid plexus cyst(s) (CPC) - Unilateral

Head-Cranium & Brain \ Choroid plexus cyst(s) (CPC) - Bilateral

Head-Cranium & Brain \ Choroid plexus cyst(s) (CPC) - Single

Head-Cranium & Brain \ Choroid plexus cyst(s) (CPC) - Multiple

Head-Cranium & Brain \ Cloverleaf shaped head

Head-Cranium & Brain \ Congenital cerebral cysts

Head-Cranium & Brain \ Craniorachischisis

Head-Cranium & Brain \ Craniosynostosis

Head-Cranium & Brain \ Dandy-Walker malformation / variant (DWM)

Head-Cranium & Brain \ Dolichocephaly

Head-Cranium & Brain \ Encephalocele

Head-Cranium & Brain \ Enlarged cisterna magna

Head-Cranium & Brain \ Exencephaly

Head-Cranium & Brain \ Holoprosencephaly

Head-Cranium & Brain \ Hydranencephaly

Head-Cranium & Brain \ Hydrocephalus

Head-Cranium & Brain \ Iniencephaly

Head-Cranium & Brain \ Intracerebral haemorrhage

Head-Cranium & Brain \ Intraventricular haemorrhage (IVH)

Head-Cranium & Brain \ Lemon shaped head

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Head-Cranium & Brain \ Lissenchephaly

Head-Cranium & Brain \ Macrocephaly

Head-Cranium & Brain \ Megalencephaly

Head-Cranium & Brain \ Microcephaly

Head-Cranium & Brain \ Not well seen

Head-Cranium & Brain \ Other - malformations of the head & brain

Head-Cranium & Brain \ Plagiocephaly

Head-Cranium & Brain \ Porencephalic cyst(s)

Head-Cranium & Brain \ Posterior fossa cyst

Head-Cranium & Brain \ Prominent forehead

Head-Cranium & Brain \ Prominent occiput

Head-Cranium & Brain \ Septo-optic dysplasia

Head-Cranium & Brain \ Small cerebellum

Head-Cranium & Brain \ Strawberry shaped head

Head-Cranium & Brain \ Subarachnoid haemorrhage

Head-Cranium & Brain \ Vein of Galen aneurysm/malformation

Head-Cranium & Brain \ Ventriculomegaly - mild (10-15 mm) - Right

Head-Cranium & Brain \ Ventriculomegaly - severe (>15 mm) - Right

Head-Cranium & Brain \ Ventriculomegaly - mild (10-15 mm) - Left

Head-Cranium & Brain \ Ventriculomegaly - severe (>15 mm) - Left

Head-Cranium & Brain \ Ventriculomegaly - mild (10-15 mm) - Bilateral

Head-Cranium & Brain \ Ventriculomegaly - severe (>15 mm) - Bilateral

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Neck \ Cervical teratoma

Neck \ Cystic hygroma - Mild

Neck \ Cystic hygroma - Moderate

Neck \ Cystic hygroma - Severe

Neck \ Cystic hygroma - Septated

Neck \ Cystic hygroma - Non Septated

Neck \ Increased nuchal fold / edema

Neck \ Increased nuchal translucency (NT) (>3.5mm)

Neck \ Increased nuchal translucency (NT) (3.0-3.4mm)

Neck \ Neck tumour-other

Neck \ Not well seen

Neck \ Other - malformations of the neck

Spine / Back \ Ankylosing spondylitis

Spine / Back \ Caudal regression syndrome

Spine / Back \ NTD (neural tube defect) with hydrocephalus

Spine / Back \ NTD (neural tube defect) without hydrocephalus

Spine / Back \ Not well seen

Spine / Back \ Other - malformations of the spine

Spine / Back \ Sacral agenesis

Spine / Back \ Sacrococcygeal teratoma (SCT)

Spine / Back \ Sirenomelia

Structural-other \ Amniotic Bands

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Structural-other \ Body stalk anomaly

Structural-other \ Hydrops Fetalis

Structural-other \ Not well seen

Structural-other \ Other - malformations not classified elsewhere

Structural-other \ Two vessel cord - Unspecified

Structural-other \ Two vessel cord - Right Artery Absent

Structural-other \ Two vessel cord - Left Artery Absent

Thorax \ Agenesis of lung

Thorax \ Bronchopulmonary sequestration (BPS)

Thorax \ Chest wall deformity

Thorax \ Congenital cystic adenomatoid malformation of lung (CCAML)

Thorax \ Congenital diaphragmatic hernia (CDH)

Thorax \ Congenital high airway obstruction (CHAOS)

Thorax \ Echogenic lung(s)

Thorax \ Eventration of diaphragm

Thorax \ Lung cysts-other

Thorax \ Not well seen

Thorax \ Other - congenital malformations of lung

Thorax \ Other congenital malformations of diaphragm

Thorax \ Pectus carinatum

Thorax \ Pectus excavatum

Thorax \ Pleural effusion(s) (hydrothorax) - >3mm

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Thorax \ Pleural effusion(s) (hydrothorax) - Right

Thorax \ Pleural effusion(s) (hydrothorax) - Left

Thorax \ Pleural effusion(s) (hydrothorax) - Bilateral

Thorax \ Pleural effusion(s) (hydrothorax) - Mild

Thorax \ Pleural effusion(s) (hydrothorax) - Moderate

Thorax \ Pleural effusion(s) (hydrothorax) - Severe

Thorax \ Pulmonary hypoplasia

Twins \ Acardiac twin

Twins \ Conjoined twins

Twins \ Dichorionic (DC) twins

Twins \ Discordant DC twin growth

Twins \ Discordant MC twin growth

Twins \ Discordant twin anomaly

Twins \ Mono-amniotic (MA) twins

Twins \ Monochorionic diamniotic (MC/DA) twins

Twins \ Other - malformations of twins

Twins \ Twin-twin transfusion syndrome (TTTS)

Other Soft Markers / Obstetrical Imaging Findings \ Polyhydramnios - Not Othewise Specified

Other Soft Markers / Obstetrical Imaging Findings \ Polyhydramnios - Mild

Other Soft Markers / Obstetrical Imaging Findings \ Polyhydramnios - Moderate

Other Soft Markers / Obstetrical Imaging Findings \ Polyhydramnios - Severe

August 13, 2019 of 142




Other Soft Markers / Obstetrical Imaging Findings \ Oligohydramnios - Not Othewise Specified

Other Soft Markers / Obstetrical Imaging Findings \ Oligohydramnios - Mild

Other Soft Markers / Obstetrical Imaging Findings \ Oligohydramnios - Moderate

Other Soft Markers / Obstetrical Imaging Findings \ Oligohydramnios - Severe

Other Soft Markers / Obstetrical Imaging Findings \ Anhydramnios

Other Soft Markers / Obstetrical Imaging Findings \ Intrauterine growth restriction - Mild

Other Soft Markers / Obstetrical Imaging Findings \ Intrauterine growth restriction - Moderate

Other Soft Markers / Obstetrical Imaging Findings \ Intrauterine growth restriction - Severe

Other Soft Markers / Obstetrical Imaging Findings \ Intrauterine growth restriction - Symetrical

Other Soft Markers / Obstetrical Imaging Findings \ Intrauterine growth restriction - Asymetrical

Other Soft Markers / Obstetrical Imaging Findings \ Not well seen

Other Soft Markers / Obstetrical Imaging Findings \ Uterine artery notching - Unspecified

Other Soft Markers / Obstetrical Imaging Findings \ Uterine artery notching - right

Other Soft Markers / Obstetrical Imaging Findings \ Uterine artery notching - left

Other Soft Markers / Obstetrical Imaging Findings \ Uterine artery notching - bilateral

Other Soft Markers / Obstetrical Imaging Findings \ Placental thickness

Other Soft Markers / Obstetrical Imaging Findings \ Iliac angle abnormal

Other Soft Markers / Obstetrical Imaging Findings \ Echogenic Yolk Sac

August 13, 2019 of 142




Other Soft Markers / Obstetrical Imaging Findings \ Ductus venous blood flow - Abnormal (Reversed)

Early Pregnancy/Detailed Anatomy Scan Type

FAN0010-3 Type of scan Echo

MRI

Ultrasound

Unknown

EDB Determined By NEW0005 Method by which the estimated date of birth was determined for prenatal screening

Last menstrual period

1st trimester dating ultrasound

2nd trimester ultrasound

Assisted reproductive technology

Obstetrical clinical estimate (includes S-F height)

Unknown

Estimated Date of Birth (EDB)

F0001 Best estimate of date of birth determined by ultrasound or mathematical calculation using Nägele's rule. Same as EDC and EDD. EDB is the preferred term.

Fetal Anomalies Confirmed

D0023 Identifies congenital anomalies that were confirmed prenatally

None No anomalies are suspected or confirmed.








August 13, 2019 of 142


























August 13, 2019 of 142















Head-Cranium & Brain \ Seizures




Head-Cranium & Brain \ Vein of Galen aneurysm

Head-Cranium & Brain \ Ventriculomegaly - mild (10-15 mm)

Head-Cranium & Brain \ Ventriculomegaly - severe (>15 mm)

Head-Cranium & Brain \ Other - malformations of the head & Brain



Face \ EARS-Ears - small (microtia)


August 13, 2019 of 142





Face \ EYES-Cyclops















Face \ NOSE-Hypoplastic nose






Neck \ Cystic hygroma

Neck \ Neck tumour - other

August 13, 2019 of 142










Thorax \ Diaphragmatic hernia - Congenital (CDH)






Thorax \ Pleural effusion(s) (hydrothorax)











August 13, 2019 of 142







Cardiovascular \ Atrioventricular septal defect (AVSD) (endocardial cushion defect)













Cardiovascular \ Congenital heart disease







August 13, 2019 of 142







Cardiovascular \ Ductus arteriosus - Patent (PDA)










Cardiovascular \ Mitral atresia






Cardiovascular \ Pericardial effusion



August 13, 2019 of 142

















Cardiovascular \ Single ventricle / univentricular connection










August 13, 2019 of 142




Cardiovascular \ Tricuspid regurgitation





Cardiovascular \ Valvular Anomalies

Cardiovascular \ Ventricular disproportion (RV>LV)




Cardiovascular \ Other heart abnormalities


Abdominal Wall \ Body stalk anomaly (limb body wall complex)







Abdominal Wall \ Other - congenital malformations of abdominal wall

Gastrointestinal \ Abnormal Esophagus

Gastrointestinal \ Abnormal Gallbladder

Gastrointestinal \ Abnormal Large Bowel

August 13, 2019 of 142




Gastrointestinal \ Abnormal Liver

Gastrointestinal \ Abnormal Small Bowel

Gastrointestinal \ Abnormal Stomach


Gastrointestinal \ Absent stomach




Gastrointestinal \ Atresia small or large intestine












Gastrointestinal \ Imperforate anus


Gastrointestinal \ Large bowel obstruction


August 13, 2019 of 142














Gastrointestinal \ Small bowel obstruction

Gastrointestinal \ Small stomach


Gastrointestinal \ Stenois small or large intestine



Genitourinary Tract \ Ambiguous genitalia / indeterminate sex

Genitourinary Tract \ Autosomal dominant polycystic kidney disease (ADPKD)

Genitourinary Tract \ Autosomal recessive polycystic kidney disease (ARPKD)

Genitourinary Tract \ Absent bladder

Genitourinary Tract \ Bladder diverticulum

Genitourinary Tract \ Bladder exstrophy

Genitourinary Tract \ Cloacal dysgenesis

August 13, 2019 of 142




Genitourinary Tract \ Cloacal exstrophy

Genitourinary Tract \ Cystic kidney(s) - other

Genitourinary Tract \ Duplex kidney/collecting system

Genitourinary Tract \ Echogenic kidney(s)

Genitourinary Tract \ Ectopic/pelvic kidney

Genitourinary Tract \ Hydrocoele

Genitourinary Tract \ Hydronephrosis (>10 mm)

Genitourinary Tract \ Hyperplastic & giant kidney(s)

Genitourinary Tract \ Hypoplastic kidney(s)

Genitourinary Tract \ Hypospadias

Genitourinary Tract \ Keyhole bladder/urethra

Genitourinary Tract \ Keyhole sign

Genitourinary Tract \ Lower urinary tract obstruction (LUTO)

Genitourinary Tract \ Megacystis

Genitourinary Tract \ Megaureter

Genitourinary Tract \ Multicystic kidney disease (MCKD)

Genitourinary Tract \ Posterior urethral valves (PUV)

Genitourinary Tract \ Prune belly

Genitourinary Tract \ Pseudohermaphroditism

Genitourinary Tract \ Renal agenesis

Genitourinary Tract \ Renal cyst

Genitourinary Tract \ Renal dysplasia

Genitourinary Tract \ Undescended testicle(s)

August 13, 2019 of 142




Genitourinary Tract \ Ureterocoele

Genitourinary Tract \ Urethral atresia

Genitourinary Tract \ Urethral obstruction malformation complex

Genitourinary Tract \ Other - malformations of female genitalia

Genitourinary Tract \ Other - malformations of male genitalia

Genitourinary Tract \ Other - malformations of urinary system

Spine - Back \ Ankylosing spondylitis

Spine - Back \ Caudal regression syndrome

Spine - Back \ NTD (neural tube defect) with hydrocephalus

Spine - Back \ NTD (neural tube defect) without hydrocephalus

Spine - Back \ Sacral agenesis

Spine - Back \ Sacrococcygeal teratoma (SCT)

Spine - Back \ Other - malformations of the spine






Extremities-skeletal \ Generalized/other-Akinesia deformation sequence - fetal (FADS)

Extremities-skeletal \ Generalized/other-Arthrogryposis multiplex congenita

Extremities-skeletal \ Generalized/other-Congenital malformations of spine & bony thorax

