Amniocentesis is a medical procedure used to diagnose chromosomal abnormalities and fetal infections in which amniotic fluid containing fetal tissues is sampled from the amniotic sac surrounding the fetus. The fetal DNA in the fluid is examined for genetic abnormalities like Down syndrome. It is typically performed between 14-16 weeks of gestation. The procedure involves inserting a needle through the mother's abdomen and uterus under ultrasound guidance to extract a small amount of amniotic fluid. Fetal cells in the fluid are then cultured and the chromosomes analyzed microscopically to check for abnormalities. Risks of the procedure include preterm labor, respiratory distress in the fetus, and infection.

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.