EURO SCHOOL NORTH

CAMPUS

2022-2023

BIOLOGY INVESTIGATORY PROJECT

TOPIC- Amniocentesis

NAME-PRAKYATH I M

CLASS-XII A

ROLL NO- 11

SUBMITTED TO- MS
DEEPA

1
 CERTIFICATE

THIS IS TO CERTIFY THAT THIS

INVESTIGATORY PROJECT ON THE TOPIC
"Amniocentesis" IS THE BONA FIDE WORK OF
PRAKYATH I M OF CLASS-XII ROLL NO: - 11
COMPLETED IN THE SESSION (2022-2023)

ACCORDING TO THE NORMS PRESCRIBED

BY THE CBSE.

VISITING EXAMINER

2
 ACKNOWLEDGEMENT

I have taken sincere efforts in this project however

it would not have been possible without the kind
support and help of many individuals.
I would like to thank my school for providing me
with facilities required to do my project.
I am highly indebted to Ms. Deepa for their
valuable guidance which has sustained my efforts in
all the stages of my project.
My thanks and appreciations to my fellow
classmates for their support as well.

3
 Content

1.
What is amniocentesis? 5
Who is a candidate for
2. 6
amniocentesis?
What can be detected through an
3. 7
amniocentesis?
4. Procedure 8
5. After procedure 9
6. Rapid test 10
7. Full karyotype 12
8. Result 14
9. Complications of amniocentesis 16
10. Conclusion 19
12. Bibliography 20

4
 What is amniocentesis?

• A procedure performed usually in the beginning of

pregnancy to detect chromosomal abnormalities in the
foetus.
• Usually done when a woman is between 16 to 22
weeks of pregnancy.
• During this procedure a sample of amniotic fluid is
taken from the amnion sac (amnion) surrounding the
unborn baby and its DNA is examined for genetic
abnormalities.
• The amniotic fluid- has skin cells of the developing
body, as well as his/her waste products like urine. Each
cell from the baby in fluid contains their complete set
of DNA (genetic information). Analyzing these cells
helps the doctors access the foetus health and detects
any potential problems.
• The entire amniocentesis appointment lasts
approximately 45 minutes –most of which involves a
detailed ultra sound examination.

5
 Who is candidate for amniocentesis?
• Any pregnant woman who, at her due date will be 40
years of age or older.
• Any women whose combitest results are high risk
(blood tests and/ or foetal ultrasound).
• Any women whose ultrasound results indicate a
potential foetal chromosomal abnormally.
• Any woman who has family history or whose partner
has a family history of one or more incidents of
chromosomal anomalies or genetic disorders with a
high recurrence risk.
• It is also possible for women under the age of 40, with
no history of genetic disorder to have an
amniocentesis; it is a matter of personal choice.

6
 What can be detected through an amniocentesis?
• Nearly all chromosome disorder, including Down’s
syndrome as well as sex chromosome abnormalities.
• Several hundred genetic disorders, such as cystic
fibrosis and sickle cell disease. The test is not used to
look for all of them, but if your baby is at increased
risk for one or more of these disorders, in most cases
amniocentesis can usually tell you whether he/she has
the disease.
• Neural tube defects such as spina bifida.

• Amniocentesis is the only way to obtain

information about fetal lung maturity.
Amniocentesis is occasionally used late in pregnancy
to assess whether the baby’s lungs are mature enough
for the baby to breathe on his own.
7
 PROCEDURE

1. An ultrasound is used as a guide to determine a

safe location for the needle to insert through the
abdominal wall to enter the amniotic sac. So, the
fluid may be safely removed.
2. A sample of amniotic fluid is collected through the
needle. The procedure takes about 45 minutes,
although the collection of fluid takes less than five
minutes.
3. The amniotic fluid, which contains cells shed by
the foetus, is sent to the laboratory for analysis.

8
 After procedure
• Advised to rest for 24 hours
• No strenuous work or exercise for 72 hours
• No air travel for 72 hours
• Seek urgent medical attention if-
o Feeling shivery
o High fever of 38 degree Celsius or above
o Persistent lower back pain and abdominal pain
• After the amniocentesis procedure, the sample of
amniotic fluid (the fluid that surrounds the unborn
baby in the womb) will be taken to a laboratory for
testing.
• There are two different types of tests
o a rapid test
o A full karyotype

9
 Rapid Test
• A rapid test looks for abnormalities on specific
chromosomes (the parts of the body’s cells that
carry genes). We can get its reports within24-48
hours. A rapid test can identify a number of
chromosomal conditions that cause physical and
mental abnormalities. These are:
o Down’s syndrome- symptoms are as follows
1. Flat facial features.

2. Small head and ears.

3. Short neck.

4. Bulging tongue.

5. Eyes that slant upward.

6. Atypically shaped ears.

7. Poor muscle tone.

o Edward’s syndrome-- symptoms are as follows

1. Physical Abnormalities. Such as small and
abnormally shaped head, abnormally small
jaw and mouth, overlapping fingers and
underdeveloped fingernails. Scrunched fists.
Low-set ears. ...
2. Heart problems.
3. Developmental disorders.

o Patau’s syndrome-- symptoms are as follows

10
 1. cleft lip and palate.
2. an abnormally small eye or eyes
(microphthalmia)
3. absence of 1 or both eyes (anophthalmia)
4. reduced distance between the eyes
(hypotelorism)
5. problems with the development of the nasal
passages.