August 13, 2019 of 142




Extremities-skeletal \ Generalized/other-Fixed flexion deformity

Extremities-skeletal \ Generalized/other-Fracture(s) - ribs

Extremities-skeletal \ Generalized/other-Hip Dislocation - congenital

Extremities-skeletal \ Generalized/other-Hypomineralization

Extremities-skeletal \ Generalized/other-Limb reduction defect(s) (LRD) - lower limb

Extremities-skeletal \ Generalized/other-Limb reduction defect(s) (LRD) - upper limb

Extremities-skeletal \ Generalized/other-Malformation of sternum

Extremities-skeletal \ Generalized/other-Phocomelia

Extremities-skeletal \ Generalized/other-Sirenomelia

Extremities-skeletal \ Generalized/other-Skeletal dysplasia -other




Extremities-skeletal \ Hands/feet-Clinodactyly (fifth finger)



Extremities-skeletal \ Hands/feet-Fused toes

Extremities-skeletal \ Hands/feet-Overlapping fingers




August 13, 2019 of 142





Extremities-skeletal \ Hands/feet-Sandal gap toes

Extremities-skeletal \ Hands/feet-Syndactyly (feet)

Extremities-skeletal \ Hands/feet-Syndactyly (hands)

Extremities-skeletal \ Hands/feet-Webbed fingers

Extremities-skeletal \ Hands/feet-Webbed toes

Extremities-skeletal \ Micromelia

Extremities-skeletal \ Muscle/connective tissue disorders-Duchenne muscular dystrophy (DMD)

Extremities-skeletal \ Muscle/connective tissue disorders-Ehlers-Danlos syndrome

Extremities-skeletal \ Muscle/connective tissue disorders-Hypotonia

Extremities-skeletal \ Muscle/connective tissue disorders-Spinal muscular atrophy (SMA)

Extremities-skeletal \ Muscle/connective tissue disorders-Other - malformations of the musculoskeletal system

Extremities-skeletal \ Skeletal Dysplasias-Achondrogenesis

Extremities-skeletal \ Skeletal Dysplasias-Achondroplasia

Extremities-skeletal \ Skeletal Dysplasias-Campomelic dysplasia

Extremities-skeletal \ Skeletal Dysplasias-Chondrodysplasia punctata

Extremities-skeletal \ Skeletal Dysplasias-Diastrophic dysplasia

Extremities-skeletal \ Skeletal Dysplasias-Ellis-van Creveld syndrome

Extremities-skeletal \ Skeletal Dysplasias-Osteogenesis imperfecta

Extremities-skeletal \ Skeletal Dysplasias-Short rib polydactyly syndrome - type VII

Extremities-skeletal \ Skeletal Dysplasias-Thanatophoric dysplasia

August 13, 2019 of 142







Chromosomes \ 45,X (Turner syndrome)

Chromosomes \ 47,XXX

Chromosomes \ 47,XXY (Klinefelter syndrome)

Chromosomes \ 47,XYY

Chromosomes \ Array CGH abnormal or other

Chromosomes \ Balanced translocation

Chromosomes \ Deletion - other

Chromosomes \ Di George Syndrome (22 q11 deletion)

Chromosomes \ Microdeletion syndrome - other

Chromosomes \ Mosaicism

Chromosomes \ Paracentric inversion

Chromosomes \ Pericentric inversion

Chromosomes \ Triploidy /polploidy

Chromosomes \ Trisomy - other

Chromosomes \ Trisomy 13


Chromosomes \ Trisomy 21 (Down syndrome)

Chromosomes \ Trisomy 21 (Down syndrome) - mosaic

Chromosomes \ Trisomy 21 (Down syndrome) - translocation

Chromosomes \ Unbalanced translocation

August 13, 2019 of 142




Chromosomes \ Other

Congenital Infections \ CMV (cytomegalovirus) infection - congenital

Congenital Infections \ Enterovirus infections

Congenital Infections \ Herpes simplex virus (HSV) infection - congenital

Congenital Infections \ HIV

Congenital Infections \ Rubella syndrome - congenital

Congenital Infections \ Toxoplasmosis

Congenital Infections \ Tuberculosis (TB) - congenital

Congenital Infections \ Varicella-zoster virus

Congenital Infections \ Other - infections

Teratogenic Exposures \ Diabetic Embryopathy

Teratogenic Exposures \ Etretinate embryopathy

Teratogenic Exposures \ Fetal alcohol syndrome

Teratogenic Exposures \ Fetal aminopterin/methotrexate syndrome

Teratogenic Exposures \ Fetal hydantoin syndrome

Teratogenic Exposures \ Fetal valproate syndrome

Teratogenic Exposures \ Isotretinoin teratogen syndrome

Teratogenic Exposures \ Maternal Phenylketonuria

Teratogenic Exposures \ Retinoic acid embryopathy

Teratogenic Exposures \ Rhesus Disease

Teratogenic Exposures \ Thalidomide embryopathy

Teratogenic Exposures \ Toluene embryopathy

August 13, 2019 of 142




Teratogenic Exposures \ Vitamin A teratogenicity

Teratogenic Exposures \ Warfarin dysmorphism

Teratogenic Exposures \ Other -teratogenic embryopathy

Teratogenic Exposures \ Other-antiepileptic embryopathy











Syndromes \ Aarskogs Syndrome

Syndromes \ Achondrogenesis

Syndromes \ Achondroplasia

Syndromes \ Acroesomelic Dysplasia

Syndromes \ Acrofacial Dysostosis

Syndromes \ Adrenal Hyperplasia

Syndromes \ Alpha-1-Antitrypsin

Syndromes \ Alports Syndrome

Syndromes \ Amyloplasia Congenita

Syndromes \ Angelmans Syndrome

August 13, 2019 of 142




Syndromes \ Anophthalmia

Syndromes \ Aqueductal stenosis - X linked (L1 syndrome)

Syndromes \ Arthrogryposis Multiplex Congenitia

Syndromes \ Ataxia-telangiectasis

Syndromes \ Autosomal dominant polycystic kidney disease

Syndromes \ Autosomal Recessive Polycystic Kidney Disease

Syndromes \ Beckwith-Wiedemann

Syndromes \ Biotinidase deficiency (BIOT)

Syndromes \ CADASIL

Syndromes \ Congenital Adrenal Hyperplasia (CAH)

Syndromes \ Camptomelic dysplaia

Syndromes \ Carnitine uptake defect (CUD)

Syndromes \ Caudal regression syndrome

Syndromes \ Cerebral Palsy

Syndromes \ Charcot-Marie-Tooth

Syndromes \ CHARGE association

Syndromes \ Chronrodysplasia Punctata

Syndromes \ Cleidocranial Dysplasia

Syndromes \ Coffin-Lowry syndrome

Syndromes \ Congenital hypothyroidism (HYPOTH)

Syndromes \ Congenital Myotonic Dystrophy

Syndromes \ Congenital Nephrotic Syndrome

Syndromes \ Cornelia Delange

August 13, 2019 of 142




Syndromes \ CPS (Carbamyl Phosphate Deficiency)

Syndromes \ Craniosynotsis Saethre-Crouzon

Syndromes \ Cri-du-Chat Syndrome

Syndromes \ Crouzon's syndrome

Syndromes \ Cryptophthalmus

Syndromes \ Cystic Fibrosis

Syndromes \ Dandy-walker syndrome

Syndromes \ Dextrocardia

Syndromes \ Diastrophic dysplasia

Syndromes \ Digeorge Syndrome

Syndromes \ Dysautonomia - familial

Syndromes \ Ectodermal Dysplasia

Syndromes \ Ehlers-Danlos syndrome

Syndromes \ Ellis Van Creveld Syndrome

Syndromes \ Epidermolysis Bullosa

Syndromes \ F-HYPDRR Familial hypophosphatemia

Syndromes \ Fabry's Disease

Syndromes \ Factor V

Syndromes \ Fanconi Anemia

Syndromes \ Fragile X Syndrome

Syndromes \ Fraser Syndrome - cryptophthalmos syndrome

Syndromes \ Freeman-Sheldon Syndrome

Syndromes \ Friederichs Ataxia

Syndromes \ Frontonasal dysplasia

August 13, 2019 of 142




Syndromes \ FSHD (Fascioscapulohumeral Muscular Dystrophy)

Syndromes \ Galactosemia (GALT)

Syndromes \ Gaucher

Syndromes \ Gilbert's disease

Syndromes \ Glucose-6-phosphate dehydrogenase (G6PD)

Syndromes \ Glutaric acidemia type I (GA I)

Syndromes \ Goldenhar Syndrome

Syndromes \ Gorlin Syndrome

Syndromes \ GSD (Glycogen Storage Disease)

Syndromes \ Hard +/- e syndrome

Syndromes \ Harlequin Icthyosis

Syndromes \ Hemi-hypertrophy

Syndromes \ Hemophilia A/ B

Syndromes \ Hereditary nephritis

Syndromes \ Hereditary Hemorrhagic Telangiectasia (HHT)

Syndromes \ Hereditary Multiple Exostoses (HME)

Syndromes \ Holt-Oram

Syndromes \ Homocystinosis

Syndromes \ Homocystinuria (HCY)

Syndromes \ Hunter Syndrome

Syndromes \ Hurlers Syndrome

Syndromes \ Hydrochephalus X-Linked

Syndromes \ Hydrolethalus

August 13, 2019 of 142




Syndromes \ Hypochondroplasia

Syndromes \ Hypoglycemia

Syndromes \ Hypophosphatasia

Syndromes \ Ichthyosis (non X-linked)

Syndromes \ Ichthyosis X-linked (STS deficiency)

Syndromes \ Idiopathic hypoparathyroidism

Syndromes \ Incontinentia Pigmenti

Syndromes \ Isovaleric academia (IVA)

Syndromes \ Ivemark Syndrome

Syndromes \ Jourbert Syndrome

Syndromes \ Klippel-Trenaunay Syndrome

Syndromes \ Krabbe

Syndromes \ Larsen Syndrome

Syndromes \ LCHAD

Syndromes \ Leigh's Syndrome

Syndromes \ Lesch Nyhan

Syndromes \ Limb-Girdle Muscular Dystrophy

Syndromes \ Long Q-T Syndrome

Syndromes \ Lysosmal Storage Disease (IEM)

Syndromes \ Machado-Joseph Disease

Syndromes \ Maple syrup urine disease (MSUD)

Syndromes \ Marfan syndrome

Syndromes \ McKusick-Koffman Syndrome

Syndromes \ Meckel-Gruber syndrome

August 13, 2019 of 142




Syndromes \ Medium chain acyl-CoA dehydrogenase deficiency (MCAD)

Syndromes \ MELAS

Syndromes \ Menkes

Syndromes \ MERFF

Syndromes \ Metachromatic Leukodystrophy

Syndromes \ Methylenetetrahydrofolate Reductase Deficiency

Syndromes \ Methylmalonic Acidemia

Syndromes \ Methylmalonic acidemia (Cbl A and B)

Syndromes \ Methylmalonic acidemia (mutase deficiency) (MUT)

Syndromes \ Miller-Dieker Syndrome

Syndromes \ Morquio Syndrome

Syndromes \ MPS (Mucopolysaccharidosis)

Syndromes \ Multiple carboxylase deficiency (MCD)

Syndromes \ Multiple Congenital Anomalies (Unknown Origin)

Syndromes \ Multiple pterygium syndrome

Syndromes \ Myotonic Dystrophy

Syndromes \ Nail-Patella Syndrome

Syndromes \ Neurofibromatosis 1


Syndromes \ Nieman-Pick

Syndromes \ Noonan Syndrome

Syndromes \ OculodentiodiGastrointestinalal Syndrome

Syndromes \ Opitz Syndrome

August 13, 2019 of 142




Syndromes \ Oromandibular Limb Hypogenesis

Syndromes \ Osteogenesis Imperfecta

Syndromes \ OTC Deficiency

Syndromes \ Otosclerosis

Syndromes \ Pallister-Hall Syndrome

Syndromes \ Pelizaeus-merzbacher-like disease

Syndromes \ Peters' anomaly (brachymesomelia)

Syndromes \ Peutz-Jeghers Syndrome

Syndromes \ Pfeiffer Syndrome

Syndromes \ Pick's Disease

Syndromes \ Pierre Robin

Syndromes \ PKU

Syndromes \ Poland Sequence Syndrome

Syndromes \ Pompe's disease

Syndromes \ Porphyria

Syndromes \ Potter's Syndrome

Syndromes \ Prader Willi

Syndromes \ Progeria

Syndromes \ Progressive Spinobulbar muscular atrophy

Syndromes \ Propionic acidemia (PROP)

Syndromes \ Protein C deficiency

Syndromes \ Proteus Syndrome

Syndromes \ Prune belly syndrome

Syndromes \ Pyruvate Carboxylase Deficiency

August 13, 2019 of 142




Syndromes \ Pyruvate Dehydrogenase Deficiency

Syndromes \ Renal Adysplasia

Syndromes \ Restrictive Dermopathy

Syndromes \ Retinis Pigmentosa

Syndromes \ Retinoblastoma

Syndromes \ Rubenstein-Taybi Syndrome

Syndromes \ Russell-Silver Syndrome

Syndromes \ Short rib polydactyly syndrome - type VII

Syndromes \ Short-rib-Polydactyly Syndrome

Syndromes \ Sialidosis

Syndromes \ Sickle Cell Anemia

Syndromes \ Situs Ambiguous

Syndromes \ Sjogren syndrome

Syndromes \ Smith-Lemli-Opitz

Syndromes \ Smith-Magenis Syndrome

Syndromes \ Sotos Syndrome

Syndromes \ Spinal Muscular Atrophy

Syndromes \ Stickler Syndrome

Syndromes \ Sturge-Weber Syndrome

Syndromes \ Syndrome not otherwise specified

Syndromes \ TAR (thrombocytopenia-absent radius) syndrome

Syndromes \ Tay-Sachs - gm2-gangliosidosis type 1

Syndromes \ Thalassemia-alpha

August 13, 2019 of 142




Syndromes \ Thalassemia-beta

Syndromes \ Thanantrophic dysplasis

Syndromes \ Treacher Collins syndrome

Syndromes \ Tuberous Sclerosis

Syndromes \ Tumours (Sacrococcygeal Teratoma - Paragangliomata)

Syndromes \ Tyrosinemia type I (TYR I)

Syndromes \ VATER syndrome

Syndromes \ Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Syndromes \ Von Willibrand Disease

Syndromes \ Waardenberg Syndrome

Syndromes \ Walker-Warburg Syndrome

Syndromes \ Williams syndrome (idiopathic hypercalcaemia)

Syndromes \ Wilson Disease

Syndromes \ Wolf-hirschhorn syndrome

Syndromes \ Xeroderma Pigmentosum

Syndromes \ Zellweger (cerebro-hepato-renal) syndrome

Unknown More information is needed and/or there is no documentation to indicate whether or not any congenital anomalies are suspected or confirmed.

