Prenatal screening

and diagnosis of fetal

abnormalities
• Definition:is the identification of a
disease prior to birth. This includes both
the screening and the diagnostic tests
for congenital abnormalities & diseases
of the fetus.
Indications for prenatal diagnosis:
if there is suspicious
 Family history: genetic disease with a known
recurrence risk.
 Past obstetric history: Rh alloimmunization
 Serum screening tests: trisomy 21
 Ultrasound screening: 20 week anomaly scan
 Purposes(aim) of antenatal diagnosis
1-Termination of pregnancy as early as
possible if lethal or severely
handicapping anomalies detected.
• 2-Intrauterine treatment for treatable
conditions
• 3-Planning of delivery for non lethal
conditions (Time, place & mode of
delivery)
• 4-Prepare woman emotionally for the
birth of a baby with a serious condition.
I- Prenatal Screening tests:
• Should be simple, affordable, available,
non-invasive , sensitive & specific.
• initial screening begins when the female
presents first for antenatal care or as
part of pre-conceptional counseling in
pregnancy counseling clinic
• history
• clinical examination (Polyhydramnios,
oligohydramnios)

 Screening tests include:

1-Routine booking tests
2-Screening test for Down’s syndrome.
3-Screening for neural tube defect (MSAFP)
4-Ultrasound screening (CHD ,NTD)
• AFP is a glycoprotein that is produced from the
yolk sac and fetal liver ,excreted into the
amniotic fluid via fetal urine, crosses the
placenta into the maternal circulation
 Conditions causing elevated MSAFP
1- Open neural tube defects such as spina
bifida, anencephaly.
2- Anterior abdominal wall defect (exomphalus )
3- Multiple pregnancy
4- Miscalculated gestational age
Low MSAFP is present in
1-Down’s syndrom
2-IUD
Screening for Down’s syndrom
1-The combined test of an ULS scan to measure
nuchal translucency& blood test for the level of
HCG & PAPP-A in maternal blood between 11-
14w (1st trimester)
2-Triple test of decreased MSAFP, decreased
unconjugated oestriol, increased HCG (2nd trim)
Quadruple test by adding Inhibin-A.
The risk of Down’s syndrom increases with
maternal age (at 30 years incidence is 1/1000 ,
in 40 years it is 1/100 )& the individual risk is
calculated by taking age related risk &adjusting
this up or down based on these tests.
II- Diagnostic tests:
• The need for diagnostic test arise
following a high risk screening test. This
include non-invasive tests & invasive
procedures which may carry some risk ,
but this should be balanced by the
usefulness of the information obtained
by them
Non-invasive tests:
1-ULS scanning for structural fetal abnormalities
e.g. NTD, gastroschisis, cystic adenomatoid
malformation of lung , renal abnormalities.
2- Maternal blood for viral serology if features on
ULS are suggestive of infection e.g. hydrops or
ventriculomegaly or if there is history of exposure
3-Free fetal DNA can be extracted from maternal
blood to determine fetal blood group in cases of
alloimmunization , or determine the sex of fetus in
x-linked disorders ,for karyotyping & DNA study
4- recently diagnostic test for aneuploid by
extracting fetal RNA from maternal blood
Club Foot & Polydactyly
 Invasive techniques
• Amniocentesis:
• Chorionic villus sampling (CVS)
• Fetal blood sampling
 A-Chorionic villus sampling
• Taking a sample of fetal villous trophoblast
cells in 1st trimester (after 10w)
• percutaneous transabdominal by passing a
needle under ULS guide through the
abdomial wall into the placenta
 Chorionic villus sampling
Or by passing a fine catheter or biopsy
forceps into the placenta
• transvaginal
• transcervical
Indications for CVS:-
• 1- karyotyping
• 2-DNA analysis for sinle gene defects as in
thalassaemia and sickle cell anaemia
• 3- inborn error of metabolism
• 4- chorionic tissue examination for
infections such as rubella or toxoplasma

• complications: miscarriage 2% , limb

defects.
B- Amniocentesis :
• Amniotic fluid contains fibroblasts shed
from fetal membranes, skin& fetal
genitourinary tract. this is done by the
trans abdomenal insertion of a needle
using local anesthesia into the amniotic
sac under US guide and aspiration of
amniotic fluid for karyotyping
(aneuploidies) ,cell culture (genetic
disorders) & biochemical studies .
• Indications:
• 1-karyotyping for aneuploidies.
• 2-Genetic disorders & single gene disorders.
• 3-Spectrophotometric tests for hemolytic
disease
• 4-Biochemical tests e.g AFP to detect NTD
• 5-lung maturity
• 6-Tests for viral infections e.g.CMV
• complications: miscarriage 1% , leaking
liquor, fetal distress, amnionitis, , talipes
equinovarus & Rh isoimmunization.
 Types of Amniocentesis
– Late – second trimester after 15 weeks .
– Early – earlier than 15 weeks gestaion.
C- fetal blood sampling
(cordocentesis)
• A needle is passed under ULS guidance
into the umbilical cord at the point of its
insertion into the placenta .
• It can be performed from 20 weeks
gestation & onward.
Indications:
1-karyotyping
2-hemoglobinopathy: thalassaemia and sickle cell
anaemia
3-diagnosis of trans placental infection by
measuring fetal IgM.
4- diagnosis and treatment of Rh incompatibility
5-check fetal platelet count when alloimmune
thrombocytopenia is suspected.

complications: miscarriage(2-5%) , fetal

hemorrhage
 Methods of chromosomal
evaluation
• Non invasive:
– Fetal cells from maternal blood
– preimplantation embryos (PGD)
• Invasive:
– amniotic fluid (amniocentesis)
– placenta (chorionic villus tissue)
– Fetal blood