PRENATAL DIAGNOSIS

LEARNING OBJECTIVES
At the end of the lecture the student should
be able to:
Know the details of prenatal diagnosis
Identify the types of prenatal diagnosis.
Differentiate between amniocentesis,
chorion villus sampling, cordocentesis,
ultrasonography, maternal AFP levels.
Learn the indications and goal of prenatal
diagnosis
INTRODUCTION
Until the recent past, couples at high risk of
genetic disorder have the choose of:
- taking the risk
- considering other
reproductive options (long term contraception,
sterilisation, termination of pregnancy or even
adoption and artificial insemination (AID))
Until the 1966 when the relation of advanced
maternal age and increase rate of Down
syndrome was noticed and the prenatal
diagnosis was developed
 3-5%of babies have a major
defect or mental retardation.
Congenital abnormalities
account for 20-25% of perinatal
deaths.
Prenatal diagnosis
Prenatal diagnosis
or prenatal
screening is testing
for diseases or
conditions in a fetus
or embryo before it is
born.
 GOALS OF PRENATAL
DIAGNOSIS
The purpose of prenatal
diagnosis is not simply to detect
abnormalities in fetal life and
allow termination. It rather has
the following goals:

(1) Enables timely medical or

surgical treatment of a condition
before or after birth

(2) Give the parents the chance

to abort a fetus with the
diagnosed condition.
GOALS OF PRENATAL
DIAGNOSIS
(3) Give parents the
chance to
"prepare" psychologically,
socially, financially, and
medically for a baby with
a health problem or
disability, or for the
likelihood of a stillbirth.
 PRENATAL TREATMENT
It also enable prenatal treatment of the affected
foetus.
E.g.,
Treatment of the autosomal recessive disorder -
Congenital adrenal hyperplasia (CAH).
Affected female are borne with virilisation of the
external genitalia.
There is an evidence that this can be prevented by
powerful steroid therapy at early gestational age.
 INDICATIONS FOR PRENATAL
DIAGNOSIS
Maternal age > 35
Repetitive first trimester
abortions.
Previous child with a birth
defect.
Familial genetic disease.
Family history of a neural
tube defect
Women pregnant with type-1
DM. High BP, Epilepsy,
Asthma
Exposed to excessive
medication, viral infections,
environmental hazards.
History of parental
consanguinity
 METHODS OF PRENATAL
DIAGNOSIS
Invasive:
Amniocentesis
Chorionic villus
sampling
Cordocentesis
Pre-implatation
genetic diagnosis
Fetoscopy
METHODS OF PRENATAL
DIAGNOSIS
Non-invasive
testing:
Maternal serum
AFP
Maternal serum
screen
Ultrasonography
INVASIVE METHODS OF PRENATAL
DIAGNOSIS
AMNIOCENTESIS
It is a medical procedure
used in prenatal diagnosis of
chromosomal abnormalities.
A small amount of amniotic
fluid(10-20ml), which
contains fetal tissues, is
extracted, under ultrasound
guidance, surrounding a
developing fetus, and the
fetal DNA is examined for
genetic abnormalities.
Done around the 16 weeks
of gestation.
 INDICATIONS

Down syndrome.
Edward
syndrome
Turner syndrome.
Infection
Decompression
of
polyhydramnios.
 CHORION VILLUS SAMPLING

Enables diagnosis in first

trimester (10-11 week of
gestation).
Under ultrasound guidance
By transcervical or
transabdominal approach.
Aspiration of chorionic villi.
(These are fetal cells
derived from the outer layer
of trophoblast).
CHORION VILLUS SAMPLING
Results can be obtained
in 1 to 3 days, so a
diagnosis in first trimester
in addition that villi
provide a rich source of
DNA.
Disadvantage is in higher
risk of abortion (2-3%)
and limb abnormalities if
carried before the 9
weeks of gestation.
 DRAW BACKS OF CVS
Cells from the mother can be
mixed with the placental cells
obtained from the CVS
procedure.
This phenomenon is called
Maternal Cell Contamination
(MCC).
CVS can not detect all birth
defects. It's used for testing
chromosomal abnormalities or
other specific genetic
disorders only if there is family
history or other reason to test.
Neural tube defects and other
structural malformations
cannot be detected.
CORDOCENTESIS

Visualisation of the
umbilical vessels by
transabdominal
ultrasound and
enabling fetal blood
sampling.
It is usually used in
the management of
Rhesus
isoimmunization.
 MATERNAL SERUM AFP
Mostly done around the16
weeks of gestation.
More specific for the diagnosis
of NTD (95% of NTD can occur
with out a history)
Amniocentesis was used to
confirm the diagnosis but with a
good detailed ultrasound first
and second degree can be
diagnosed
It has been found that by
periconceptual supplementation
with folic acid decrease the rate
of occurrence of NTD and other
abnormalities.
 MATERNAL SCREENING TEST
It is now a standard
practice to offer screening
for Neural Tube Defects,
Downs syndrome and
Edward syndrome
Using a blood sample
obtained from the mother
at the 16 (15-20) weeks
of gestation
It can diagnose up to
75% of NTD and 60-70%
of Downs syndrome.
 ULTRASONOGRAPHY
It offers a valuable means for
prenatal diagnosis
It is used for obstetric diagnosis
as placental localisation and
multiple pregnancy. As well as for
prenatal diagnosis of structural
abnormalities which are not
associated with known
chromosome, biochemical, or
molecular defects.
It is a non invasive with no risk to
the foetus or mother
A specialised expensive
equipment and a skilled
experienced operator are
needed
 ADVANTAGES OF
ULTRASONOGRAPHY
Gestational age can be
calculated.
Sex determination can be
done
Detailed fetal anomaly
scanning is offered to all
pregnant women around the
18 weeks of gest. as a
screening procedure for
structural anomalies (NTD
and cardiac anomalies)
It can identify features which
suggest underlying
chromosomal abnormality
indicating amniocentesis.
THANK YOU