Fetal Anomalies Identified

D0022-1 Indication whether there were suspected or confirmed fetal anomalies

None

Suspected or Confirmed

Fetal Anomalies Suspected

D0022 Identifies congenital anomalies that were suspected prenatally

None No anomalies are suspected or confirmed.



August 13, 2019 of 142


























August 13, 2019 of 142




















Head-Cranium & Brain \ Seizures




Head-Cranium & Brain \ Vein of Galen aneurysm

Head-Cranium & Brain \ Ventriculomegaly - mild (10-15 mm)

Head-Cranium & Brain \ Ventriculomegaly - severe (>15 mm)

August 13, 2019 of 142




Head-Cranium & Brain \ Other - malformations of the head & Brain



Face \ EARS-Ears - small (microtia)



Face \ EYES-Cyclops















Face \ NOSE-Hypoplastic nose



August 13, 2019 of 142







Neck \ Cystic hygroma

Neck \ Neck tumour - other







Thorax \ Diaphragmatic hernia - Congenital (CDH)






Thorax \ Pleural effusion(s) (hydrothorax)






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Cardiovascular \ Atrioventricular septal defect (AVSD) (endocardial cushion defect)













Cardiovascular \ Congenital heart disease


August 13, 2019 of 142












Cardiovascular \ Ductus arteriosus - Patent (PDA)










Cardiovascular \ Mitral atresia





August 13, 2019 of 142





Cardiovascular \ Pericardial effusion
















Cardiovascular \ Single ventricle / univentricular connection






August 13, 2019 of 142








Cardiovascular \ Tricuspid regurgitation





Cardiovascular \ Valvular Anomalies

Cardiovascular \ Ventricular disproportion (RV>LV)




Cardiovascular \ Other heart abnormalities


Abdominal Wall \ Body stalk anomaly (limb body wall complex)







August 13, 2019 of 142




Abdominal Wall \ Other - congenital malformations of abdominal wall

Gastrointestinal \ Abnormal Esophagus

Gastrointestinal \ Abnormal Gallbladder

Gastrointestinal \ Abnormal Large Bowel

Gastrointestinal \ Abnormal Liver

Gastrointestinal \ Abnormal Small Bowel

Gastrointestinal \ Abnormal Stomach


Gastrointestinal \ Absent stomach




Gastrointestinal \ Atresia small or large intestine












August 13, 2019 of 142




Gastrointestinal \ Imperforate anus


Gastrointestinal \ Large bowel obstruction












Gastrointestinal \ Small bowel obstruction

Gastrointestinal \ Small stomach


Gastrointestinal \ Stenois small or large intestine



Genitourinary Tract \ Ambiguous genitalia / indeterminate sex

Genitourinary Tract \ Autosomal dominant polycystic kidney disease (ADPKD)

Genitourinary Tract \ Autosomal recessive polycystic kidney disease (ARPKD)

August 13, 2019 of 142




Genitourinary Tract \ Absent bladder

Genitourinary Tract \ Bladder diverticulum

Genitourinary Tract \ Bladder exstrophy

Genitourinary Tract \ Cloacal dysgenesis

Genitourinary Tract \ Cloacal exstrophy

Genitourinary Tract \ Cystic kidney(s) - other

Genitourinary Tract \ Duplex kidney/collecting system

Genitourinary Tract \ Echogenic kidney(s)

Genitourinary Tract \ Ectopic/pelvic kidney

Genitourinary Tract \ Hydrocoele

Genitourinary Tract \ Hydronephrosis (>10 mm)

Genitourinary Tract \ Hyperplastic & giant kidney(s)

Genitourinary Tract \ Hypoplastic kidney(s)

Genitourinary Tract \ Hypospadias

Genitourinary Tract \ Keyhole bladder/urethra

Genitourinary Tract \ Keyhole sign

Genitourinary Tract \ Lower urinary tract obstruction (LUTO)

Genitourinary Tract \ Megacystis

Genitourinary Tract \ Megaureter

Genitourinary Tract \ Multicystic kidney disease (MCKD)

Genitourinary Tract \ Posterior urethral valves (PUV)

Genitourinary Tract \ Prune belly

Genitourinary Tract \ Pseudohermaphroditism

August 13, 2019 of 142




Genitourinary Tract \ Renal agenesis

Genitourinary Tract \ Renal cyst

Genitourinary Tract \ Renal dysplasia

Genitourinary Tract \ Undescended testicle(s)

Genitourinary Tract \ Ureterocoele

Genitourinary Tract \ Urethral atresia

Genitourinary Tract \ Urethral obstruction malformation complex

Genitourinary Tract \ Other - malformations of female genitalia

Genitourinary Tract \ Other - malformations of male genitalia

Genitourinary Tract \ Other - malformations of urinary system

Spine - Back \ Ankylosing spondylitis

Spine - Back \ Caudal regression syndrome

Spine - Back \ NTD (neural tube defect) with hydrocephalus

Spine - Back \ NTD (neural tube defect) without hydrocephalus

Spine - Back \ Sacral agenesis

Spine - Back \ Sacrococcygeal teratoma (SCT)

Spine - Back \ Other - malformations of the spine






August 13, 2019 of 142




Extremities-skeletal \ Generalized/other-Akinesia deformation sequence - fetal (FADS)

Extremities-skeletal \ Generalized/other-Arthrogryposis multiplex congenita

Extremities-skeletal \ Generalized/other-Congenital malformations of spine & bony thorax

Extremities-skeletal \ Generalized/other-Fixed flexion deformity

Extremities-skeletal \ Generalized/other-Fracture(s) - ribs

Extremities-skeletal \ Generalized/other-Hip Dislocation - congenital

Extremities-skeletal \ Generalized/other-Hypomineralization

Extremities-skeletal \ Generalized/other-Limb reduction defect(s) (LRD) - lower limb

Extremities-skeletal \ Generalized/other-Limb reduction defect(s) (LRD) - upper limb

Extremities-skeletal \ Generalized/other-Malformation of sternum

Extremities-skeletal \ Generalized/other-Phocomelia

Extremities-skeletal \ Generalized/other-Sirenomelia

Extremities-skeletal \ Generalized/other-Skeletal dysplasia -other




Extremities-skeletal \ Hands/feet-Clinodactyly (fifth finger)



Extremities-skeletal \ Hands/feet-Fused toes

Extremities-skeletal \ Hands/feet-Overlapping fingers

August 13, 2019 of 142








Extremities-skeletal \ Hands/feet-Sandal gap toes

Extremities-skeletal \ Hands/feet-Syndactyly (feet)

Extremities-skeletal \ Hands/feet-Syndactyly (hands)

Extremities-skeletal \ Hands/feet-Webbed fingers

Extremities-skeletal \ Hands/feet-Webbed toes

Extremities-skeletal \ Micromelia

Extremities-skeletal \ Muscle/connective tissue disorders-Duchenne muscular dystrophy (DMD)

Extremities-skeletal \ Muscle/connective tissue disorders-Ehlers-Danlos syndrome

Extremities-skeletal \ Muscle/connective tissue disorders-Hypotonia

Extremities-skeletal \ Muscle/connective tissue disorders-Spinal muscular atrophy (SMA)

Extremities-skeletal \ Muscle/connective tissue disorders-Other - malformations of the musculoskeletal system

Extremities-skeletal \ Skeletal Dysplasias-Achondrogenesis

Extremities-skeletal \ Skeletal Dysplasias-Achondroplasia

Extremities-skeletal \ Skeletal Dysplasias-Campomelic dysplasia

Extremities-skeletal \ Skeletal Dysplasias-Chondrodysplasia punctata

Extremities-skeletal \ Skeletal Dysplasias-Diastrophic dysplasia

Extremities-skeletal \ Skeletal Dysplasias-Ellis-van Creveld syndrome

August 13, 2019 of 142




Extremities-skeletal \ Skeletal Dysplasias-Osteogenesis imperfecta

Extremities-skeletal \ Skeletal Dysplasias-Short rib polydactyly syndrome - type VII

Extremities-skeletal \ Skeletal Dysplasias-Thanatophoric dysplasia




Chromosomes \ 45,X (Turner syndrome)

Chromosomes \ 47,XXX

Chromosomes \ 47,XXY (Klinefelter syndrome)

Chromosomes \ 47,XYY

Chromosomes \ Array CGH abnormal or other

Chromosomes \ Balanced translocation

Chromosomes \ Deletion - other

Chromosomes \ Di George Syndrome (22 q11 deletion)

Chromosomes \ Microdeletion syndrome - other

Chromosomes \ Mosaicism

Chromosomes \ Paracentric inversion

Chromosomes \ Pericentric inversion

Chromosomes \ Triploidy /polploidy

Chromosomes \ Trisomy - other



Chromosomes \ Trisomy 21 (Down syndrome)

August 13, 2019 of 142




Chromosomes \ Trisomy 21 (Down syndrome) - mosaic

Chromosomes \ Trisomy 21 (Down syndrome) - translocation

Chromosomes \ Unbalanced translocation

Chromosomes \ Other

Congenital Infections \ CMV (cytomegalovirus) infection - congenital

Congenital Infections \ Enterovirus infections

Congenital Infections \ Herpes simplex virus (HSV) infection - congenital

Congenital Infections \ HIV

Congenital Infections \ Rubella syndrome - congenital

Congenital Infections \ Toxoplasmosis

Congenital Infections \ Tuberculosis (TB) - congenital

Congenital Infections \ Varicella-zoster virus

Congenital Infections \ Other - infections

Teratogenic Exposures \ Diabetic Embryopathy

Teratogenic Exposures \ Etretinate embryopathy

Teratogenic Exposures \ Fetal alcohol syndrome

Teratogenic Exposures \ Fetal aminopterin/methotrexate syndrome

Teratogenic Exposures \ Fetal hydantoin syndrome

Teratogenic Exposures \ Fetal valproate syndrome

Teratogenic Exposures \ Isotretinoin teratogen syndrome

Teratogenic Exposures \ Maternal Phenylketonuria

Teratogenic Exposures \ Retinoic acid embryopathy

August 13, 2019 of 142




Teratogenic Exposures \ Rhesus Disease

Teratogenic Exposures \ Thalidomide embryopathy

Teratogenic Exposures \ Toluene embryopathy

Teratogenic Exposures \ Vitamin A teratogenicity

Teratogenic Exposures \ Warfarin dysmorphism

Teratogenic Exposures \ Other -teratogenic embryopathy

Teratogenic Exposures \ Other-antiepileptic embryopathy











Syndromes \ Aarskogs Syndrome

Syndromes \ Achondrogenesis

Syndromes \ Achondroplasia

Syndromes \ Acroesomelic Dysplasia

Syndromes \ Acrofacial Dysostosis

Syndromes \ Adrenal Hyperplasia

August 13, 2019 of 142




Syndromes \ Alpha-1-Antitrypsin

Syndromes \ Alports Syndrome

Syndromes \ Amyloplasia Congenita

Syndromes \ Angelmans Syndrome

Syndromes \ Anophthalmia

Syndromes \ Aqueductal stenosis - X linked (L1 syndrome)

Syndromes \ Arthrogryposis Multiplex Congenitia

Syndromes \ Ataxia-telangiectasis

Syndromes \ Autosomal dominant polycystic kidney disease

Syndromes \ Autosomal Recessive Polycystic Kidney Disease

Syndromes \ Beckwith-Wiedemann

Syndromes \ Biotinidase deficiency (BIOT)

Syndromes \ CADASIL

Syndromes \ Congenital Adrenal Hyperplasia (CAH)

Syndromes \ Camptomelic dysplaia

Syndromes \ Carnitine uptake defect (CUD)

Syndromes \ Caudal regression syndrome

Syndromes \ Cerebral Palsy

Syndromes \ Charcot-Marie-Tooth

Syndromes \ CHARGE association

Syndromes \ Chronrodysplasia Punctata

Syndromes \ Cleidocranial Dysplasia

Syndromes \ Coffin-Lowry syndrome

August 13, 2019 of 142




Syndromes \ Congenital hypothyroidism (HYPOTH)

Syndromes \ Congenital Myotonic Dystrophy

Syndromes \ Congenital Nephrotic Syndrome

Syndromes \ Cornelia Delange

Syndromes \ CPS (Carbamyl Phosphate Deficiency)

Syndromes \ Craniosynotsis Saethre-Crouzon

Syndromes \ Cri-du-Chat Syndrome

Syndromes \ Crouzon's syndrome

Syndromes \ Cryptophthalmus

Syndromes \ Cystic Fibrosis

Syndromes \ Dandy-walker syndrome

Syndromes \ Dextrocardia

Syndromes \ Diastrophic dysplasia

Syndromes \ Digeorge Syndrome

Syndromes \ Dysautonomia - familial

Syndromes \ Ectodermal Dysplasia

Syndromes \ Ehlers-Danlos syndrome

Syndromes \ Ellis Van Creveld Syndrome

Syndromes \ Epidermolysis Bullosa

Syndromes \ F-HYPDRR Familial hypophosphatemia

Syndromes \ Fabry's Disease

Syndromes \ Factor V

Syndromes \ Fanconi Anemia

Syndromes \ Fragile X Syndrome

August 13, 2019 of 142




Syndromes \ Fraser Syndrome - cryptophthalmos syndrome

Syndromes \ Freeman-Sheldon Syndrome

Syndromes \ Friederichs Ataxia

Syndromes \ Frontonasal dysplasia

Syndromes \ FSHD (Fascioscapulohumeral Muscular Dystrophy)

