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2. Aminocentesis
Babar khan
Semister 6th
Bs-microbiology
Chromosomal Abnormalities and Genetic
Counseling

3. Amniocentesis:-
• (also called to as amniotic fluid test).
• It is a medical procedure used in parental
diagnosis of chromosomal abnormalities and fetal
infections.
• and also use for sex determination, in which a
small amount of amniotic fluid , which contains
fetal tissues, is sampaled from the amniotic sac
surrounding a developing fetus,
• and then the fetal DNA is examined for genetic
abnormalities .

4. Amniocentesis :
• The most common reason to have an "amnio" is to
determine whether a fetus has certain genetic
disorders .
• or a chromosomal abnormality, such as down
syndrome.
• This process can be used for o prenatal sex
discernments and hence this procedure has legal
restrictions in some countries.
• Amniocentesis is performed when a woman is
between 14 and 16 weeks gestation.

5. Medical uses:-
Genetic diagnosis
• Early in pregnancy,
amniocentesis is used for
diagnosis of chromosomal
and other fetal problems
such as
• Down syndrome (trisomy
21)
• Trisomy 13
• Trisomy 18
• Fragile X, Rare inherited
metabolic disorders
• Neural tube defect

6. Medicle diagnosis:-
• Lung maturity
• Amniocentesis can predict
fetal lung maturity, which is
inversely correlated to the
risk of infant respiratory
distress syndrome infant.
• In pregnancies of greater
than 30 weeks, the fetal
lung maturity may be
tested by sampling the
amount of surfactant in the
amniotic fluid.
• OTHERS
• Amniocentesis can also be
used to detect problems
such as:
• Infections,
• amniocentesis can detect a
decreased glucose level,
• showing presence of
microbes
• detect differential count of
WBCs.[8]
• Rh incompatibility
.

7. procedure :-
• Before the start of the procedure, a local anesthetic can be
given to the mother in order to relieve the pain felt during
the insertion of the needle used to withdraw the fluid.
• After the local anesthetic is in effect, a needle is usually
inserted through the mother's abdominal wall, then through
the wall of the uterus, and finally into the amniotic sac.
• With the aid of ultrasound-guidance, a physician punctures
the sac in an area away from the fetus and extracts
approximately 20ml of amniotic fluid.
• If used for prenatal genetic diagnosis, fetal cells are
separated from the extracted sample.
• The cells are grown in a culture medium, then fixed
and stained.
• Under a microscope the chromosomes are examined for
abnormalities.
• In regard to the fetus, the puncture seals and the amniotic
sac replenishes the liquid over the next 24–48 hours.

8. Risks:-
• performing this test earlier may result in fetal injury
b/w 11 and 13 week.
• Complications of amniocentesis include
• Preterm labor
• Respiratory distress,
• postural deformities,
• chorioamnionitis.

9. Thank you.