GOVERNMENT COLLEGE OF NURSING,

JODHPUR

SUBJECT-OBSTETRICS & GYNECOLOGY SPECIALTY-I

PRESENTATION
ON

GENETIC COUNSELLING
AND
TETRATOLOGY

SUBMITTED TO - SUBMITTED BY-

MRS. SUMI MATHEW GEETA DHAKA
H.O.D M.sc (N) Pre. year
OBS. AND GYN.

Presentation on:

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GENETIC COUNSELLING
INTRODUCTION:
Genetics is the science that studies the structure and behaviour of the gene. Gregor Mendel
was amateur horticulturist, he performed few experiments with ordinary garden peas and
gave Mendelian theory of Inheritance.
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 two or more persons who meet to solve a
problem, resource a curse or take decision on various matters. It is not a one-way process
where in the counselling tells the client what to do nor it is a forum for presentation of the
counsellor’s values.
Genetic counselling process follows these basic characteristics of a counselling process. It is
undertaken with families confronted with genetic and inherited disorders. Sheldon reed
proposed the terminology “GENETIC COUNSELLING” in 1947.
Genetic counselling is a process by which patients or relatives, at risk of an inherited
disorder, are advised of the consequences and nature of the disorder, the probability of
developing or transmitting it and the options open in order to prevent or avoid.

TERMINOLOGY:
1. Inheritance pattern:
2. Chromosomal aberration:
3. Eugenics :
4. Euthenics :
5. Consanguineous marriage:
6. Meckel’s diverticulum:
7. Prospective genetic counselling:
8. Retrospective genetic counselling:
9. Heterozygous marriage:
10. Teratogenic agents:

AIMS OF GENETIC COUNSELLING:

The genetic counselling aims to provide the family with complete and accurate information
about genetic disorder.
1. Promoting informed decision by involved family members.
2. Clarifying the family’s options available treatment and prognosis.
3. Explaining alternatives to reduce the risk of genetic disorder.
4. Decreasing the incidence of genetic disorders.
5. Reducing the impact the disorders.
PRE-REQUISITES OF GENETIC COUNSELLING IS:
 Detailed family history.

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  Accurate diagnosis.
 Understanding the medical aspect of the disorder (etiology, natural history, treatment,
prognosis, burden).
 Understanding the inheritance pattern (recurrence risk).
 Understanding the psycho-social impact of the information.
 Training/experience in counselling techniques.
 Understanding the concepts of health/disease/health care in the appropriate cultures.
FUNCTIONS OF GENETIC COUNSELLING SESSION:
 Provide information.
 Available solution.
 Help person to understand and cope with their condition.
 Testing the risk of recurrence.
INDICATIONS FOR GENETIC COUNSELLING:
 Hereditary disease in a patient or family.
 Birth defects.
 Mental retardation.
 Advanced maternal age.
 Early onset of cancer in family.
 Miscarriages.
 Malformations.
 Tendency to develop a neurologic condition.
INFORMATION CONVEYED IN GENETIC COUNSELLING:
1. Magnitude of risk of occurrence or recurrence.
2. Impact of disease on patient and family.
3. Modification of disease impact or risk.
4. Anticipated future development.
STEPS OF GENETIC COUNSELLING:
1. History
2. Diagnosis
3. Prognosis
4. Treatment
GENETIC COUNSELLING ETHICS:
1. Respect the right of individual.
2. Non-directive approach.
3. Keep privacy of individual and family.
4. Maintain communication between counsellor and his client.
5. Parental autonomy in abortion choices.

