Prenatal Diagnosis

Objectives

Managing the remaining weeks of the pregnancy

Determining the outcome of the pregnancy
Planning for possible complications with the birth
process
Planning for problems that may occur in the
newborn infant
Deciding whether to continue the pregnancy
Finding conditions that may affect future
pregnancy in order to provide reassurance and
reduce anxiety esp among high risk groups

Non Invasive PreND Methods

Presentingnosignificantrisktothehealthof mother
orbaby.
1. Maternalserumalphafetoprotein
2. MaternalserumBHcG
3. Maternalserumestriol
4. Ultrasonography
5. Isolationoffetalcellsfrommaternalblood

1. Maternal Serum Alpha Fetoprotein

(MSAFP)
Adults : albumin
Fetus : albumin + AFP
Conducted at 15 22 weeks gestation
High levels of AFP in maternal blood are
associated with :
- Neural Tube Defects
(anencephaly, spina bifida)
- Abdominal Wall Defects
(gastroschisis,omphalocele)
*MSAFP also increases with gestational age
*The MSAFP tends to be lower when Down syndrome
or other chromosomal abnormalities is present.

2. Maternal Serum B HcG

1st trimester when threatened abortion or ectopic

pregnancy is suspected, the amount of beta-HCG will be
lower than expected
2nd trimester, the beta-HCG can be used in conjunction
with the MSAFP to screen for chromosomal
abnormalities, and Down syndrome in particular.
An elevated beta-HCG coupled with a decreased
MSAFP suggests Down syndrome
Very high levels of HCG suggest trophoblastic disease
(molar pregnancy).
The absence of a fetus on USG along with an elevated
HCG suggests a hydatidiform mole.

3. Maternal Serum Estriol

Made by fetal adrenal glands , excreted by maternal kidney/liver

If the estriol level drops, the fetus is

threatened and delivery may be necessary

emergently
Estriol tends to be lower when Down
syndrome is present and when there is
adrenal hypoplasia with anencephaly.

Triple Test
Interpretation of Results
Foetal
Anomaly
Neural Tube
Defects*
Trisomy
21
Trisomy
18

AFP

hCG

uE

Normal

Normal

Ultrasonography

High resolution, real-time scanning for foetal

assessment and detection of morphological
abnormalities.

determine :

the size and position of the fetus

the size and position of the placenta
the amount of amniotic fluid

the appearance of fetal anatomy

5. Isolation of foetal cells from

maternal blood

Foetal cells are found in the maternal

circulation as well as cell-free DNA.
Difficult to get many fetal blood cells
Not a frequently used detection method

BREAK

Invasive PreND
Routine ultrasound suggests abnormality.
Advanced maternal age, risk of trisomy 21 &
trisomy 18.
Previous affected child with chromosomal
abnormality.
Structural chromosome abnormality in either
parent.
Family history of genetic disorder where DNA or
biochemical test is available.
Family history of an X linked disorder (with no
specific prenatal test).

Associated with RISK to fetus

Invasive PreND
1. Amniocentesis (0.5-1.0% incr. risk of
pregnancy loss)
2. Chorionic villus sampling
3. Cordocentesis - direct sampling of foetal
blood from cord
4. Preimplantation genetic diagnosis - IVF

Amniocentesis
Maternal age of 35 years or more at expected time of delivery
Prior birth of or family history of a child with chromosomal or
genetic disorders
Maternal and paternal carrier status for certain genetic
conditions
Abnormal AFP or triple marker result
Ultrasound finding of a possible abnormality
15 20 weeks gestation
Risk of miscarriage : ~ 0.25 %
Cells isolated used for :
DNA analysis,
biochemical screening
and/or karyotyping.
Fluid also analysed eg. AFP

CVS
Mtrnl age of 35 years or more at expected time of delivery
Fam history with certain chrom or genetic disorders
Maternal or paternal carrier status for certain genetic conditions
USG finding suggesting a higher risk for a chrom abnormality
A desire to obtain accurate test results as early as possible in
pregnancy

10 13 weeks gestation
Risk of miscarriage : ~ 1%

Cordocentesis
direct sampling of fetal blood from
umbilical cord
When USG shows fetal abn
When culture of amnion has failed
When DNA dx is not possible & can be
identified by biochemical tests of fetal
plasma or blood cells

Thank You !!