1. NAME- SK RUHULLAH
BRANCH-M.Sc. ZOOLOGY
STREAM-1ST YEAR
SCHOOL OF APPLIED SCIENCES
REGD.NO-220705180032
TOPIC-GENETIC COUNSELLING AND AMNIOCENTESIS
Under the Guidance of,
Dr. Gagan Kumar Panigrahi
2. o Genetic counselling
Definition
Description
Time for genetic counselling
Importance
Techniques
o Amniocentesis
Definition
Description
Procedure
Importance
Complication/problems
o References
o Acknowledgement
CONTENTS
4. DEFINITION
The guidance relating to genetic disorders that a specialized
healthcare professional (genetic counselor) provides to an individual
or family is known as genetic counselling.(Levy B, Wapner R (2018)
DESCRIPTION
Genetics counselors are health care professionals with specialized
graduate degrees and experience in medical genetics and
counseling.
A genetic counselor might provide information about how a genetic
condition could affect an individual or family and/or interpret genetic
tests designed to help estimate the risk of a disease.
It also defined as medical education of affected individuals and the
general public concerning inherited disorder . (Levy B, Wapner R
5. TIME FOR GENETIC COUNSELLING
The best time to seek genetic counseling is before becoming
pregnant, when a counselor can help assess the risk factors.
But even after become pregnant, a meeting with a genetic
counselor can also be helpful.
Genetic Counselor
Parents /Individuals
Fig:-Genetic Counselling
6. .
IMPORTANCE
Pregnancy planning:-During pregnancy, genetic counseling can
detect any problems or conditions that may affect the developing
fetus during infancy and childhood.
Caring for children with suspected genetic disorders:-This
is important when children show signs and symptoms of a
genetically linked condition.
Managing health:-This is important when individuals may have a
family history of a particular disease such as hereditary breast and
ovarian cancer, etc.(Levy B, Wapner R (2018)
7. TECHNIQUES
By using following techniques genetic counselling can be done
easily.
A.Karyotype:- It is the test of blood or body fluids for abnormal
chromosomes in individuals.
B.Pedigree Analysis:-This is a common test used to determine
the risk of a child having a genetics disorder that his ancestors
were carriers for.
C.Amniocentesis:-Genetic amniocentesis involves taking a
sample of amniotic fluid and testing the DNA from the cells for
diagnosis of genetic disorders.(Agarwal K, Alfirevic Z (2012)
9. .
DEFINITION
The medical test in which amniotic fluid from mother is taken for
the determination of foetal sex and genetic disorder on the
chromosome pattern is known as amniocentesis.(Martin S (2001)
DESCRIPTION
This procedure is performed usually in the beginning of pregnancy
to detect chromosomal abnormalities in the fetus.
Usually done in between the 16-22 weeks of woman pregnancy.
The entire amniocentesis appointment lasts approximately 45
minutes .
Sheded skin and waste product of developing baby is present in
amniotic fluid by which potential problems of fetus can be
determined.
Result of this test take 10 days to 3 weeks depending upon the
lab.(Martin S (2001)
12. First under the guidance of ultrasound a sterile needle is inserted
through the abdominal wall into the amniotic sac.
Then a small amount of amniotic fluid is withdrawn through the
needle.
The amniotic fluid contains fetal cells which are now separated from
the amniotic fluid and cultured for 10 days to gain fully grown cell.
After culture laboratory test are performed in which chemical
analysis, DNA analysis, and chromosomal analysis occur.(Hwang et
al(2022)
13. Genetic testing:-Genetic amniocentesis involves taking a sample
of amniotic fluid and testing the DNA from the cells for diagnosis of
certain conditions, such as Down syndrome, Turner syndrome etc.
Diagnosis of fetal infection:- Occasionally, amniocentesis is
used to look for infection or other illness in the baby.
Treatment:- Amniocentesis might be done to drain amniotic fluid
from the uterus if too much has built up — a condition called
polyhydramnios.
Fetal lung testing:- If delivery is planned sooner than 39
weeks, amniotic fluid might be tested to help find out whether a
baby's lungs are mature enough for birth. This is rarely
done.(Hwang et al(2022)
IMPORTANCE
14. COMPLICATION/PROBLEMS
Miscarriage:-Little chances of miscarriage that is about 1%.
Club Foot:-Higher chances of club foot (deformed ankle and foot)
if amniocentesis done before 15 week of pregnancy.
Injury from needle:-During amniocentesis the placenta may be
punctured by the needle. Ultrasound now commonly used to
reduce the risk of injury.
Infection:-Infection may develop if the procedure introduce
bacteria in the amniotic sac which cause health problem both for
mother and fetus. (Agarwal K, Rana A, Ravi AK (2014)
15. 1. Martin S (2001). "Congenital toxoplasmosis". Neonatal Network.
20 (4): 23–30. doi:10.1891/0730-0832.20.4.23.
2. Agarwal K, Alfirevic Z (2012). "Pregnancy loss after chorionic villus
sampling and genetic amniocentesis in twin pregnancies: a
systematic review". Ultrasound in Obstetrics & Gynecology. 40 (2):
128–134.
3. Agarwal K, Rana A, Ravi AK (2014). "Treatment and Prevention of
Rh Isoimmunization". Journal of Fetal Medicine. 1 (2): 81–88.
doi:10.1007/s40556-014-0013.
4. Hwang D.S, Mahdy H (2022). "Polyhydramnios". StatPearls.
Treasure Island (FL): StatPearls Publishing. PMID 32965811.
Retrieved 2022-11-14.
5. Levy B, Wapner R (2018). "Prenatal diagnosis by chromosomal
microarray analysis". Fertility and Sterility. 109 (2): 201–212.
REFERENCES
16. .
• My subject teacher: Dr. Gagan Kumar Panigrahi.
• Dr. Yashaswi Nayak, HOD and Dean SoAS.
• All the faculty members of Department of
Zoology, School of Applied Science, CUTM.
• Family and Friends.
ACKNOWLEDGEMENT