• The results of a rapid test should be ready after three

working days. This test is almost 100% accurate, but
its only tests for the three conditions listed above.

11
 Full Karyotype
• Each cell in the body contains 23 pairs of
chromosomes. A full karyotype checks all of these.
• The cells in the sample of amniotic fluid are grown
for up to 10 days. In a laboratory before being
examined under a microscope to check for:
o The no. Of chromosomes
o The appearance of chromosome
• Results from full karyotype will usually be ready in 2
or 3 weeks. In about 1 in every 100 tests, the results
may not be clear. This could be due to the mother’s
blood contaminating the sample of amniotic fluid,
which may have prevented cells from growing
properly.

12
Down’s syndrome Edward’s syndrome
Patau’s syndrome

13
 Result
• After amniocentesis, the sample of amniotic fluid is
sent to a lab for analysis.
• Results usually take 10 days to three weeks
depending on the lab
• It takes that long to get result because the cells have
to grow in the lab in order to analyses them.
• In the lab, genetic and chemical test are done.
• For genetic tests, proteins, minerals and other
compounds in the amniotic fluid are analysed.
• Amniocentesis results will either be positive or
negative.
POSITIVE TEST RESULT:
• If the test result 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.
• Options may include:
1. Continuing with her pregnancy while getting
information and advice about the condition. So, she
is prepared for carrying for her baby.
2. Ending her pregnancy.
3. Options for ending her pregnancy will depend on
how many weeks pregnant she is when making the
decision.
14
NEGATIVE TEST RESULT:
• For most women who have amniocentesis, results of
the procedure will be negative. That is, there baby will
not have any disorders that were tested for.
• It is possible to have a negative result from
amniocentesis but the baby may still be born with the
condition tested for or another chromosomal
condition. This is because a normal test result doesn’t
exclude every chromosomal disorder.

15
 Complications of amniocentesis:

• It is important to be aware of the possible

complications during or after amniocentesis. These
are outlined below:
Miscarriage:
o There is a small risk that amniocentesis can
cause a miscarriage (the loss of the pregnancy).
The risk is estimated to be around 1 in 100.
Club foot:
o Amniocentesis may cause club foot in baby.
This is when the baby is born with a deformed
ankle and foot. However, the likely hood of this
happening is higher if you have amniocentesis
before week 15 of pregnancy.
Rhesus Disease:
o Rhesus disease is a condition where proteins in
a pregnant woman’s blood attack her baby’s
blood cells.
o Rhesus disease is only possible if the mother’s
blood is Rh-negative and the baby’s blood is
Rh-positive. If this is the case, amniocentesis
could trigger RH disease if the mother’s blood
is exposed to the baby’s blood during the
procedure.

16
Injury from needle:
o During amniocentesis, the placenta (the organ
that links a mother ‘s blood to the baby’s blood)
may be punctured by the needle. Sometimes this
is necessary to access the amniotic fluid. If this
happens, the puncture wound usually heals
without any problems developing.
o Ultrasound (where high frequency sound waves
are used to create images) is now commonly
used to guide the needle. This significantly
reduces the risk of injury from the needle.
Infection:
o In very rare cases, an infection may develop if
the procedure introduces bacteria in the
amniotic sac (the sac surrounding the foetus that
contains amniotic fluids). This can cause:
▪ A high temperature (fever) of 38-39 degree
Celsius or above
▪ Tenderness of abdomen (tummy)
▪ Contractions (when your abdomen tightens
then relaxes).
▪ One should seek medical attention if she
has any of these symptoms. The risk of
developing a serious infection from
amniocentesis is estimated to be less than 1
in 1000.
17
There is a stationery ban on amniocentesis in India due
to various reasons. One of the main reasons being
abortion, depending on the sex of the child.

18
 Conclusion

Amniocentesis is a safe procedure that can provide

helpful information about the health of foetus. It
may be offered to be a woman who is at high risk of
having a baby with a genetic disease. The risk of
miscarriage of amniocentesis is about 0.5% or 1 in
200.

It is the patient’s decision whether the benefits of

procedure out-weigh the risks.

19
 BIBLIOGRAPHY
1. https://www.mayoclinic.org/tests-
procedures/amniocentesis/about/pac-20392914
2. https://americanpregnancy.org/prenatal-
testing/amniocentesis/
3. https://www.google.com/search?q=amniocentesis&
rlz=1C1CHBD_enIN894IN894&hl=en-
US&source=lnms&tbm=isch&sa=X&ved=2ahUK
EwijqtLClL3pAhVqwTgGHYJXCNcQ_AUoAXo
ECBYQAw&biw=1366&bih=625
4. https://en.wikipedia.org/wiki/Amniocentesis
5. NCERT textbook

20