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1. AMNIOCENTESIS AND GENETIC
COUNSELLING
By
NAME:-Rajalaxmi Sar
REGD.No.:-220705180043
BRANCH:- M.Sc. Zoology
SCHOOL:- School of Applied Sciences
(Department of Zoology)
SUBJECT:- Genetic and Epigenetics
Guided By:- Dr. Gagan Kumar Panigrahi

2. Content:-
• Introduction
• Amniocentesis
• Genetic Councelling
• References
• Acknowledgements

3. Introduction:-
• Genetics is a branch of biology concerned with the study of genes, genetic
variation, and heredity in living organism.
• The term genetics was introduced by Bateson in 1906. It has been derived from
Greek word 'gene’ which means to become or to grow into.
• Counselling is a process of communicating between 2 or more persons who
meet to solve a problem, resources a curse or take decision on various matter,
It is not a one way process where the counselling tells the client what to do not
it is a forum for presentation of the counselor’s value.
• Amniocentesis is a test done in pregnancy that involves removing a small
amount of amniotic fluid or testing.

4. Amniocentesis:-
• Amniocentesis is a pre- natal diagnostic technique . It is a technique to
determine the sex of the developing baby, generally controlled congenital
disease and metabolic disorders in the foetus.
• Amniocentesis is a medical procedure used in parental diagnosis of
chromosomal abnormalities and foetal infection and also for sex
determination.
• In this process a small amount of amniotic fluid which contains foetal
tissues, is sampled from the amniotic sac surrounding a developing foetus
and then the foetal DNA is examined for the genetic abnormalities.
• Amniocentesis was 1st introduced by American Scientist Fritz Friedrich
Fuchs and Polv Riis in 1956 for foetal sex determination and up to 1970s
amniocentesis were done blind.
• Tests that carried out for amniocentesis are color, chromosome analysis,
Alpha- Fetoprotein, lecithin.
• Some complication of an amniocentesis may include – cramping, Infection,
preterm labor , miscarriage.

5. Fig-(Amniocentesis )
Source-@wikipedia

6. Genetic Counselling:-
• A communication process that deals with human problems associated
with the occurrence or the risk of occurrence of genetic disorders in
individual or families.
Fig- (Genetic Counselling)
Source-@wikipedia

7. Types of genetic counselling:-
• Providing psychosocial support.
• Discussing the options available for dealing with the disorders.
• Reduce the family anxiety.
• Reducing the impact of genetic disorders.
• Explaining alternatives to reduce the risk of genetic disorders.
Types of genetic counselling:-
• Prospective:-This allows for the prevention of disease. Identifying
heterozygous individuals for any particular defect by screening.
• Retrospective:- Most genetic counselling at present is retrospective
i.e. the hereditary disorder has already occurred with the family.
• The method which could be suggested under retrospective genetic
counselling are:-(i)- contraception, (ii)- sterilization, (iii)- pregnency
termination.

8. REFERENCES:-
• Elsayes KM, Trout AT, Friedkin AM et-al. Imaging of the placenta: a
multimodality pictorial review. Radiographics. 29(5): 1371-91.
• Levine D, Callen PW, Pender SG et-al. Chorioamniotic separation
after second- trimester genetic amniocentesis; importance and
frequency. Radiology. 1998; 209(1): 175-81.
• Medeiros F, Muto M, Lee Y, et al. The tubal fimbria is a preferred site
for early adenocarcinoma in women with familial ovarian cancer
syndrome. Am J Surg Pathol. 2006;30(2):230–6.

9. ACKNOWLEDGEMENT:-
• Special thanks to my subject teacher , Dr. Gagan Kumar Panigrahi
School of Applied Science, CUTM, Bhubaneswar .
• All the faculty members of Department of zoology, School of Applied
Sciences, CUTM, Bhubaneswar.