LADVI, SURAT

This is to certify that the Project entitled, Amniocentesis is a bonafide

work done by Yug K. Palsanawala of class 12 with roll no

____________ in partial fulfilment of CBSE’s AISSCE Examination

2023-24 and has carried out under my direct supervision and guidance.

This report or a similar report on the topic has not been submitted for

any other examination and doesn’t form a part of any other course

undergone by the candidate.

________________________ ______________________
Signature of Internal Examiner Signature of External Examiner
Name: Mr. Devbrath Pandey
Designation : PGT - Biology Name: _____________________

________________________
Principal
Place: _____________ Date: ______________
 ACKNOWLEDGEMENT

I, Yug K. Palsanawala would like to convey my thanks to

Mr. Devbrath Pandey my Biology teacher, who has always given me

valuable suggestions and guidance for the completion of my project. He

helped me to understand and remember important details of the project.

My sincere thanks to my parents, friends and all those who contributed

and encouraged me with necessary guidance on completion my project

successfully.

Date:
Place:

Sign:
 Content

1.
What is amniocentesis?

2.
Who is a candidate for
amniocentesis?
3.
What can be detected through an
amniocentesis?
4. Procedure

5. After procedure

6. Rapid test

7. Full karyotype

8. Result

9. Complications of amniocentesis

10. Conclusion
 What is amniocentesis?

 A procedure performed usually in the beginning of

pregnancy to detect chromosomal abnormalities in the
foetus.
 Usually done when a women 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.
 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.
 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.
 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.
 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 type of tests
o a rapid test
o A full karyotype
 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

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.
 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.
 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 analyse 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 Negative Test result

 If the test result is positive it  For most women who have
means the baby has the amniocentesis, results of the
disorder that was being tested procedure will be negative.
for. One should be aware that That is, there baby will not
there is no cure for the have any disorders that were
majority of chromosomal tested for.
conditions, So she needs to
consider her options
carefully.

 Options may include :  It is possible to have a

1. Continuing with her negative result from
pregnancy while getting amniocentesis but the baby
information and advice may still be born with the
about the condition. So, condition tested for or
she is prepared for another chromosomal
carrying for her baby. condition. This is because a
2. Ending her pregnancy. normal test result doesn’t
3. Options for ending her exclude every chromosomal
pregnancy will depend on disorder.
how many weeks pregnant
she is when making the
decision.
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.

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

 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

procedureout-weigh the risks.
 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=2ahUKEwijqtLClL3
pAhVqwTgGHYJXCNcQ_AUoAXoECBYQAw&biw=1366&bih=
625
4. https://en.wikipedia.org/wiki/Amniocentesis
5. Ncert biology book of class 12th