Syndromes \ Galactosemia (GALT)

Syndromes \ Gaucher

Syndromes \ Gilbert's disease

Syndromes \ Glucose-6-phosphate dehydrogenase (G6PD)

Syndromes \ Glutaric acidemia type I (GA I)

Syndromes \ Goldenhar Syndrome

Syndromes \ Gorlin Syndrome

Syndromes \ GSD (Glycogen Storage Disease)

Syndromes \ Hard +/- e syndrome

Syndromes \ Harlequin Icthyosis

Syndromes \ Hemi-hypertrophy

Syndromes \ Hemophilia A/ B

Syndromes \ Hereditary nephritis

Syndromes \ Hereditary Hemorrhagic Telangiectasia (HHT)

Syndromes \ Hereditary Multiple Exostoses (HME)

Syndromes \ Holt-Oram

Syndromes \ Homocystinosis

Syndromes \ Homocystinuria (HCY)

August 13, 2019 of 142




Syndromes \ Hunter Syndrome

Syndromes \ Hurlers Syndrome

Syndromes \ Hydrochephalus X-Linked

Syndromes \ Hydrolethalus

Syndromes \ Hypochondroplasia

Syndromes \ Hypoglycemia

Syndromes \ Hypophosphatasia

Syndromes \ Ichthyosis (non X-linked)

Syndromes \ Ichthyosis X-linked (STS deficiency)

Syndromes \ Idiopathic hypoparathyroidism

Syndromes \ Incontinentia Pigmenti

Syndromes \ Isovaleric academia (IVA)

Syndromes \ Ivemark Syndrome

Syndromes \ Jourbert Syndrome

Syndromes \ Klippel-Trenaunay Syndrome

Syndromes \ Krabbe

Syndromes \ Larsen Syndrome

Syndromes \ LCHAD

Syndromes \ Leigh's Syndrome

Syndromes \ Lesch Nyhan

Syndromes \ Limb-Girdle Muscular Dystrophy

Syndromes \ Long Q-T Syndrome

Syndromes \ Lysosmal Storage Disease (IEM)

Syndromes \ Machado-Joseph Disease

August 13, 2019 of 142




Syndromes \ Maple syrup urine disease (MSUD)

Syndromes \ Marfan syndrome

Syndromes \ McKusick-Koffman Syndrome

Syndromes \ Meckel-Gruber syndrome

Syndromes \ Medium chain acyl-CoA dehydrogenase deficiency (MCAD)

Syndromes \ MELAS

Syndromes \ Menkes

Syndromes \ MERFF

Syndromes \ Metachromatic Leukodystrophy

Syndromes \ Methylenetetrahydrofolate Reductase Deficiency

Syndromes \ Methylmalonic Acidemia

Syndromes \ Methylmalonic acidemia (Cbl A and B)

Syndromes \ Methylmalonic acidemia (mutase deficiency) (MUT)

Syndromes \ Miller-Dieker Syndrome

Syndromes \ Morquio Syndrome

Syndromes \ MPS (Mucopolysaccharidosis)

Syndromes \ Multiple carboxylase deficiency (MCD)

Syndromes \ Multiple Congenital Anomalies (Unknown Origin)

Syndromes \ Multiple pterygium syndrome

Syndromes \ Myotonic Dystrophy

Syndromes \ Nail-Patella Syndrome



August 13, 2019 of 142




Syndromes \ Nieman-Pick

Syndromes \ Noonan Syndrome

Syndromes \ OculodentiodiGastrointestinalal Syndrome

Syndromes \ Opitz Syndrome

Syndromes \ Oromandibular Limb Hypogenesis

Syndromes \ Osteogenesis Imperfecta

Syndromes \ OTC Deficiency

Syndromes \ Otosclerosis

Syndromes \ Pallister-Hall Syndrome

Syndromes \ Pelizaeus-merzbacher-like disease

Syndromes \ Peters' anomaly (brachymesomelia)

Syndromes \ Peutz-Jeghers Syndrome

Syndromes \ Pfeiffer Syndrome

Syndromes \ Pick's Disease

Syndromes \ Pierre Robin

Syndromes \ PKU

Syndromes \ Poland Sequence Syndrome

Syndromes \ Pompe's disease

Syndromes \ Porphyria

Syndromes \ Potter's Syndrome

Syndromes \ Prader Willi

Syndromes \ Progeria

Syndromes \ Progressive Spinobulbar muscular atrophy

August 13, 2019 of 142




Syndromes \ Propionic acidemia (PROP)

Syndromes \ Protein C deficiency

Syndromes \ Proteus Syndrome

Syndromes \ Prune belly syndrome

Syndromes \ Pyruvate Carboxylase Deficiency

Syndromes \ Pyruvate Dehydrogenase Deficiency

Syndromes \ Renal Adysplasia

Syndromes \ Restrictive Dermopathy

Syndromes \ Retinis Pigmentosa

Syndromes \ Retinoblastoma

Syndromes \ Rubenstein-Taybi Syndrome

Syndromes \ Russell-Silver Syndrome

Syndromes \ Short rib polydactyly syndrome - type VII

Syndromes \ Short-rib-Polydactyly Syndrome

Syndromes \ Sialidosis

Syndromes \ Sickle Cell Anemia

Syndromes \ Situs Ambiguous

Syndromes \ Sjogren syndrome

Syndromes \ Smith-Lemli-Opitz

Syndromes \ Smith-Magenis Syndrome

Syndromes \ Sotos Syndrome

Syndromes \ Spinal Muscular Atrophy

Syndromes \ Stickler Syndrome

Syndromes \ Sturge-Weber Syndrome

August 13, 2019 of 142




Syndromes \ Syndrome not otherwise specified

Syndromes \ TAR (thrombocytopenia-absent radius) syndrome

Syndromes \ Tay-Sachs - gm2-gangliosidosis type 1

Syndromes \ Thalassemia-alpha

Syndromes \ Thalassemia-beta

Syndromes \ Thanantrophic dysplasis

Syndromes \ Treacher Collins syndrome

Syndromes \ Tuberous Sclerosis

Syndromes \ Tumours (Sacrococcygeal Teratoma - Paragangliomata)

Syndromes \ Tyrosinemia type I (TYR I)

Syndromes \ VATER syndrome

Syndromes \ Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Syndromes \ Von Willibrand Disease

Syndromes \ Waardenberg Syndrome

Syndromes \ Walker-Warburg Syndrome

Syndromes \ Williams syndrome (idiopathic hypercalcaemia)

Syndromes \ Wilson Disease

Syndromes \ Wolf-hirschhorn syndrome

Syndromes \ Xeroderma Pigmentosum

Syndromes \ Zellweger (cerebro-hepato-renal) syndrome

Unknown More information is needed and/or there is no documentation to indicate whether or not any congenital anomalies are suspected or confirmed.

August 13, 2019 of 142


Fetal Therapy FAN0013 Fetal procedures or surgical interventions that were performed on the fetus during this pregnancy, including endoscopic surgical approaches and pharmacological therapy

None

Amnioinfusion

Amnioreduction

Fetal Drug Therapy

Fetal Surgery

Intrauterine Transfusion \ Packed Red Blood Cells

Intrauterine Transfusion \ Platelets

Laser ablation of placenta

Lower Urinary Tract Obstruction (LUTO) \ Bladder tap

Lower Urinary Tract Obstruction (LUTO) \ Shunt

Maternal Transplacental Drug Therapy

Pleural effusion \ Aspiration

Pleural effusion \ Shunt

Radio frequency ablation

Selective Reduction \ Discordant for anomaly

Selective Reduction \ Higher order multiples

Selective Reduction \ other

Other

Unknown

Fetus ID PS0011 Fetal ID of a multiple pregnancy Fetus A

Fetus B

Fetus C

August 13, 2019 of 142


Fetus ID PS0011 Fetal ID of a multiple pregnancy Fetus D

Fetus E

Fetus F

Fetus G

Fetus H

Fetus I

Fetus J

Final Diagnosis Confirmed By

FAN0031 How Fetal or Neonatal Congenital Anomalies were diagnosed

Autopsy

DNA testing

Physical examination

Chromosome analysis

Chromosome analysis – blood

Chromosome analysis – products of conception

Chromosome analysis – biopsy

Chromosome analysis - autopsy

Chromosome analysis - unknown

TORCH

Diagnostic imaging (Xray, CT, MRI)

Biopsy

Not confirmed

Antenatal U/S Only

CGH micro array

QF-PCR (prenatal)

August 13, 2019 of 142


Final Diagnosis Confirmed By

FAN0031 How Fetal or Neonatal Congenital Anomalies were diagnosed

Other

First Trimester Visit M0046 Indication that mother had a prenatal care visit with a regulated health care provider during the first trimester (<13 weeks and 0 days gestation of pregnancy) of the current pregnancy.

Folic Acid D0020 Maternal use of folic acid prior to and during pregnancy None

Pre-conception only

During pregnancy only

Preconception and during pregnancy

Unknown

GA at First Abnormal U/S FAN0025 Gestational Age at first ultrasound yielding abnormal results in standard GA format.

GA at First Tertiary U/S FAN0026 Gestational Age at first ultrasound done at a high-risk centre in standard GA format.

GA at first visit to FMU FAN0027 GA at first visit with Fetal Medicine Unit in current pregnancy using GA format. Stored in days

GA at first visit to PNU/MG

FAN0030

Generic Comment D0021 Hospital specific comment

Genetic testing molecular result detail

ASGENTSTD Genetic testing molecular result detail c.1274_1277dupTATC or c.1278insTATC

c.1421+1G>C or IVS12(+1)G>C

c.805G>A (or G269S)

c.433-2A>G

c.693C>A (or Y231X)

c.854A>C (or E285A)

c.914C>A (or A305E)

c.2881del6/ins7 or (Y736)

August 13, 2019 of 142



ASGENTSTD Genetic testing molecular result detail c.2204+6T>C (or R696P)

IVS20(+6)T>C

c.67delG+c.37C>T or c.322delG

IVS3(-2)A>G (or G116_N152del)

c.511_6943del (or 6.4kb deletion)

c.406-2A>G or IVS3(-2)A>G

c.911T>C (or L302P)

c.996delC (or 1bp delfsP330)

c.1493G>T (or R496L)

c.1828_1830del (or delta R608)

c.1521_1523delCTT (or dF508)

45-54

55-59

60-69

70-79

80-89

90-99

100-109

110-119

120-129

130-139

140-200

50-149

150-1000

August 13, 2019 of 142



ASGENTSTD Genetic testing molecular result detail >2000

Other

Other, specify

Unknown

Gestational Age At Scan F0016SC

Gravida (G) M0030 Indicates number of pregnancies the women has experienced, including current pregnancy

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

17

18

August 13, 2019 of 142


Gravida (G) M0030 Indicates number of pregnancies the women has experienced, including current pregnancy

19

20

21

22

23

24

25

Unknown

HOSP Name ORGHOSP001 Hospital Site Name

Hypertension Disorder in Pregnancy

D0016 Identification of all hypertensive conditions and the progression of hypertensive conditions the women experienced during this pregnancy

None

Eclampsia

Gestational Hypertension

HELLP

Preeclampsia

Preeclampsia requiring magnesium sulfate

Pre-existing Hypertension with superimposed preeclampsia

Unknown

Infection and Pregnancy D0017 Identification of infections affecting this pregnancy. Select all that apply.

None

Bacterial Infection

C-Difficile

Chlamydia

CMV (cytomegalovirus) infection

August 13, 2019 of 142


Infection and Pregnancy D0017 Identification of infections affecting this pregnancy. Select all that apply.

Enterovirus infections

Gonorrhea

Group B Streptococcus GBS infection is selected when there is an infection present in pregnancy and culture indicates GBS. The culture can come from blood, urine or swab.

Hepatitis A

Hepatitis B

Hepatitis C

Herpes simplex virus (HSV) infection

HIV

HPV

Methicillin-Resistant Staphylococcus Aureus (MRSA)

Other Infections

Rubella syndrome

Seasonal Influenza

Suspected Chorioamnionitis

Syphillis

Toxoplasmosis

Trichomonas

Tuberculosis (TB)

Urinary Tract Infection (UTI)

Varicella-Zoster virus

Viruses - Other

Unknown

Maternal Ancestry M0012 Mother's ethnic background to identify the patient as a member of a specific ethnic group to assess genetic risks.

East Asian

August 13, 2019 of 142


Maternal Ancestry M0012 Mother's ethnic background to identify the patient as a member of a specific ethnic group to assess genetic risks.

Asian Description: Indian, Pakistani, Bangladeshi

Black Description: African, Caribbean, African-American

Caucasian Description: European, Middle Eastern, North African, Hispanic

Other

Unknown

Maternal Antenatal HCP M0106 Designation of health care providers (HCP) that provided antenatal care.

None

Obstetrician

Family Physician

Midwife Registered midwife or traditionally trained Aboriginal midwife

Nurse

Nurse Practitioner (APN/CNS)

Other

Unknown

Maternal BMI M0019 Maternal pre-pregnancy Body Mass Index (BMI) defined as weight in kilograms divided by the square of the height in metres (kg/m2).

Maternal Canadian Postal Code at Conception

M0006 The postal code of mother's usual or permanent address closest to the time of conception.

