PRESENTED BY:

SUSHREE SIPRA PAIKRAY GUIDED BY:

ROLL.NO-BS-16-375
AUROBINDA DAS
EXAM ROLL.NO-31916017
 Amniocentesis is a medical procedure used in prenatal diagnosis of
chromosomal abnormalities & foetal infection & also for sex
determination .
 The most common reason to have an "amnio" is to determine
whether a baby has certain genetic disorders or a chromosomal
abnormality, such as Down syndrome.
 It is performed when a woman is between 14 and 16 weeks
gestation.
 Women who choose to have the test, carries a small risk of
 Several researchers worked on the development of amniocentesis for fetal sex
determination in the 1950s[4].
 Between 1959 - 1967 Robert Lisle Gadd developed the new technique of amniocentesis
for clinical assessment of fetal wellbeing in utero. He presented his results at the
William Blair-Bell Memorial Lecture at the RCOG in London in 1965 and was awarded
an MD from the University of Manchester for this work.[5] He also described
amniocentesis techniques, as well as other details about amniotic fluid in the chapter
'The Liquor Amnii' in the 1970 and 1977 editions of Scientific Foundations of
Obstetrics and Gynaecology.
 Up to mid 1970s amniocentesis procedures were done 'blind‘. Doctors Jens Bang and
Allen Northeved from Denmark were the first to report amniocentesis done with the
guide of an ultrasound in 1972. Chorionic Villus Sampling (CVS) was first performed
 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.
 a needle is usually inserted through the mother's abdominal wall, then through the
wall of the uterus, and finally into the amniotic sac.
 a physician punctures the sac in an area away from the fetus and extracts
approximately 20ml of amniotic fluid.
 The foetal cells are separated from extracted sample .the cells are grown in a culture
medium, then fixed & stained.
 Under a microscope the chromosomes are examined for abnormalities. the puncture
seals and the amniotic sac refilled the liquid over the next 24–48 hours.
 Advanced to rest for 24 hours.
 No strenuous work, exercise for 72hours.
 No air travel for 72hours.
 Seek urgent medical attention if-
1. feeling shivery.
2. high fever of 38degree celcius or above.
 After the amniocentesis procedure, the sample of amniotic fluid will be taken to a laboratory for
testing.
 There are 2 different types of test-
1.A rapid test
2.A full karyotype
A rapid test looks for abnormalities on specific
chromosome(the parts of the body’s cell that carry genes).
A rapid test can identify a number of chromosomal
conditions that cause physical & mental abnormalities. &
these are –
 down’s syndrome – which is caused by an extra chromosome
21.
 Edward’s syndrome – which is caused by an extra
chromosome 18.
Each cell in the body contain 23pairs of chromosomes.
A full karyotype checks all of these.
The cells in the sample of amniotic fluid are grown for
up to 10days in a laboratory before being examined
under a microscope to check for
The number of chromosomes
The appearance of the chromosomes
 Afteramniocentesis, the sample of amniotic fluid is sent to a lab for
analysis.
 Results usually take 10days to 3weeks, depending on the lab.
 Ittakes a that long to get results because the cells have to grow in the
lab in order to analyze them.
 In the lab, genetic & chemical tests are done.
 For genetic tests, certain chromosomes & genes are analysed.
 For chemical tests, proteins, minerals & other compounds in the amniotic
fluid are analysed.
Amniocentesis Results Will Either Be Positive Or Negative
Negative Test Results
 For most women who
have amniocentesis,
results of the
procedure will be
negative. That is their
baby will not have any
disorders that were
tested for.
POSITIVE RESULTS
 If the test results is
positive it means the
baby has the disorder
that was being tested
for.one should be aware
that there is no cure for
the majority of
chromosomal conditions,
so she needs to consider
her options carefully
 There is a small risk that amniocentesis can cause a miscarriage(the loss of the
Miscarriage
pregnancy).this risk is estimated to be around 1 in 100

Amniocentesis may cause club foot in your baby. this is when the baby is born
Club foot with a deformed ankle & foot. However ,the likelihood of this happening is higher
if you have amniocentesis before week 15 of your pregnancy.

Rhesus disease is a condition where proteins in a pregnant women’s blood attack

Rhesus Disease her baby’s blood cells. Rhesus disease is only possible if the mother’s blood is
rhesus negative & the baby’s blood is rhesus positive.
Ithas social drawbacks as technology changes the way
people think about disability & kinship.
Amniocentesis after a window of control & providing
responsibility to make rational decision about complex
emotional& culturally contingent issues.
Amniocentesis is a safe procedure that can provide helpful
information about the health of fetus.
It may be offered to women who are at a higher risk of
having baby with a genetic disease.
The risk of miscarriage of amniocentesis is about 0.5% or 1
in 200.
It is the patients decision whether the benefits of the
procedure out weigh the risks.