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1 INTRODUCTION
2 DEFINITIONS
3 PURPOSE
4 PRINCIPLES
6 INDICATION
7 TYPES
8 STEPS
INHERITANCE:
The passing of familial elements from one
genaration to the next.
Counseling is a process of communicating
between two or more persons who meet to solve a
problem, resource a curese or take decision on
various matters. It is not a one way process where
in the counseling tells the client what to do nor it is
a forum for presentation of the counselor’s values.
Genetic counseling process follows these
basic characteristic of a counseling process. It is
undertaken with families confronted with genetic
and inherited disorders.
inherited disorders.
Reassure people who are concerned that
Birth defect
Mental retardation
Miscarriage
malformation
TYPES
prospective retrospective
This allow for the true prevention disease.
1. History
2. Pedigree charting
3. Estimation of risk
4. Transmiting information
5. managment
A proper record of the history of the patient isnecessary:
This includes both present and relevant past history
Family history includes siblings and other relatives also.
Kindly note if there is any other person in the family with a
similar problem
Obstetric history of includes exposure to teratogens (drugs, X-
rays) in pregnancy. History of abortion or still birth if any, should
be recorded
Enquiry should be made about consanguinity as it increases
the risk especially in autosomal recessive disorders
At a glance this offers in a concise manner the
state of disorder in a family. Constructing a
pedigree with proper interrogation though time
consuming, is ultimately rewarding. If forms an
indispensable step towards counseling
It forms one of the most important aspect
of genetic counseling. It is often called
recurrence risk. To estimate it one requires to
take into account following points:
Mode of inheritance
Amniocentesis
Pediatric Genetic Counseling