PRENATAL

DIAGNOSIS &
ESTIMATION OF
FOETAL AGE

Dr. MRITUNJAY
The goal of prenatal diagnosis is not
to generate perfect babies.

“There are no perfect human

specimens - we are all genetically
flawed in some way.”
The goal of prenatal diagnosis is to help
parents learn what they need to know about
the health of their unborn child to help them
make informed decisions for themselves and
their family within the context of their own
value system
 OBJECTIVES
 At the end of the session, Phase-I students
should be able to:
 Describe the diagnosis of pregnancy in first
trimester and role of teratogens, alpha-
fetoprotein

 Describe the role of Alpha-fetoprotein

 Explain embryological basis of estimation of

fetal age.
 OBJECTIVES
 At the end of the session, Phase-I students
must be able to:
 Describe various methods of prenatal
diagnosis

 Describe indications, process and

disadvantages of amniocentesis

 Describe indications, process and

disadvantages of chorion villus biopsy
 PRENATAL
DIAGNOSIS
 Using a wide variety of screening and
diagnostic tests to assess health of a fetus
to:
 Manage the pregnancy
 Determine potential outcomes
 Plan for complications at birth
 Decide whether to continue the pregnancy
 Discover conditions that may impact future
 PRENATAL DIAGNOSIS- For
Whom?
 Individuals in populations at increased risk
of a genetic disease:
– Tay-Sachs: Ashkenazi Jews, French
Canadians
– Sickle cell anemia: Africans,
Mediterraneans, Arabs, Turks, Indo-
Pakistanis
– Thalassemias: Mediterraneans, Arabs,
Turks, Indo-Pakistanis, Southern and
Southeast Asians
 PRENATAL DIAGNOSIS- For
Whom?
• Older women (>35 years) at increased risk of
chromosome disorders
• Family history of a genetic
disease/chromosome disorder
• Maternal disease associated with increased
risk of birth defects (diabetes,
phenylketonuria)
• Known teratogen exposure during pregnancy
• Abnormal screening tests or ultrasounds
 PRENATAL DIAGNOSIS
TECHNIQUES
• Visualization of the fetus

– Ultrasound - 2D, 3D and 4D (more useful

for assessment of foetal well being and
gestational age.)

– Others (very special circumstances -X-ray,

fetoscopy)
 PRENATAL DIAGNOSIS
TECHNIQUES
• Maternal Serum Screening Tests
– Double marker (PAPPA & beta-HCG)

– Triple test (alpha-fetoprotein, beta-HCG,

and Unconjugated estriol) for neural tube
defects and chromosome trisomies.

– Quadruple test (alpha-fetoprotein, beta-

HCG, Unconjugated estriol and Inhibin-A)
 PRENATAL DIAGNOSIS
TECHNIQUES
• Genetic and biochemical studies of
fetal cells
– Amniocentesis

– Chorionic villus sampling

– Fetal blood sample (percutaneous

umbilical sample)

– Circulating fetal cells in maternal blood

 ULTRASONOGRAPH
Y
• Non-invasive - no known risks to mother or
fetus
• Assess fetal proportions, sex, position, growth;
placenta, amniotic fluid
• Accurately estimate fetal age
• At 6 weeks can see developing embryo
• Between 16-20 weeks gestation is optimal
time to screen for congenital anomalies for
Gastroschisis
 ULTRASONOGRAPH
Y
• Conditions, which can be detected by
USG
• Neural tube defects
• Body wall defects
• Major organ abnormalities
• Oligo- or polyhydramnios
• Major limb abnormalities
 ADDITIONAL USG
MARKERS
 Nuchal translucency: maximum thickness of

subcutaneous translucent area between the

skin and soft tissue overlying the fetal spine at

the back of the neck, detects 2/3rd of fetuses

with downs syndrome.

 Absence of nasal bone

 TRIPLE TEST
 Maternal serum alpha fetoprotein
(MSAFP) is produced by yolk sac and
liver.

 Beta-HCG is Produced by trophoblasts

during early pregnancy.

 Oestriol is a female steroid hormone.

 AFP

level

HCG

gestational age
Disorder AFP hGC hCG/AFP ratio

Trisomy 21

Trisomy 18

Anencephaly N

Spina Bifida N

Twins N

Fetal death N
 ALPHA-
FETOPROTEIN
 Highest level in foetal serum & amniotic fluid
is reached around 13 weeks, thereafter it
decreases.

 Maternal serum level reaches a peak around

32 weeks.

 Maternal serum AFP level is increased in

open neural tube defects, IUFD, Multiple
 AMNIOCENTESIS
 Invasive technique to obtain fetal cells.

 Amniotic fluid is aspirated from the amniotic

cavity to study chromosomes, DNA, or bio-

chemical profile of fetus for diagnostic

purposes.

 Most often preformed between 15 and 20

 AMNIOCENTESIS
 Indications:

 Diagnosis of fetal genetic disorders

 Congenital infections

 Alloimmunization

 Assessment of fetal lung maturity(late

 AMNIOCENTESIS
 Process:
 Approach via mother’s abdomen under
ultrasound guidance

 20-22 G spinal needle is used under USG

guidance, standard needle is 9 cm long.

 20 to 30 ml of fluid should be collected for

fetal CMA or karyotyping.
 AMNIOCENTESIS
 Disadvantages:
– Fetal loss- <0.5% higher than normally
expected

– Trauma (Needle injuries to fetus) and

infection

– Risk of club foot reported when done < 13

weeks.
 CHORIONIC VILLOUS
SAMPLING
• Invasive technique to obtain fetal cells, can
be done by trans-abdominal or trans-
cervical route.

• Study chromosomes, DNA, or biochemical

profile of fetus.

• Most often performed between 10-13

weeks gestation, but as early as 9 weeks
Process of CVS:
18 to 20 gauge spinal
neddle is inserted
into chorion
frondosum followed
by aspiration of villi
into media containing
syringe
 CHORIONIC VILLOUS
SAMPLING
• Disadvantages:
– fetal loss rate slightly higher than
amniocentesis, about 1%

– Very slight risk of increased limb

abnormalities if done < 10 weeks

– risk of infection
 ESTIMATION OF FETAL
AGE
 First trimester: (first 12 weeks) Fetal viability
& gestational age can be determined by
detecting following structures by TVS:
 Gestational sac & yolk sac by 5 menstrual weeks
 Foetal pole & cardiac activity by 6weeks.
 Embryonic movements by 7 weeks.
 Best determined by measuring the CRL between
7th-12th weeks (5 mm at 32nd day)
ESTIMATION OF FETAL
AGE
 Second trimester: (13-28 weeks)
 Routine sonography at 18-20 weeks permits
a detailed survey of foetal anatomy,
placental localization and the integrity of
cervical canal.

 Gestational age is determined by measuring

the Bi-parietal diameter, head circumference,
ESTIMATION OF FETAL
AGE
 Third trimester:(29-40 weeks)

 Gestational age estimation by BPD, AC,

HC and FL is less accurate (+/- 3 Weeks).

 Fetal growth assessment can be made

provided accurate dating scan has been
done in first or second trimester.