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GENETIC COUNSELLING:
1. Prospective.
2. Retrospective.
1. Prospective genetic counselling:
 This allows for the true prevention of disease.
 Identifying heterozygous individual for any particular defect by screening.
 Explaining to them the risk of their having affected children if they marry
another heterozygous for the same gene.
 If heterozygous marriage can be prevented or reduced, the prospects of giving
birth to affected children will diminish. E.g., sickle cell anaemia, thalassemia.
2. Retrospective genetic counselling:
 Most genetic counselling at present is retrospective i.e., the hereditary disorder
has already occurred within the family.
 The method which could be suggested under retrospective genetic counselling
are:
i. Contraception
ii. Pregnancy termination.
iii. Sterilisation depending upon the attitudes and cultural, environment
of couple involved.
TYPES OF GENETIC SCREENING
a) Carrier identification e.g. haemophilia carrier
b) Prenatal diagnosis e.g. deficincy of folic acid, rubella.
c) New born screening e.g. spina bifida, club foot.
d) Forensic screening (paternity test)
EARLY DIAGNOSIS AND TREATMENT
1) Detection of genetic carriers:
It is possible to identify the healthy carrier of a number of genetic disorder especially
the inborn error of metabolism.
2) Prenatal diagnosis:
Prenatal diagnosis forms an integral step in genetic counselling. In fact, the couple at
risk of a disorder, it is desirable to consider, the plan and discuss prenatal diagnosis
even before pregnancy. Discussion and planning before head will eliminate hurried
procedures and emotional trauma as well.

Indications:
 Advanced maternal age.
 Previous child with chromosome aberration.
 Intrauterine growth delay
 Biochemical disorders.
 Congenital anomaly.
 Screening for neural tube defects and trisomy.
Approaches to prenatal diagnosis:

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  Amniocentesis
 Chorionic villus biopsy
 Ultrasonography
 Fetoscopy
 Foetal blood sampling prenatal diagnosis.
 Maternal blood screening e.g. maternal alpha fetoprotein testing,
cordocentesis.
 Pre implantation diagnosis.
PREVENTIVE AND SOCIAL MEASURES:
Health promotional measures:
a) Eugenics:
i. Negative eugenics
Aim: To reduce the frequency hereditary disease and disability
in the community to as low as possible.

ii. Positive eugenics

Aim: To improve the genetic composition of the population by
encouraging carriers of desirable genotypes.

b) Euthenics:
Studies with mentally retarded children indicated that exposure to
environmental stimulation improved their IQ.
This environmental manipulation is called euthenics.
OTHER GENETIC PREVENTION MEASURES:
 Consanguineous marriages:

When blood relatives marry each other, there is an increased risk in the
offspring of traits controlled by recessive genes and those determined by
polygenes. e.g., albinism, phenylketonuria, alkaptonuria.
An increased risk of premature death is also noted in such offspring.
Therefore, a lowering of consanguineous marriages would be advantageous to
the health of the community.
 Late marriage:

Trisomy or mongolism is more frequent in children born of elderly.

Hence early marriages of females is better than late marriage from the point of
view of preventing mongolism.

SPECIFIC PROTECTION:
Patients undergoing X-ray examination should be protected against
unnecessary exposure of the gonads to radiations.

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ROLE OF NURSE IN GENETIC COUNSELLING:
 Guiding women or couple through prenatal diagnosis.
 Helping parents make decision in regard to abnormal prenatal diagnostic
results.
 Assisting parents who have had a child with birth defect to locate needed
service and support.
 Providing support to help the family deal with emotional impact of a birth
defect
 Coordinative services of others professionals, such as social workers, physical
and occupational therapist, psychologist and dietician.

CONCLUSION:
Genetic counselling enables couples/affected individual to make decision
about a future pregnancy. It helps the affected individual to educate and cope with the
disorders with minimal clinical problem.
Therefore, genetic counselling is done in an objective manner, so that any
treatment selected remains the personal choice of the individual involved.
Hence thorough knowledge of the disease for giving information regarding
the cause and risk factors of the disease is necessary before counselling.
Genetic counselling aim is to bridge the gap for people between genetic field complexity
and their life.

BIBLIOGRAPHY:
1) Jorde Lynn B. Medical Genetics.Mosby,2005
2) KingRC, Stanfield WD. Dictionary of Genetics 3rd ed. Oxford University Press, 1985
3) Harber P. Practical Genetics Counselling . Oxford, Butterworth Heinemann,1993
4) K.Parks. textbook of prevention and social medicine,15th ed. Bhanot publishers -563-
564
5) Shabeer Basheer. A concise textbook of advanced nursing practice. 1st ed. EMMES
publication, Banglore,2012
6) Kaur Navdeep,
7)

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