Prenatal diagnosis Prenatal diagnosis of fetal heart of fetal heart anomaliesanomalies

Ultrasound screeningUltrasound screening

Bogdan M. MuresanBogdan M. Muresan

The incidence of CHD (Congenital Heart The incidence of CHD (Congenital Heart Disease) is around 8 to 9 per 1000 live birthsDisease) is around 8 to 9 per 1000 live births

If all subtle cardiac anomalies are If all subtle cardiac anomalies are counted (bicuspid Ao valve, aneurysm of counted (bicuspid Ao valve, aneurysm of atrial septum and LSVC persistent) may atrial septum and LSVC persistent) may be in order of 50 per 1000 live births.be in order of 50 per 1000 live births.

The suspicion for CHD during a routine The suspicion for CHD during a routine ultrasound is a risk factor with highest ultrasound is a risk factor with highest yield for CHD (40 to 50%)yield for CHD (40 to 50%)

The majority of fetuses with CHD have no known risk The majority of fetuses with CHD have no known risk factors.factors.

SCREENING for CHD to every pregnant women - routine SCREENING for CHD to every pregnant women - routine scan: nuchal scan (12 weeks) and anomalies scan (20-22 scan: nuchal scan (12 weeks) and anomalies scan (20-22 weeks)weeks)

Risk factors for CHDRisk factors for CHD Fetal:Fetal: chromosomal abnormalities, extracardiac anatomic chromosomal abnormalities, extracardiac anatomic

abnormalities, fetal cardiac arrhytmia, suspected cardiac anomaly abnormalities, fetal cardiac arrhytmia, suspected cardiac anomaly on routine ultrasound, thickened nuchal translucency, on routine ultrasound, thickened nuchal translucency, monochorionic placentation;monochorionic placentation;

Maternal:Maternal: family history of CHD, maternal metabolic disorders family history of CHD, maternal metabolic disorders (diabetes, phenylketonuria), maternal teratogen exposure, (diabetes, phenylketonuria), maternal teratogen exposure, pregnancy from assisted reproduction techniques, maternal pregnancy from assisted reproduction techniques, maternal obesityobesity

Alferd Abuhamad, Rabih Chaoui: A Practical Guide to Fetal EchocardiographyAlferd Abuhamad, Rabih Chaoui: A Practical Guide to Fetal Echocardiography

Nuchal scan (11-13WG)Nuchal scan (11-13WG)soft markers for aneuploidies and CHD (in soft markers for aneuploidies and CHD (in

euploid cases):euploid cases):NT NT thickened; TR regurgitation; DV with “a” reversethickened; TR regurgitation; DV with “a” reverse

CASE: 8 weeks pregnancy - CASE: 8 weeks pregnancy - refferal for a “problem”?refferal for a “problem”?

Is here a normal pregnancy ???Is here a normal pregnancy ???

Routine exam at 8 weeks search for: localisation / number of fetus-placenta (intrauterine pregnancy), presence of FHR (normal FHR), embryon adnexa (normal yolk sac)

Is there a possible Is there a possible problem ?problem ?

Embryo anatomy: heart is almost complete Embryo anatomy: heart is almost complete developed; but it is impossible to asses heart developed; but it is impossible to asses heart anatomyanatomy

- - look to heart position in thorax??look to heart position in thorax??

Untill 10-11 weeks there is a normal exomphalos (with bowel contents)

Transverse view of embryo thoraxTransverse view of embryo thorax

““Ectopia cordis” ????Ectopia cordis” ????

http://www.sonoworld.com/TheFetus/page.aspx?id=2687http://www.sonoworld.com/TheFetus/page.aspx?id=2687

Patient was reevaluated at 11 weeks Patient was reevaluated at 11 weeks (nuchal scan)(nuchal scan)

unfortunately CRL < 45 mm (42,2mm)unfortunately CRL < 45 mm (42,2mm)but:……but:……

Normal fetal anatomy at this age

3D image revealed normal fetal anterior 3D image revealed normal fetal anterior wall wall

