l05a - antenatal.prenatal

8/3/2019 L05a - Antenatal.prenatal

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Alida HarahapDept. Clinical pathology

FMUI


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PREGNANCY

Mother Baby

Infectious deseases Inherited deseases Congenital anomalies Others


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Molecular Diagnosisin Inherited Diseases

DNA Mutation

Nuclear Mitochondrial


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Prenatal Diagnosis

Severe childhood onset diseaseswith a poor prognosis

and no effective treatment

Specimens:

peripheral blood/cord blood lymphocytes villi choriales amniotic fluid

circulating nucleic acid


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Hemoglobinopathy

Hemoglobin variant Thalassemiaa & b


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Time limitation:

Carrier detection in pregnancy

Prenatal diagnosis

(Examples)

a-thalassemia


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Hematologic test parameters:

Hemoglobin Hematocrite

RBC count

Leukocyte count

Diff. count

Platelets


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ANEMIA IN PREGNANCY

Iron deficiency

Hemoglobinopathy

Red Blood Cell Indicesand blood smear examination


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RBC Abnormalities

Hemoglobin Membran Enzim

Main symptom Anemia


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LABORATORY TESTS

CBC (complete blood count)= FBC full blood count RBC morphologyblood smear Reticulocyte count Hb analysis Iron status Membran analysis

Osmotic fragility Enzim G6PD Etc bone marrow, sugar water test,

Coombs test, etc


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Hb concentration

RBC count

Red cell indicesMean Cell Volume: (10 x Ht/E) flMean Cell Hemoglobin: (10 x Hb/E) pg

Mean Cell Hemoglobin Concentration(100 x Hb/Ht) %

RDW (red cell distribution width)

CBC (complete blood count)= FBC full blood count:


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RDW

SD

CV

DD:Iron defficeiency: Thalassemia: N

Makrositosis lain: N

Anemia megaloblastik:


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Pengaruh penyimpanan:

Parameters Roomtemp

Refrigerator

RBC count 12 hrs 24 hrs

Hb 24 hrs 24 hrsHt 6 hrs 24 hrs

MCV 6 hrs 24 hrs

MCH 12 hrs 24 hrsMCHC 12 hrs 24 hrs

RDW 20 hrs 24 hrs


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Hemoglobinopathy

Hemoglobin variant Thalassemiaa & b


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Heme

Adult hemoglobin

a b

HbA (a2b2) 98%HbA2 (a22) 2.5-3.5%HbF (a22)


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Adult hemoglobin

a b

HbA (a2b2) 98%

HbA2 (a22) 2.5-3.5%HbF (a22)


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Normal

Thalassemiaminor

Thalassemiamajor

Globin Genemutation

Alteration of:mRNA transcription

splicingtranslation

Hb stability

ThalassemiaHemoglobinopathy


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CBC

MCV 76 fl

or MCH 26 pg

MCV 76 fl

or MCH 26 pg

Hb Hb normal

Iron status

low normalor high

HbA2

< 3.6% 3.6-8.0% >8.0%

probablenormal

irondefficiency putativea-thal. b-thal.trait structuralvariant?


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LABORATORY TESTS

FOR INFECTIOUS DESEASESIn PREGNANCY

Toxoplasmosis Rubella

Sexual Transmitted deseases* Syphilis* HIV

Hepatitis B


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LABORATORY TESTFOR CONGENITAL ANOMALIES

Chromosome analysys Karyotyping


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CHROMOSOME ANALYSIS

Karyotyping banding technique

- metaphasequantity structural

FISH(Fluorescent in situ hybridization)

- interphasequantity

Chromosome Painting


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TRISOMY

Trisomy Syndrome

21 Down

13 Patau

18 Edward

16 Early abortion

XXY Klinefelter


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MONOSOMY

Monosomy Syndrome

X Turner

autosome Letal


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OTHERS

Blood glucose diabetes mellitusABO and Rh blood group

l05a - antenatal.prenatal

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