Maternal Education Level M0011 Mothers highest level of education completed at time of birth.Create Father Education level field

Grade School Completed

High School not Completed

High School Completed

College/University not Completed

College/University Completed

August 13, 2019 of 142


Maternal Education Level M0011 Mothers highest level of education completed at time of birth.Create Father Education level field

Unknown

Maternal Family History NEW0012 Family health history of birth mother at time of data collection. If egg donor then document in Source of Gametes on Pregnancy tab.

None

Autism

Chromosome Abnormality

Chromosome Rearrangement

Congenital hearing loss

Congenital Heart Defect

Congenital visual impairment

Connective Tissue Disorders

Craniofacial Anomalies

Cystic Fibrosis

Developmental Delay (Mental Retardation)

Fragile X

Hemoglobinopathy

Hemophilia/bleeding Disorders

Learning Disabilities

Limb reduction defects

Metabolic Disorder

Neuromuscular Disorders

Skeletal Dysplasia

Spina Bifida/Neural Tube Defects

Tay Sachs

August 13, 2019 of 142


Maternal Family History NEW0012 Family health history of birth mother at time of data collection. If egg donor then document in Source of Gametes on Pregnancy tab.

Other

Unknown

Maternal Health Condition Other

M0013-2 Please specify maternal health condition and/or complications that could impact maternal, pregnancy or birth outcomes

Maternal Health Conditions

M0013 Select all maternal health conditions and/or complications including those pre-exisitng, diagnosed during pregnancy or active during pregnancy.

None Select None if not on available pick list.

Autoimmune \ Lupus

Autoimmune \ Other

Autoimmune \ Rheumatoid Arthritis

Cancer \ Diagnosed in Pregnancy

Cancer \ Prior to Pregnancy

Cardiovascular \ Acquired Heart Disease

Cardiovascular \ Antihypertensive Therapy outside of pregnancy

Cardiovascular \ Cardiovascular Disease

Cardiovascular \ Congenital Heart Defect

Cardiovascular \ Congenital Heart Disease

Cardiovascular \ Other

Cardiovascular \ Pre-existing Hypertension

Cardiovascular \ Renal Disease

Craniofacial \ Cleft Lip and/or palate

Craniofacial \ Craniosynostosis

Craniofacial \ Other

Diabetes \ Diabetes Type I

August 13, 2019 of 142




Diabetes \ Diabetes Type II - No Insulin \ Diet management only

Diabetes \ Diabetes Type II - No Insulin \ Oral Anthyperglycemic Agents

Diabetes \ Diabetes Type II - No Insulin

Diabetes \ Diabetes Type Unknown

Endocrine \ Hypothyroidism | Managed

Endocrine \ Hypothyroidism | Unmanaged

Endocrine \ Hypothyroidism | Management Unknown

Endocrine \ Hyperthyroidism | Managed

Endocrine \ Hyperthyroidism | Unmanaged

Endocrine \ Hyperthyroidism | Management Unknown

Endocrine \ Other

Gastrointestinal \ Colitis

Gastrointestinal \ Crohns

Gastrointestinal \ Hepatitis

Gastrointestinal \ Liver/Gallbaldder | Cholecystitis

Gastrointestinal \ Liver/Gallbladder | Intrahepatic cholestasis of pregnancy

Gastrointestinal \ Liver/Gallbladder | Other

Gastrointestinal \ Other

Genetics \ CGH Microarray abnormality polymorphism

Genetics \ Chromosome Abnormality

Genetics \ Chromosome Rearrangement (balanced)

Genetics \ Other birth defects

August 13, 2019 of 142




Genetics \ Other genetic inherited disorders/syndromes

Genito Urinary \ Acquired Renal(insufficiency - chronic infections)

Genito Urinary \ Congenital/Genetic Renal (renal agenesis - pelvic kidney)

Genito Urinary \ Other

Genito Urinary \ Renal Disease

Genito Urinary \ Uterine Anomalies

Haematology \ Chronic Anemia

Haematology \ Gestational Thrombocytopenia

Haematology \ Haemophilia (A and B Von Willibrands)

Haematology \ Idiopathic Thrombocytopenia

Haematology \ Other

Haematology \ Sickle Cell Disease

Haematology \ Thalassemia

Haematology \ Thrombophilia

Musculoskeletal \ Achondroplasia

Musculoskeletal \ Limb Reduction Defects

Musculoskeletal \ Muscular Dystrophy/Neuromuscular disorder

Musculoskeletal \ Myotonic Dystrophy

Musculoskeletal \ Osteogenesis Imperfecta

Musculoskeletal \ Musculoskeletal (Unspecified)

Neurodevelopmental \ Autism

Neurodevelopmental \ Developmental Delay (Mental Retardation)

Neurodevelopmental \ Fragile X

August 13, 2019 of 142




Neurodevelopmental \ Hearing Disorder

Neurodevelopmental \ Learning Disabilities

Neurodevelopmental \ Vision Disorder

Neurodevelopmental \ Other

Neurology \ Cerebral palsy

Neurology \ Epilepsy/Seizures | Pre-existing Select if epilepsy and/or seizures were pre-exisiting prior to pregnancy.

Neurology \ Epilepsy/Seizures | Seizure occurred in current pregnancy

Select if onset of epilepsy and/or seizures was during pregnancy or if epilepsy/seizure were pre-exisiting and a seizure occurred during the pregnancy.

Neurology \ Multiple Sclerosis

Neurology \ Myasthenia Gravis

Neurology \ Spina Bifida/NTD

Neurology \ Other

Pulmonary \ Asthma | Pre-existing Select if asthma was pre-exisiting prior to pregnancy.

Pulmonary \ Asthma | Occurred in current pregnancy

Select if onset of asthma was during pregnancy or if asthma was pre-exisiting and an asthma attack or exacerbation occurred during the pregnancy.

Pulmonary \ Cystic Fibrosis

Pulmonary \ Previous Pulmonary Embolism/DVT

Pulmonary \ Pulmonary Hypertension

Pulmonary \ Other

Recurrent Spontaneous Abortion

Other, specify: This pick list value includes Health conditions that are not included in the specified available categories. For example, hip displasia, congenital abnormality.

Unknown

Musculoskeletal \ Other

August 13, 2019 of 142


Maternal Height (cm) M0017 Maternal height, measured in imperial or metric units. Reported in metric units.

Maternal Height Is Unknown

M0017UN

Maternal Height value entered by user through UI

M0017USERVAL

Maternal Marital Status M0010 Marital status of mother at time of collection (Maternal Serum Screen).

Married/Common Law

Separated/Divorced

Single

Unknown

Maternal Occupation M0015 Mother's paid occupation. Agriculture \ Natural Resources \ Agriculture \ Farm Worker

Agriculture \ Natural Resources \ Environmental Field worker

Agriculture \ Natural Resources \ Environmentalist

Agriculture \ Natural Resources \ Farmer

Agriculture \ Natural Resources \ Fisherman

Agriculture \ Natural Resources \ Forestry Worker

Agriculture \ Natural Resources \ Hunter

Agriculture \ Natural Resources \ Landscaper \ Gardener

Agriculture \ Natural Resources \ Miner

Agriculture \ Natural Resources \ Nuclear Plant Worker

Agriculture \ Natural Resources \ Oil & Gas Worker

Agriculture \ Natural Resources \ Other

Art \ Culture \ Sport \ Actor

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Art \ Culture \ Sport \ Archivist

Art \ Culture \ Sport \ Artist

Art \ Culture \ Sport \ Athlete

Art \ Culture \ Sport \ Coach

Art \ Culture \ Sport \ Conductor

Art \ Culture \ Sport \ Conservator

Art \ Culture \ Sport \ Curator

Art \ Culture \ Sport \ Dancer

Art \ Culture \ Sport \ Director

Art \ Culture \ Sport \ Editor

Art \ Culture \ Sport \ Events co-ordinator

Art \ Culture \ Sport \ Exotic Dancer

Art \ Culture \ Sport \ Fashion Designer

Art \ Culture \ Sport \ Film producer

Art \ Culture \ Sport \ Fitness instructor

Art \ Culture \ Sport \ Golf course superintendant

Art \ Culture \ Sport \ Graphic Designer

Art \ Culture \ Sport \ Interior Designer

Art \ Culture \ Sport \ Jewellery designer

Art \ Culture \ Sport \ Journalist

Art \ Culture \ Sport \ Librarian

Art \ Culture \ Sport \ Musician

Art \ Culture \ Sport \ Other

Art \ Culture \ Sport \ Personal trainer

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Art \ Culture \ Sport \ Photographer

Art \ Culture \ Sport \ Producer

Art \ Culture \ Sport \ Singer

Art \ Culture \ Sport \ Writer \ Author

Govt. \ Business \ Admin.\ Finance \ Accountant

Govt. \ Business \ Admin.\ Finance \ Actuary

Govt. \ Business \ Admin.\ Finance \ Administrative Officer

Govt. \ Business \ Admin.\ Finance \ Auditor

Govt. \ Business \ Admin.\ Finance \ Bank Teller

Govt. \ Business \ Admin.\ Finance \ Banker

Govt. \ Business \ Admin.\ Finance \ Bookkeeper

Govt. \ Business \ Admin.\ Finance \ Business analyst

Govt. \ Business \ Admin.\ Finance \ Civil servant

Govt. \ Business \ Admin.\ Finance \ Clerk

Govt. \ Business \ Admin.\ Finance \ Company executive

Govt. \ Business \ Admin.\ Finance \ Consultant

Govt. \ Business \ Admin.\ Finance \ Director

Govt. \ Business \ Admin.\ Finance \ Executive assistant

Govt. \ Business \ Admin.\ Finance \ Financial Advisor \ Officer

Govt. \ Business \ Admin.\ Finance \ Government Official \ Legislator

Govt. \ Business \ Admin.\ Finance \ Human Resources Worker

Govt. \ Business \ Admin.\ Finance \ Import \ Export

Govt. \ Business \ Admin.\ Finance \ Insurance

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Govt. \ Business \ Admin.\ Finance \ Investment Advisor

Govt. \ Business \ Admin.\ Finance \ Manager

Govt. \ Business \ Admin.\ Finance \ Mortgage broker

Govt. \ Business \ Admin.\ Finance \ Other

Govt. \ Business \ Admin.\ Finance \ Secretary \ Clerical

Govt. \ Business \ Admin.\ Finance \ Securities Agent

Govt. \ Business \ Admin.\ Finance \ Stock Broker

Healthcare \ Aesthetician

Healthcare \ Behavioural therapist

Healthcare \ Chiropractor

Healthcare \ Dental Assistant

Healthcare \ Dental Hygienist

Healthcare \ Dentist

Healthcare \ Denturist

Healthcare \ Dietary Aide

Healthcare \ Dietician

Healthcare \ Genetic Counsellor

Healthcare \ Lab Technician

Healthcare \ LPN (licenced practical nurse)

Healthcare \ Massage therapist

Healthcare \ Medical receptionist

Healthcare \ Medical Technologist \ Technician

Healthcare \ Midwife

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Healthcare \ MRI technologist

Healthcare \ Nurse (RN or BScN)

Healthcare \ Nutritionist

Healthcare \ Occupational Therapist (OT)

Healthcare \ Optician \ Optometrist

Healthcare \ Other

Healthcare \ Paramedic

Healthcare \ Patient relations

Healthcare \ Personal care worker

Healthcare \ Pharmaceutical Rep.

Healthcare \ Pharmacist

Healthcare \ Pharmacy technician

Healthcare \ Physician

Healthcare \ Physiotherapist

Healthcare \ Prosthetist

Healthcare \ Psychologist

Healthcare \ Psychotherapist

Healthcare \ Public health inspector

Healthcare \ Radiation therapist

Healthcare \ Recreation worker

Healthcare \ Respiratory therapist

Healthcare \ Speech Therapist

Healthcare \ Veterinarian

Home \ other \ Homemaker

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Home \ other \ Other

Home \ other \ Recently immigrated - not working yet

Home \ other \ Self employed

Home \ other \ Unemployed

Home \ other \ Unknown

Police \ Military \ Fire \ Airport screening officer

Police \ Military \ Fire \ Firefighter

Police \ Military \ Fire \ Law enforcement officer - other

Police \ Military \ Fire \ Military \ Soldier

Police \ Military \ Fire \ Other

Police \ Military \ Fire \ Police

Police \ Military \ Fire \ Private detective

Police \ Military \ Fire \ Sailor

Police \ Military \ Fire \ Security guard

Processing \ Manufacturing \ Chemical Plant Worker

Processing \ Manufacturing \ Delivery \ supplies

Processing \ Manufacturing \ Distribution supervisor

Processing \ Manufacturing \ Factory \ Assembly Line Worker

Processing \ Manufacturing \ Fish Plant Worker

Processing \ Manufacturing \ Food processing

Processing \ Manufacturing \ Foundry Worker

Processing \ Manufacturing \ Inventory auditor - warehouse

Processing \ Manufacturing \ Labourer (Processing)

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Processing \ Manufacturing \ Mineral \ Metal Processing Operator

Processing \ Manufacturing \ Other

Processing \ Manufacturing \ Printer

Processing \ Manufacturing \ Product manager

Processing \ Manufacturing \ Quality control

Processing \ Manufacturing \ Rubber Plant Worker

Processing \ Manufacturing \ Sheet metal worker

Processing \ Manufacturing \ Shipping \ Receiving

Processing \ Manufacturing \ Supervisor (Processing)

Processing \ Manufacturing \ Textile \ Dye Worker

Processing \ Manufacturing \ Warehouse manager

Sales \ Service \ Animal Control Officer

Sales \ Service \ Automobile detailing

Sales \ Service \ Babysitter \ Nanny

Sales \ Service \ Baker

Sales \ Service \ Bartender

Sales \ Service \ Butcher

Sales \ Service \ Car rental agency

Sales \ Service \ Cashier

Sales \ Service \ Chef \ Cook

Sales \ Service \ Childcare Worker

Sales \ Service \ Cleaner

Sales \ Service \ Concierge

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Sales \ Service \ Customer service agent

