Sem VI Amniocentesis

Sem – VI (UG)
CC-13: Developmental Biology

C13T: Unit -5, Implications of Developmental Biology
Prepared by Anindita Das
Amniocentesis
What is Amniocentesis? (Amniotic Fluid Test)

Medical procedure used for prenatal genetic testing for chromosomal
abnormalities (presence or absence of certain chromosomes, genes or
enzymes), fetal infections as well as for sex determination to obtain a
sample of amniotic fluid from a pregnant woman. A long sterile needle
is inserted through the abdominal wall into the amniotic sac to obtain
the fluid.
Amniotic fluid—the substance that fills the amniotic sac and
surrounds the developing fetus—contains fetal cells (e. g. multipotent
mesenchymal, hematopoietic, neural, epithelial, and endothelial stem
cells) that can be used for genetic testing.
Why is an Amniocentesis performed?

This process is performed to look for certain types of birth defects.
Because amniocentesis presents a small risk for both mother and her
baby, the prenatal test is generally offered to women who have a
significant risk for genetic diseases, including those who:
 Have an abnormal ultrasound or abnormal lab screens
 Have a family history of certain birth defects
 Have previously had a child or pregnancy with a birth defect
 Had an abnormal genetic test result in the current pregnancy
Amniocentesis does not detect all birth defects, but it can be used to
detect the following conditions if the parents have a significant
genetic risk of:
 Down syndrome
 Sickle cell disease
 Cystic fibrosis
 Muscular dystrophy
 Tay-Sachs disease
Procedure:
Amniocentesis is routinely performed as an outpatient procedure
either with or without the use of a local anaesthetic.
 Ultrasonography is used to locate the position and movements
of the fetus, location of placenta, and characteristics of the
amniotic fluid in the uterus.
 With the aid of ultrasound guidance, a long, sterile needle is
inserted through the abdominal wall of the uterus at an angle
through the muscle, then through the wall of uterus and finally
into the amniotic sac.
 The physician then punctures the sac in an area away from the
fetus and extracts approximately 20ml of amniotic fluid. This
procedure can be performed with a single needle and double
needle technique. These techniques have their own variations in
how they are performed including guidance of needle insertion
location, and angle of needle insertion.
 From the 20ml of amniotic fluid, the first 2ml is typically
discarded due to mixture with maternal blood cells to ensure
high quality fluid sampling.
 Fetal cells are separated from the amniotic fluid and placed in a
culture medium that stimulates them to grow and divide, then
fixed and stained. Under a microscope, the chromosomes are
examined for abnormalities.
 After the procedure, the puncture seals and the amniotic sac
replenishes the liquid over the next 24-48 hours.
Medical uses:
1) Genetic diagnosis:
Early in pregnancy, amniocentesis is used for diagnosis of
chromosomal and other fetal problems such as:
 Down syndrome (Trisomy 21)
 Patau syndrome (Trisomy 13)
 Edwards’ syndrome (Trisomy 18)
 Sex chromosome aneuploidies
 Neural tube defects (diseases where the brain and
spinal column don’t develop properly) – anencephaly (a
baby born with an underdeveloped brain and an
incomplete skull) and spina bifida/split spine (a birth
defect in which there is incomplete closing of the spine
and the membranes around the spinal cord during early
development), by alpha-fetoprotein levels
 Rare metabolic disorders
2) Infection:
This process can detect infections via decreased glucose level,
a Gram stain showing bacteria, or abnormal differential count
of WBCs.
3) Lung maturity:
This can predict fetal lung maturity, which is inversely
correlated to the risk of infant respiratory distress syndrome.
Several tests are available, including the-
 Lecithin-sphingomyelin ratio (L/S ratio): if the result is
less than 2:1, the fetal lungs may be surfactant
deficient.
 The presence of phosphatidylglycerol (PG): indicates
fetal lung maturity.
 The surfactant/albumin ratio (S/A ratio): the result is
given as mg of surfactant per gm of protein. An S/A ratio
<35 indicates immature lungs, 35-55 is intermediate,
and >55 is mature surfactant production.
Note: Lungs require surfactant, a soap-like substance, to lower the
surface pressure of the alveoli in the lungs. This is especially important
for premature babies trying to expand their lungs after birth.
Surfactant is a mixture of lipids, proteins, and glycoproteins; lecithin
and sphingomyelin being two of them. Lecithin makes the surfactant
mixture more effective.
Higher amounts of lecithin – in reference to albumin – is indicative of
lung maturity (and thus survival of the neonate).
4) Decompression of polyhydramnios:
Polyhydramnios (the accumulation of amniotic fluids) can be
relieved via decompression amniocentesis. Amniocentesis
can also be used to diagnose potential causes of
polyhydramnios.
5) Rh incompatibility:
This process can be used to diagnose Rh incompatibility, a
condition when the mother has Rh-negative blood and the
fetus has Rh-positive blood. Early detection is important to
treat the mother with Rh immunoglobulin and to treat her
baby for haemolytic anemia.
Risks:
Amniocentesis is performed between the 15th and 20th week of
pregnancy; performing this test earlier may result in fetal injury. The
term “early amniocentesis” is sometimes used to describe use of the
process between weeks 11 and 13.
Complications of amniocentesis include preterm labor and delivery,
respiratory distress, postural deformities, chorioamnionitis or intra-
amniotic infection (an inflammation of the fetal membranes – amnion
and chorion, due to a bacterial infection), fetal trauma and
alloimmunisation or rhesus disease (an immune response to foreign
antigens after exposure to genetically different cells or tissues) of the
mother. Amniotic fluid embolism or AFE (a very uncommon childbirth
emergency in which amniotic fluid enters the blood stream of the
mother to trigger a serious reaction and results in cardiorespiratory
collapse and massive bleeding) has also been described as a possible
outcome. Additional risks include amniotic fluid leakage and bleeding.
These two are of particular importance because they can lead to
spontaneous abortion in pregnant patient.
 The first amniotic stem cells bank in the US is active in Boston,
Massachusetts.

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Sem – VI (UG)

CC-13: Developmental Biology

What is Amniocentesis? (Amniotic Fluid Test)

Why is an Amniocentesis performed?

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