(there is no place for “ectopia cordis”)(there is no place for “ectopia cordis”)

Nuchal scan Nuchal scan (CRL between 45-84 mm or 11-13 WG)(CRL between 45-84 mm or 11-13 WG)Normal midsagital view – fetal profile (NT, FMF angle, Normal midsagital view – fetal profile (NT, FMF angle,

nasal bone, intracerebral translucency)nasal bone, intracerebral translucency)

Normal fetal anterior wall:Normal fetal anterior wall:umbilical cord insertion and heart localisationumbilical cord insertion and heart localisation

Good result at nuchal scan:Good result at nuchal scan:PAPP-A, freeBetaHCG, NT PAPP-A, freeBetaHCG, NT

Combined risk assessment (risk for Combined risk assessment (risk for chromosomal abnormalities under 1/1000)chromosomal abnormalities under 1/1000)

New soft markers in nuchal scan: nasal bone, New soft markers in nuchal scan: nasal bone, FMF angle, Tricuspid and DV flow (routinely)FMF angle, Tricuspid and DV flow (routinely)

The presence of Tricuspid regurgitation – it is The presence of Tricuspid regurgitation – it is associated with chromosomal abnormalities associated with chromosomal abnormalities and high risk for CHD in euploid fetuses)and high risk for CHD in euploid fetuses)

Possible AVSDPossible AVSD(if it is present - increases T21 risk to ¼ (if it is present - increases T21 risk to ¼

and karyotyping is necessary)and karyotyping is necessary)

After 10 days we performed a After 10 days we performed a fetal echocardiographyfetal echocardiography

AVSD ???AVSD ???

or or Mitral atresia with VSDMitral atresia with VSD

Great vessel outflow Great vessel outflow tract ???tract ???

Outflow Tract:Outflow Tract:- Ao and Pulmonary Trunk have common origin in Right - Ao and Pulmonary Trunk have common origin in Right VentricleVentricle- They are parallel at origin- They are parallel at origin- Pulmonary Trunk smaller than Ao- Pulmonary Trunk smaller than Ao

DORV (VSD included) with DORV (VSD included) with mitral atresia/stenosis (or mitral atresia/stenosis (or

AVSD) and Pulmonary stenosisAVSD) and Pulmonary stenosis (possible ?)(possible ?)

DORV diferential diagnosis: conotrunkal anomalies

Extracardiac anomalies -Extracardiac anomalies - ventriculomegalyventriculomegaly

ManagementManagement

We offer karyotyping We offer karyotyping (CVS or (CVS or amniocentesis) amniocentesis) because it is frequent because it is frequent associated with associated with chromosomal chromosomal abnormalities – abnormalities – T13,18). Poor T13,18). Poor prognosis: prognosis: extracardiac anomaliesextracardiac anomalies

Abnormal karyotype: Abnormal karyotype: we offer TOPwe offer TOP

If karyotype is normal:If karyotype is normal: search for 22q11 search for 22q11

microdeletion (di microdeletion (di George)George)

Cardiologist solution Cardiologist solution (search for real CHD at (search for real CHD at 18-20 weeks and 18-20 weeks and prognosis depends on prognosis depends on possible possible lesions/extracardiac lesions/extracardiac anomaliesanomalies

““Ultrasound anomalies Ultrasound anomalies scan” at any pregnancy scan” at any pregnancy ages ?ages ?

Patient was referred for other reason (in Patient was referred for other reason (in this case)this case)

Look and question for every possible Look and question for every possible anomaliesanomalies

Have always suspicionsHave always suspicions To recognize the limits of ultrasound to To recognize the limits of ultrasound to

asses fetal anatomy at every age of asses fetal anatomy at every age of gestationgestation

Multumesc!Multumesc!Thank you!Thank you!www.medicinafetala.rowww.medicinafetala.ro