Sales \ Service \ Dry Cleaning \ Laundry Worker

Sales \ Service \ Esthetician

Sales \ Service \ Exterminator

Sales \ Service \ Funeral director

Sales \ Service \ Hairdresser \ Barber

Sales \ Service \ Housekeeper

Sales \ Service \ Insurance Agent

Sales \ Service \ Letter Carrier \ Postal Worker

Sales \ Service \ Manager

Sales \ Service \ Marketing

Sales \ Service \ Other

Sales \ Service \ Realtor

Sales \ Service \ Restauranteur

Sales \ Service \ Sales Rep.\ Salesperson

Sales \ Service \ Stocker

Sales \ Service \ Supervisor (sales\service)

Sales \ Service \ Telemarketer \ call centre agent

Sales \ Service \ Travel Agent

Sales \ Service \ Waitress \ Waiter \ Restaurant worker

Sales \ Service \ Wholesaler

Science \ IT \ Architect

Science \ IT \ Computer Programmer

Science \ IT \ Data entry

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Science \ IT \ Draftsman \ Designer

Science \ IT \ Engineer

Science \ IT \ IT (Information Technology)

Science \ IT \ Other

Science \ IT \ Project manager

Science \ IT \ Research assistant

Science \ IT \ Research scientist

Science \ IT \ Scientist

Science \ IT \ Statistician

Science \ IT \ Systems Analyst

Science \ IT \ Technician \ Technologist

Science \ IT \ Web designer

Soc. Science \ Education \ Religion \ Child & Youth worker

Soc. Science \ Education \ Religion \ Early Childhood Educator \ Daycare worker

Soc. Science \ Education \ Religion \ Judge

Soc. Science \ Education \ Religion \ Lawyer

Soc. Science \ Education \ Religion \ Military

Soc. Science \ Education \ Religion \ Minister \ Pastor

Soc. Science \ Education \ Religion \ Notary Public

Soc. Science \ Education \ Religion \ Other

Soc. Science \ Education \ Religion \ Post graduate studies

Soc. Science \ Education \ Religion \ Professor

Soc. Science \ Education \ Religion \ Psychologist

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Soc. Science \ Education \ Religion \ Recreation therapist

Soc. Science \ Education \ Religion \ Religious Leader

Soc. Science \ Education \ Religion \ Social Worker

Soc. Science \ Education \ Religion \ Student (college)

Soc. Science \ Education \ Religion \ Student (high school)

Soc. Science \ Education \ Religion \ Teacher

Soc. Science \ Education \ Religion \ Teacher's aide \ Tutor

Trades\Transport \ Aircraft technician

Trades\Transport \ Autobody shop

Trades\Transport \ Boiler maker

Trades\Transport \ Bus Driver

Trades\Transport \ Carpenter

Trades\Transport \ Construction worker

Trades\Transport \ Contractor

Trades\Transport \ Electrician

Trades\Transport \ Flight Attendant

Trades\Transport \ Flooring contractor

Trades\Transport \ Forklift operator

Trades\Transport \ Garbage Collector

Trades\Transport \ Gas Fitter

Trades\Transport \ Handyman

Trades\Transport \ Heavy equipment operator

Trades\Transport \ Janitor

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Trades\Transport \ Labourer (Builder)

Trades\Transport \ Mechanic

Trades\Transport \ Miner

Trades\Transport \ Oil rig worker

Trades\Transport \ Other

Trades\Transport \ Packer

Trades\Transport \ Painter

Trades\Transport \ Pilot

Trades\Transport \ Plumber

Trades\Transport \ Power Station Operator

Trades\Transport \ Project manager

Trades\Transport \ Railway Conductor \ Worker

Trades\Transport \ Roofer

Trades\Transport \ Security \ Commissionaire

Trades\Transport \ Supervisor

Trades\Transport \ Tailor \ Dressmaker

Trades\Transport \ Taxi Driver

Trades\Transport \ Telecommunication \ Cable Worker

Trades\Transport \ Telephone technician

Trades\Transport \ Tool & Die Maker

Trades\Transport \ Transportation Controller

Trades\Transport \ Truck Driver

Trades\Transport \ Welder

August 13, 2019 of 142


Maternal Occupation M0015 Mother's paid occupation. Unknown

Maternal smoking at first prenatal visit

M0020-1 Self-reported amount of smoking per day at time of first prenatal visit

None

10-20 cigarettes/day

>20 cigarettes/day

Amount unknown

Unknown

Medication Exposure in Pregnancy

D0018 Indicate type of prescription and non-prescription (over-the-counter) medications taken during this pregnancy

None

Amphetamines

Antibiotics

Anticonvulsants

Anti-emetics

Antihistamines

Antinflammatory

Antiretrovirals

Antirheumatic

Antiviral

Cardiovascular

Chemotherapeutic Agents

Contraceptives

Gastrointestinal Agents

General anaesthetic

Herbal or homeopathic remedies

Insulin

August 13, 2019 of 142


Medication Exposure in Pregnancy

D0018 Indicate type of prescription and non-prescription (over-the-counter) medications taken during this pregnancy

Methadone/Subutex Prescription medications for the treatment of opioid addiction, they reduce cravings for the drug and suppress symptoms of opioid withdrawal.

Opioids Opioids are a type of drug used to relieve pain. Examples include: morphine, codeine, fentanyl, oxycodone, heroin, and hydromorphone. Opiates are naturally occurring narcotics whereas opioids include synthetic narcotics. (PCMCH Neonatal Abstinency Syndrome (NAS) Clinical Practice Guidelines, March 30, 2012).

Other over the counter medications

Other prescription

Psychotropic

Selective Seritonin Reuptake Inhibitors

Thyroid Medication

Vitamin A & Congeners

Vitamins

Other

Unknown

Mental Health Concerns M0048 Indicate any maternal mental health concerns during this pregnancy including those pre-existing, diagnosed during pregnancy or active during pregnancy. Both diagnosed or self reported.

None

Anxiety

Depression

History of Postpartum Depression

Addiction

Bipolar

Schizophrenia

Other

Unknown

August 13, 2019 of 142


Microarray genomic build / assembly

FAN1008-1 Indicates the human genome sequence assembly that was used to design and interpret the microarray data. In order to interpret any given microarray result (other than normal), the correct genome build/assembly must be used.

GRCh37/hg19

NCBI36/hg18

Unknown

Microarray results FAN1008-2 A comparison of patient DNA to ‘normal’ DNA (comparative genomic hybridization) used to assess gains and/or losses in DNA content.

Molecular Genetic Testing Details in Standard Nomenclature

FAN1005 The molecular results of the investigations, either selected from the pick list or entered in standard c.DNA nomenclature (for example, c.1274_1277dupTATC)

Molecular Genetic Testing Gene(s)

FAN1003 The gene on which molecular testing was performed Alpha globin

Aspartoacylase

Beta globin

CFTR

DMPK

Factor IX

Factor VIII

FANCC

FMR1

Hexosaminidase A

IKBKAP

MCOLN1

RecQ DNA helicase

SMPD1

Specify gene

August 13, 2019 of 142


Molecular Genetic Testing Gene(s) Other

FAN1010 The gene on which molecular testing was performed if the gene does not exist in the provided pick list

Molecular Genetic Testing Result General

FAN1004 Indicates whether an individual is affected with the disease, is a carrier of the disease or whether no mutations were identified

Affected

Affected (> 201 repeats), specify repeat size

Affected, specify mutations

Affected, specify repeat size (>49 repeats)

Carrier

Carrier, specify mutation

No mutations detected

Normal repeat size (>35 repeats) specify repeat size

Normal repeat size (5-44 repeats)

Premutation carrier (>44 repeats and >201 repeats) specify repeat size

Premutation carrier (35-49 repeats) specify repeat size

Unknown

Mother resides with smoker at first prenatal visit

M0020-2 At time of first prenatal visit, self-reported indication of whether woman resides with smoker

NT level MMMSS0017 Measurement of the nuchal translucency (NT), an echolucent area seen in longitudinal views of the back of the neck on ultrasound reported in millimeters. (Cunningham, 2005)

Number of Fetuses FAN0007 Number of fetuses in the current pregnancy. For Prenatal Screening Follow Up encounters, this field refers to the number of fetuses that the prenatal screening result was based on.

1

2

3

4

August 13, 2019 of 142


Number of Fetuses FAN0007 Number of fetuses in the current pregnancy. For Prenatal Screening Follow Up encounters, this field refers to the number of fetuses that the prenatal screening result was based on.

5

6

7

8

Unknown

Number of Living Children (L)

D0011 Number of living children at the time of pregnancy. Biological only, carried by mother, not necessarily cared for by mother and excludes adopted because this refers to mother's pregnancy history.

0

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

August 13, 2019 of 142


Number of Living Children (L)

D0011 Number of living children at the time of pregnancy. Biological only, carried by mother, not necessarily cared for by mother and excludes adopted because this refers to mother's pregnancy history.

Unknown

Number of Previous Abortions (A)

M0038 The total number of spontaneous or therapeutic abortions occurring prior to 20 completed weeks gestation. Spontaneous losses include ectopic pregnancy, missed abortion, blighted ova, and molar pregnancy.

0

1

2

3

4

5

6

10

11

12

13

14

15

16

17

18

19

20

Unknown

August 13, 2019 of 142


Number of Previous Cesarean Births

M0035 The total number of previous pregnancies resulting in a cesarean birth occurring at greater than or equal to 20 weeks and 0 days gestation. Number excludes current pregnancy. Multiple gestations are counted as one birth event.

0

1

2

3

4

5

≥6

Unknown

Number of Previous Preterm Pregnancies (P)

M0032 The total number of previous pregnancies delivered at less than 37 weeks and 0 days gestation. Multiple gestations are counted as one birth event.

0

1

2

3

4

5

6

7

8

9

10

Unknown

August 13, 2019 of 142


Number of Previous Stillbirths (S)

M0033 The total number of previous pregnancies resulting in a stillbirth. A stillbirth is defined as a product of conception weighing 500 grams or more or of 20 or more weeks gestation which, after being completely delivered, shows no sign of life. Intentional termination of pregnancy that meet either criterion are also classified as stillbirths in Ontario (1). Vital Statistics, Ontario Office of Registrar General (ORG), ServiceOntario.

0

1

2

3

4

5

6

Unknown

Number of Previous Term Pregnancies (T)

M0031 The total number of previous pregnancies delivered at greater than or equal to 37 weeks and 0 days gestation. Multiple gestations are counted as one birth event

0

1

2

3

4

5

6

7

8

9

10

11

August 13, 2019 of 142


Number of Previous Term Pregnancies (T)

M0031 The total number of previous pregnancies delivered at greater than or equal to 37 weeks and 0 days gestation. Multiple gestations are counted as one birth event

12

13

14

15

16

Unknown

Number of Previous Vaginal Births

M0034 The total number of prior pregnancies resulting in a vaginal birth occurring at greater than or equal to 20 completed weeks gestation. Number excludes current pregnancy. Multiple gestations are counted as one birth event.

0

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

August 13, 2019 of 142


Number of Previous Vaginal Births

M0034 The total number of prior pregnancies resulting in a vaginal birth occurring at greater than or equal to 20 completed weeks gestation. Number excludes current pregnancy. Multiple gestations are counted as one birth event.

16

Unknown

Number of previous VBACs

M0036 The total number of previous vaginal births after cesarean section (VBAC).

0

1

2

3

4

5

6

Unknown

Oncology Radiation Therapy Exposure In Pregnancy

D0015 Indicate whether this women underwent radiation therapy if there is a diagnosis of cancer prior to or during this pregnancy

Parity NEW1101 The number of previous births (term + preterm). This is automatically calculated.

Paternal Age P0001 Age of father at the time of data collection expressed in completed years.

Paternal Ancestry P0003 Father's ethnic background to identify the patient as a member of a specific racial or ethnic group to assess genetic risks.

East Asian

Asian Description: Indian, Pakistani, Bangladeshi

Black Description: African, Caribbean, African-American

Caucasian Description: European, Middle Eastern, North African, Hispanic

Other

Unknown

August 13, 2019 of 142


Paternal Family History NEW0013 Family health history of intended father at time of data collection. If sperm donor then document in Source of Gametes on Pregnancy tab.

None

Autism








Cystic Fibrosis


Fragile X

Hemoglobinopathy




Metabolic Disorder


Skeletal Dysplasia


Tay Sachs

Other

Unknown

August 13, 2019 of 142


Paternal Health History P0004 Health history of father at time of data collection. None

Autism








Cystic Fibrosis


Fragile X

Hemoglobinopathy




Metabolic Disorder


Skeletal Dysplasia


Tay Sachs

Other

Unknown

Paternal Occupation P0002 Paternal Occupation at time of data collection. Agriculture \ Natural Resources \ Agriculture \ Farm Worker

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Agriculture \ Natural Resources \ Environmental Field worker

Agriculture \ Natural Resources \ Environmentalist

Agriculture \ Natural Resources \ Farmer

Agriculture \ Natural Resources \ Fisherman

Agriculture \ Natural Resources \ Forestry Worker

Agriculture \ Natural Resources \ Hunter

Agriculture \ Natural Resources \ Landscaper \ Gardener

Agriculture \ Natural Resources \ Miner

Agriculture \ Natural Resources \ Nuclear Plant Worker

Agriculture \ Natural Resources \ Oil & Gas Worker

Agriculture \ Natural Resources \ Other

Art \ Culture \ Sport \ Actor

Art \ Culture \ Sport \ Archivist

Art \ Culture \ Sport \ Artist

Art \ Culture \ Sport \ Athlete

Art \ Culture \ Sport \ Coach

Art \ Culture \ Sport \ Conductor

Art \ Culture \ Sport \ Conservator

Art \ Culture \ Sport \ Curator

Art \ Culture \ Sport \ Dancer

Art \ Culture \ Sport \ Director

Art \ Culture \ Sport \ Editor

Art \ Culture \ Sport \ Events co-ordinator

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Art \ Culture \ Sport \ Exotic Dancer

Art \ Culture \ Sport \ Fashion Designer

Art \ Culture \ Sport \ Film producer

Art \ Culture \ Sport \ Fitness instructor

Art \ Culture \ Sport \ Golf course superintendant

Art \ Culture \ Sport \ Graphic Designer

Art \ Culture \ Sport \ Interior Designer

Art \ Culture \ Sport \ Jewellery designer

Art \ Culture \ Sport \ Journalist

Art \ Culture \ Sport \ Librarian

Art \ Culture \ Sport \ Musician

Art \ Culture \ Sport \ Other

Art \ Culture \ Sport \ Personal trainer

Art \ Culture \ Sport \ Photographer

Art \ Culture \ Sport \ Producer

Art \ Culture \ Sport \ Singer

Art \ Culture \ Sport \ Writer \ Author

Govt. \ Business \ Admin.\ Finance \ Accountant

Govt. \ Business \ Admin.\ Finance \ Actuary

Govt. \ Business \ Admin.\ Finance \ Administrative Officer

Govt. \ Business \ Admin.\ Finance \ Auditor

Govt. \ Business \ Admin.\ Finance \ Bank Teller

Govt. \ Business \ Admin.\ Finance \ Banker

Govt. \ Business \ Admin.\ Finance \ Bookkeeper

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Govt. \ Business \ Admin.\ Finance \ Business analyst

Govt. \ Business \ Admin.\ Finance \ Civil servant

Govt. \ Business \ Admin.\ Finance \ Clerk

Govt. \ Business \ Admin.\ Finance \ Company executive

Govt. \ Business \ Admin.\ Finance \ Consultant

Govt. \ Business \ Admin.\ Finance \ Director

Govt. \ Business \ Admin.\ Finance \ Executive assistant

Govt. \ Business \ Admin.\ Finance \ Financial Advisor \ Officer

Govt. \ Business \ Admin.\ Finance \ Government Official \ Legislator

Govt. \ Business \ Admin.\ Finance \ Human Resources Worker

Govt. \ Business \ Admin.\ Finance \ Import \ Export

Govt. \ Business \ Admin.\ Finance \ Insurance

Govt. \ Business \ Admin.\ Finance \ Investment Advisor

Govt. \ Business \ Admin.\ Finance \ Manager

Govt. \ Business \ Admin.\ Finance \ Mortgage broker

Govt. \ Business \ Admin.\ Finance \ Other

Govt. \ Business \ Admin.\ Finance \ Secretary \ Clerical

Govt. \ Business \ Admin.\ Finance \ Securities Agent

Govt. \ Business \ Admin.\ Finance \ Stock Broker

Healthcare \ Aesthetician

Healthcare \ Behavioural therapist

Healthcare \ Chiropractor

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Healthcare \ Dental Assistant

Healthcare \ Dental Hygienist

Healthcare \ Dentist

Healthcare \ Denturist

Healthcare \ Dietary Aide

Healthcare \ Dietician

Healthcare \ Genetic Counsellor

Healthcare \ Lab Technician

Healthcare \ LPN (licenced practical nurse)

Healthcare \ Massage therapist

Healthcare \ Medical receptionist

Healthcare \ Medical Technologist \ Technician

Healthcare \ Midwife

Healthcare \ MRI technologist

Healthcare \ Nurse (RN or BScN)

Healthcare \ Nutritionist

Healthcare \ Occupational Therapist (OT)

Healthcare \ Optician \ Optometrist

Healthcare \ Other

Healthcare \ Paramedic

Healthcare \ Patient relations

Healthcare \ Personal care worker

Healthcare \ Pharmaceutical Rep.

Healthcare \ Pharmacist

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Healthcare \ Pharmacy technician

Healthcare \ Physician

Healthcare \ Physiotherapist

Healthcare \ Prosthetist

Healthcare \ Psychologist

Healthcare \ Psychotherapist

Healthcare \ Public health inspector

Healthcare \ Radiation therapist

Healthcare \ Recreation worker

Healthcare \ Respiratory therapist

Healthcare \ Speech Therapist

Healthcare \ Veterinarian

Home \ other \ Homemaker

Home \ other \ Other

Home \ other \ Recently immigrated - not working yet

Home \ other \ Self employed

Home \ other \ Unemployed

Home \ other \ Unknown

Police \ Military \ Fire \ Airport screening officer

Police \ Military \ Fire \ Firefighter

Police \ Military \ Fire \ Law enforcement officer - other

Police \ Military \ Fire \ Military \ Soldier

Police \ Military \ Fire \ Other

Police \ Military \ Fire \ Police

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Police \ Military \ Fire \ Private detective

Police \ Military \ Fire \ Sailor

Police \ Military \ Fire \ Security guard

Processing \ Manufacturing \ Chemical Plant Worker

Processing \ Manufacturing \ Delivery \ supplies

Processing \ Manufacturing \ Distribution supervisor

Processing \ Manufacturing \ Factory \ Assembly Line Worker

Processing \ Manufacturing \ Fish Plant Worker

Processing \ Manufacturing \ Food processing

Processing \ Manufacturing \ Foundry Worker

Processing \ Manufacturing \ Inventory auditor - warehouse

Processing \ Manufacturing \ Labourer (Processing)

Processing \ Manufacturing \ Mineral \ Metal Processing Operator

Processing \ Manufacturing \ Other

Processing \ Manufacturing \ Printer

Processing \ Manufacturing \ Product manager

Processing \ Manufacturing \ Quality control

Processing \ Manufacturing \ Rubber Plant Worker

Processing \ Manufacturing \ Sheet metal worker

Processing \ Manufacturing \ Shipping \ Receiving

Processing \ Manufacturing \ Supervisor (Processing)

Processing \ Manufacturing \ Textile \ Dye Worker

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Processing \ Manufacturing \ Warehouse manager

Sales \ Service \ Animal Control Officer

Sales \ Service \ Automobile detailing

Sales \ Service \ Babysitter \ Nanny

Sales \ Service \ Baker

Sales \ Service \ Bartender

Sales \ Service \ Butcher

Sales \ Service \ Car rental agency

Sales \ Service \ Cashier

Sales \ Service \ Chef \ Cook

Sales \ Service \ Childcare Worker

Sales \ Service \ Cleaner

Sales \ Service \ Concierge

Sales \ Service \ Customer service agent

Sales \ Service \ Dry Cleaning \ Laundry Worker

Sales \ Service \ Esthetician

Sales \ Service \ Exterminator

Sales \ Service \ Funeral director

Sales \ Service \ Hairdresser \ Barber

Sales \ Service \ Housekeeper

Sales \ Service \ Insurance Agent

Sales \ Service \ Letter Carrier \ Postal Worker

Sales \ Service \ Manager

Sales \ Service \ Marketing

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Sales \ Service \ Other

Sales \ Service \ Realtor

Sales \ Service \ Restauranteur

Sales \ Service \ Sales Rep.\ Salesperson

Sales \ Service \ Stocker

Sales \ Service \ Supervisor (sales\service)

Sales \ Service \ Telemarketer \ call centre agent

Sales \ Service \ Travel Agent

Sales \ Service \ Waitress \ Waiter \ Restaurant worker

Sales \ Service \ Wholesaler

Science \ IT \ Architect

Science \ IT \ Computer Programmer

Science \ IT \ Data entry

Science \ IT \ Draftsman \ Designer

Science \ IT \ Engineer

Science \ IT \ IT (Information Technology)

Science \ IT \ Other

Science \ IT \ Project manager

Science \ IT \ Research assistant

Science \ IT \ Research scientist

Science \ IT \ Scientist

Science \ IT \ Statistician

Science \ IT \ Systems Analyst

Science \ IT \ Technician \ Technologist

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Science \ IT \ Web designer

Soc. Science \ Education \ Religion \ Child & Youth worker

Soc. Science \ Education \ Religion \ Early Childhood Educator \ Daycare worker

Soc. Science \ Education \ Religion \ Judge

Soc. Science \ Education \ Religion \ Lawyer

Soc. Science \ Education \ Religion \ Military

Soc. Science \ Education \ Religion \ Minister \ Pastor

Soc. Science \ Education \ Religion \ Notary Public

Soc. Science \ Education \ Religion \ Other

Soc. Science \ Education \ Religion \ Post graduate studies

Soc. Science \ Education \ Religion \ Professor

Soc. Science \ Education \ Religion \ Psychologist

Soc. Science \ Education \ Religion \ Recreation therapist

Soc. Science \ Education \ Religion \ Religious Leader

Soc. Science \ Education \ Religion \ Social Worker

Soc. Science \ Education \ Religion \ Student (college)

Soc. Science \ Education \ Religion \ Student (high school)

Soc. Science \ Education \ Religion \ Teacher

Soc. Science \ Education \ Religion \ Teacher's aide \ Tutor

Trades\Transport \ Aircraft technician

Trades\Transport \ Autobody shop

Trades\Transport \ Boiler maker

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Trades\Transport \ Bus Driver

Trades\Transport \ Carpenter

Trades\Transport \ Construction worker

Trades\Transport \ Contractor

Trades\Transport \ Electrician

Trades\Transport \ Flight Attendant

Trades\Transport \ Flooring contractor

Trades\Transport \ Forklift operator

Trades\Transport \ Garbage Collector

Trades\Transport \ Gas Fitter

Trades\Transport \ Handyman

Trades\Transport \ Heavy equipment operator

Trades\Transport \ Janitor

Trades\Transport \ Labourer (Builder)

Trades\Transport \ Mechanic

Trades\Transport \ Miner

Trades\Transport \ Oil rig worker

Trades\Transport \ Other

Trades\Transport \ Packer

Trades\Transport \ Painter

Trades\Transport \ Pilot

Trades\Transport \ Plumber

Trades\Transport \ Power Station Operator

Trades\Transport \ Project manager

August 13, 2019 of 142


Paternal Occupation P0002 Paternal Occupation at time of data collection. Trades\Transport \ Railway Conductor \ Worker

Trades\Transport \ Roofer

Trades\Transport \ Security \ Commissionaire

Trades\Transport \ Supervisor

Trades\Transport \ Tailor \ Dressmaker

Trades\Transport \ Taxi Driver

Trades\Transport \ Telecommunication \ Cable Worker

Trades\Transport \ Telephone technician

Trades\Transport \ Tool & Die Maker

Trades\Transport \ Transportation Controller

Trades\Transport \ Truck Driver

Trades\Transport \ Welder

Unknown

Pregnancy Outcome F0053 Indicates the actual outcome of this pregnancy, including live births, stillbirths, terminations and losses. BORN encourages all hospitals to complete a Birth Mother encounter for all pregnancy losses that occur in your unit.

Stillbirth at >=20wks or >=500gms \ Termination

Stillbirth is defined as the complete expulsion or extraction from its mother of a product of conception either after the 20th week of pregnancy or after the product of conception has attained the weight of 500 grams or more, and where after such expulsion or extraction there is no breathing, beating of the heart, pulsation of the umbilical cord or movement of voluntary muscle (Vital Statistics Act, Ontario).

Pregnancy Loss <20 weeks and <500 gms \ Spontaneous Miscarriage

Select Pregnancy Loss <20 weeks only if weight is <500 gms.

Pregnancy Loss <20 weeks and <500 gms \ Termination

Select Pregnancy Loss <20 weeks only if weight is <500 gms.

Pregnancy Continued

Prenatal Diagnosis SubTest Name

PSDP004SUB The name of the specific test that was performed as selected from the defined pick list. See "Prenatal Diagnostic Procedures" tab for additional info

Prenatal Diagnosis Test Category

PSDP003 The category(-ies) of prenatal diagnostic testing offered. Unknown

August 13, 2019 of 142


Prenatal Diagnosis Test Failure Reason

PSDP007 The explanation as to why the prenatal diagnostic procedure and / or analysis failed, entered as free text.

Prenatal Diagnosis Test FISH Result

PSDP011 The specific results of the FISH prenatal diagnostic test Down syndrome

Trisomy 18

Trisomy 13


45, X, mosaic

47, XXX


47, XYY


4p16.3 deletion / Wolf Hirschhorn

5p15.2 deletion / Cri du Chat

17p11.2 deletion / Smith Magenis syndrome

7q11.23 deletion / Williams syndrome

16p13.3 / Rubinstein-Taybi


17p13.3 deletion / Miller-Dieker syndrome

15q11-13 deletion / Prader Willi / Angelman syndromes


11p13 deletion / WAGR




August 13, 2019 of 142


Prenatal Diagnosis Test FISH Result

PSDP011 The specific results of the FISH prenatal diagnostic test 1q21 deletion / thrombocytopenia absent radius


22q11.21 deletion / Cat-eye syndrome


Duplication 7q11.23


22q11.2 duplication

1q21.1 duplication

3q29 duplication

7q11.23 duplication




17p11.2 duplication


Other, specify:

Unknown

Prenatal Diagnosis Test is Successful Flag

PSDP006 An indication as to whether the prenatal diagnostic procedure and / or analysis was successful.

Prenatal Diagnosis Test Name

PSDP004 The name of the specific test that was performed as selected from the defined pick list.

ACHE-acetycholinesterase

AF-AFP

Ashkenazi Jewish Screening Panel

Bleeding disorders, other

CMV (cytomegalovirus)

August 13, 2019 of 142




Connective Tissue disorders

Cystic Fibrosis

Embryoscopy

Entero Viruses

Fetoscopy

FISH

Fragile X

Hemoglobinopathy

Hemophilia

Herpes Simplex Virus (HSV)

HIV

Human Parvo Virus

Karyotype

Microarray

Muscle

Myotonic dystrophy

Neuromuscular disorders

QF-PCR

Rubella

Skeletal disorder

Syphilis

Tay Sachs only

Toxoplasmosis

Varicella-Zoster Virus

August 13, 2019 of 142




Other, specify:

Unknown

Prenatal Diagnosis Test Name Other

PSDP005 The name of the specific test that was performed, entered as free text or selected from the FISH probe pick list if FISH was performed.

Prenatal Diagnosis Test Result Other Value

PSDP010 The specific results of the prenatal diagnostic test as selected from the pick list or entered in free text

Prenatal Diagnosis Test Results

PSDP008 The results of the prenatal diagnostic test as selected from the defined pick list.

Abnormal

Abnormal, specify:

Affected, specify

Affected, specify disease and mutations

Affected, specify gene and mutations

Affected, specify mutations

Affected, specify repeat size

Not affected, specify repeat size

Carrier, specify disease and mutation

Carrier, specify gene and mutation

Carrier, specify mutation

Carrier, specify repeat size

Detected

No mutations detected

No mutations detected, specify gene(s):

Normal

Normal female

Normal male

August 13, 2019 of 142


Prenatal Diagnosis Test Results

PSDP008 The results of the prenatal diagnostic test as selected from the defined pick list.

Not detected

Diploid for autosomes / sex chromosomes uninterpretable

Unknown

Prenatal Diagnosis Test Results Disease

PSDP008DES The result of the prenatal diagnostic test in general terms 5-44

Free text

5-34

35-49

Alpha

45-54

55-59

Beta

50-149

Both

60-69

150-1000

>2000

70-79

List of: Alpha/Beta/Both

Factor IX

80-89

90-99

Factor VIII


August 13, 2019 of 142



PSDP008DES The result of the prenatal diagnostic test in general terms 100-109

110-119

45, X, mosaic

46, XX (normal)

120-129

130-139

46, XY (normal)

47, XX, +13 (trisomy 13)

140-200

47, XX, +16 (trisomy 16)

>200

47, XX, +18 (trisomy 18)

47, XX, +21 (trisomy 21 or Down syndrome)

47, XX, +9 (trisomy 9)

47, XXX


47, XY, +13 (trisomy 13)

47, XY, +16 (trisomy 16)

47, XY, +18 (trisomy 18)

47, XY, +21 (trisomy 21 or Down syndrome)

47, XY, +9 (trisomy 9)

47, XYY

Deletion

Down syndrome, mosaic

August 13, 2019 of 142



PSDP008DES The result of the prenatal diagnostic test in general terms Down syndrome, other

Down syndrome, translocation

Duplication

Marker chromosome

Mosaicism, confined placental, specify:

Mosaicism, specify:

Paracentric inversion, balanced

Paracentric inversion, unbalanced

Partial trisomy

Pericentric inversion, balanced

Pericentric inversion, unbalanced

Reciprocal translocation, balanced

Reciprocal translocation, unbalanced

Ring chromosome

Robertsonian translocation, balanced

Robertsonian translocation, unbalanced

Triploidy (69, XXX)

Triploidy (69, XXY)

Triploidy (69, XYY)

Trisomy 13, mosaic

Trisomy 13, other

Trisomy 13, translocation

Trisomy 16, mosaic

Trisomy 18, mosaic

August 13, 2019 of 142



PSDP008DES The result of the prenatal diagnostic test in general terms Trisomy 18, other

Trisomy 18, translocation

12540

Bloom syndrome (RecQ DNA helicase), 2281del6/ins7

Bloom syndrome (RecQ DNA helicase), other

Canavan disease (aspartoacylase), 433(-2)A>G

Canavan disease (aspartoacylase), A305E

Canavan disease (aspartoacylase), E285A

Canavan disease (aspartoacylase), other

Canavan disease (aspartoacylase), Y231X

Familial dysautonomia (IKBKAP), IVS20(+6)T>C

Familial dysautonomia (IKBKAP), other

Familial dysautonomia (IKBKAP), R696P

Fanconi anemia C (FANCC), 322delG

Fanconi anemia C (FANCC), IVS4(+4)A>T

Fanconi anemia C (FANCC), other

Mucolipidosis IV (MCOLN1), IVS3(-2)A>G

Mucolipidosis IV (MCOLN1), other

Mucolipidosis IV (MCOLN1), Δ 6.4kb

Niemann Pick type A and B (SMPD1), 1bp delfsP330

Niemann Pick type A and B (SMPD1), L302P

Niemann Pick type A and B (SMPD1), other

Niemann Pick type A and B (SMPD1), R496L

Niemann Pick type A and B (SMPD1), Δ R608

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PSDP008DES The result of the prenatal diagnostic test in general terms Tay-Sachs disease (hexosaminidase A), 1278insTATC

Tay-Sachs disease (hexosaminidase A), G269S

Tay-Sachs disease (hexosaminidase A), IVS12(+1)G>C

Tay-Sachs disease (hexosaminidase A), other

DF508

16193

47, XXY

Trisomy 21 (Down syndrome)

Trisomy 18 (Edward syndrome)

Trisomy 13 (Patau syndrome)

X (Turner syndrome)

XXY (Klinefelter syndrome)

XYY

XXX

Triploidy

Mosaic, sex chromosomes

Mosaic, autosomes

Uninterpretable

1278insTATC

G269S

IVS12(+1)G>C

Other, specify:

Unknown

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Prenatal Diagnostic Procedure Date

PSDP001DT Prenatal Diagnostic Procedure Date

Prenatal Diagnostic Procedure Offered

PSDP001OF Accepted

Declined

Not offered

Unknown

Deferred

Prenatal Diagnostic Procedure Organization

PSDP001ORG Prenatal Diagnostic Procedure Organization

Pre-pregnancy Maternal Weight (kg)

M0018 The mother's self-reported weight closest to conception and no later than 12 weeks of gestation (metric or imperial units).

Pre-pregnancy Maternal Weight Is Unknown

M0018UN

Pre-pregnancy Maternal Weight unit of measure used for data entry on the UI

M0018UOM

Pre-pregnancy Maternal Weight value entered by user through UI

M0018USERVAL Pre-pregnancy Maternal Weight value entered by user through UI

Primary Reason for Referral

FAN0023 Primary reason for the mothers' first referral to a tertiary centre for prenatal care during current pregnancy

History of Congenital Abnormality \ Maternal

History of Congenital Abnormality \ Paternal

History of Congenital Abnormality \ Sibling

History of Congenital Abnormality \ Previous Pregnancy

History of Congenital Abnormality \ Other

History of Congenital Abnormality \ Unknown

History of Inherited Condition \ Maternal

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Primary Reason for Referral

FAN0023 Primary reason for the mothers' first referral to a tertiary centre for prenatal care during current pregnancy

History of Inherited Condition \ Paternal

History of Inherited Condition \ Sibling

History of Inherited Condition \ Other

History of Inherited Condition \ Unknown

Maternal Diseases

Maternal Exposure

Mother's Age > 35

Other

Positive Prenatal Screen

Ultrasound Abnormality

Unknown

No referral

Referral Date to FMU FAN0021 Date referral was received by the Fetal Medicine Unit in current pregnancy using standard date format.

Referral Date to FMU Is Unknown

FAN0021UN Indicates that the referral date to the Fetal Medicine Unit is unknown

Referral to FMU NEW0008 Indicates whether mother was referred to fetal medicine unit during current pregnancy.

Referral to Prenatal Genetics

NEW0007 Indicates whether mother was referred to prenatal genetics during current pregnancy.

Referred to FAN by FAN0024 Name and provider number of health care provider who initiates referral to Fetal Alert Network.

Family Physician

Medical Genetics

Medical Specialist

Midwife

Nursing practitioner

Obstetrician

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Referred to FAN by FAN0024 Name and provider number of health care provider who initiates referral to Fetal Alert Network.

Perinatologist

Other

Unknown

Soft markers of ultrasound

PNFU0080-1 Variants of normal development detected by obstetrical ultrasound at specific periods during gestation which may increase the risk of a fetal anomaly and / or adverse obstetrical outcome

Anhydramnios

Brachycephaly

Choroid plexus cysts

Clinodactyly

Cystic hygroma

Ductus venosus blood flow

Echogenic yolk sac

Enlarged cisterna magna

Frontomaxillary facial angle

Hydronephrosis

Hyperechogenic bowel

Iliac angle

Intracardiac echogenic focus / focii

Intrauterine growth retardation

Nasal bone, absent

Nasal bone, hypoplastic

Nuchal fold / edema, increased

Nuchal translucency, increased

Oligohydramnios

Pericardial effusion

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Soft markers of ultrasound

PNFU0080-1 Variants of normal development detected by obstetrical ultrasound at specific periods during gestation which may increase the risk of a fetal anomaly and / or adverse obstetrical outcome

Placental thickness

Pleural effusion

Polyhydramnios

Renal pelves

Pyelectasis

Sandal gap

Short femur

Short humerus

Small ear length

Tricuspid valve regurgitation

Two vessel cord / single umbilical artery

Umbilical cord cyst

Uterine artery notching

Ventriculomegaly

Soft markers of ultrasound (level 2)

PNFU0080-2 The detailed description of the soft marker or obstetrical ultrasound finding where available

Mild

Moderate

Severe

Septated

Not septated

Normal

Abnormal (reversed)

Not otherwise specified

Biventricular

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Soft markers of ultrasound (level 2)

PNFU0080-2 The detailed description of the soft marker or obstetrical ultrasound finding where available

L ventricle

R ventricle

L atrium

R atrium

Single

Multiple

Grade I (less bright than bone)

Grade II (as bright as bone)

Grade III (brighter than bone)

Right

Left

Bilateral

Unilateral

Right artery absent

Left artery absent

Symmetrical

Asymmetrical

N/a

Unknown

Soft markers of ultrasound Measurement Name

PNFU0080-3 Name of the soft marker or obstetrical imaging finding Right Dimension (mm)

Left Dimension (mm)

Measurement (mm)

Right Measurement (mm)

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Soft markers of ultrasound Measurement Name

PNFU0080-3 Name of the soft marker or obstetrical imaging finding Left Measurement (mm)

HC Percentile

BPD Percentile

AC Percentile

FL Percentile

AFI (amniotic fluid index)

Right Percentile

Left Percentile

Degree of Angle

NT MoM

Delta NT

Soft markers of ultrasound Measurement Value

PNFU0080-4 Measurement of the soft marker or obstetrical imaging finding

Source of Gametes NEW0004 Source of sperm and egg for this pregnancy; reflects biological parents as documented or source(s) if reproductive assistance was required.

Donor egg

Donor Sperm

Donor sperm and egg

Parents as documented

Unknown

Subspecialty Consults FAN0012 Any sub-specialty consults undertaken during the course of prenatal care.

Anesthesia

Cardiology

Chaplaincy

Clinical Nurse Specialist/Advanced Practice Nurse (CNS/APN)

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Subspecialty Consults FAN0012 Any sub-specialty consults undertaken during the course of prenatal care.

Endocrine

General Surgery

Genetic Counsellor

Geneticist

MFM second opinion

Neonatology

Nephrology

Neurology

Neurosurgery

None

Orthopaedics

Other

Palliative care

Plastic Surgery

Psychiatry

Psychology

Rehab Centre

Social Work

Urology

Unknown

Time between Referral and first visit to FMU in days

FAN105 Calculated. Measured in days

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Time between Referral and first visit to PNU/Genetics in days

FAN104 A calculated Time between Referral and first visit to PNU/Genetics in days

Time prenatal PRBC transfusion

D0073 The time that the prenatal (in utero) PRBC transfusion was performed (if there were multiple performed, enter the most recent)

Type of Conception M0201 Method of conception for this pregnancy; indicates if reproductive assistance was required to achieve current pregnancy

Spontaneous Assisted reproductive technology was not used

Intrauterine insemination alone Sperm is instilled directly into the uterine cavity through a syringe and catheter. Can be partner or donor sperm. Referred to as IUI.

Intrauterine insemination with ovulation induction but no IVF

Same as intrauterine insemination (IUI) but woman received drugs to stimulate ovulation prior to the IUI. The woman may produce one or many eggs as the result of the stimulation protocol. Multiple births are a risk with this procedure. Sometimes, an ultrasound is performed prior to the IUI to determine how many follicles have matured and the procedure may not be carried out if many eggs are produced.

Ovulation Induction without IVF ( ie clomid or FSH)

Drugs are given to stimulate ovulation. Normal intercourse, IUI (intrauterine insemination) or vaginal insemination follows but no other manipulation of the egg or sperm.

IVF In Vitro fertilization - Eggs are retrieved from the ovaries through a transvaginal (usually) procedure, guided by ultrasound that shows where the mature follicles are. Eggs are then placed in a sperm solution and fertilization occurs. Fertilized embryos are grown in the lab for a few days (3 or 5) and then a certain number are transferred back into the uterus. The remainder of viable embryos may be frozen for future use.

IVF ICSI In Vitro Fertilization with Intra Cellular Sperm Injection - A single sperm is chosen from the sperm sample and injected directly into the egg for fertilization. The embryo(s) fertilized are then transferred into the uterus as in a regular IVF procedure and/or frozen for future use.

Surrogate A Gestational Carrier. Another women carries the embryo/fetus for the couple who are unable to carry a pregnancy for whatever reason. The baby is surrendered at birth to the fertility patient.

Vaginal insemination

Unknown

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Woman Abuse D0019 The self-disclosed threat of or actual physical, sexual, psychological, emotional or financial abuse.

No disclosure Asked but no abuse disclosed or asked and responded 'No'

Disclosure

Unable to ask Not asked, for any reason. Not documented in the chart.

Zygosity M0200 The nature of the zygotes from which individuals are derived; e.g., whether by separation of the division of one zygote (monozygotic) , in which case they will be genetically identical, or from two separate fertilized ova (dizygotic).

Unknown

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