genetic counseling power point.ppt nursing

Genetic counselling

3. DEFINITION
Genetic counseling is defined as
"the process by which patients or
relatives at risk of a disorder are
advised of the consequences of the
disorder, the probability of
developing and transmitting it, and
ways in which this can be
ameliorated.

4. Genetic counseling is a
communication process that
deals with the human
problems associated with the
occurrence or recurrence of a
genetic disorder in a family
and the means of coping with
it.

5. CONCEPT
The concept of genetic counseling
is being a process of
communication and education
which addresses concerns relating
to the development and/or
transmission of a hereditary
disorder.

6. AIMS
•Comprehend the medical facts including the
diagnosis, probable course of the disorder and
the available management.
•Appreciate the way heredity contributes to the
disorder and the risk of recurrence in the
specified relatives.
•Understand the alternatives for dealing with the
risk of recurrence.
•Chose a course of action which seems to them
appropriate in view of their risk, their family goals,
and their ethical and religious standard and act in
accordance with the decision.
•Make the best possible adjustments to the
disorder in an affected family member and/or to
the risk of recurrence of that disorder.

7. PURPOSES
•Advise couple before conception of the
probability of conceiving an infant with a
genetic disorder
•Advise couples after conception and fetal
screening of whether the fetus has a
genetic disorder
•Inform the couple the option available to
them including choosing not to become
pregnant

8. OBJECTIVE
•The objectives are to provide
information, and assist the couple
to adjust to the problem and there
by decrease the incidence of
births of genetically defective
babies.

9. CANDIDATES FOR SCREENING
•Women over 35 years
•Family history of neural tube defects
•Previous baby born with neural tube
defects
•Previous child with chromosomal anomaly
•One or both parents- carriers of sex
linked, autosomal traits
•A mentally retarded child with or without
congenital anomaly
•History of recurrent abortion.

10. RISK FACTORS
•Prenatal risk factors that are associated with
multiple congenital anomalies are:
•Oligohydramnios
•Polyhydramnios
•Severe intrauterine growth restriction
•Decreased fetal activity
•Uncontrolled diabetes mellitus in the
preconceptional period
•Contact with tertogens (infection with rubella or
CMV).

11. PREREUISITES FOR PROPER
GENETIC COUNSELING
•Correct diagnosis
•Pedigree analysis
•An estimation of the recurrence risk
•To be non-directive; all information is
given so that the parents make their
own informed decision.

12. GENETIC COUNSELING CASE
MANAGEMENT PROCEDURE
Information gathering
– History with particular emphasis
on pedigree construction and
analysis
– Detailed clinical examination
– Diagnosis
– Investigation of family members.

13. Information giving
•Nature and course of disorder
•Recurrence risk
•Possible treatment
•Availability of further/future testing
•Prenatal diagnosis if possible
•Decision making
•Referral to other specialist, health
agencies, support groups.

14. follow up
•Continuing clinical assessment
especially if no diagnosis
•Psychological support.

15. SPECIAL PROBLEMS IN
GENETIC COUNSELING
•Consanguinity
•Incest
•Adoption and genetic disorders
•Disputed paternity

16. PRINCIPLES OF GENETIC
CONSELING
•The individual or couple being
counseled needs a clear
understanding of the information
provided
•It is never appropriate for any
health care provider to impose his
or her values or opinion on others.

17. NURSING RESPONSIBILITIES
Nurses can be instrumental in the following:
•Alerting a couple to what procedures they can
expect to undergo
•Explaining how different genetic screening tests
are done and when they are usually offered
•Supporting a couple during the wait for test
results
•Assisting couples in values clarification,
planning, and decision making based on test
results.

18. Preparation for counseling
•Genetic counseling begins with careful
assessment of the pattern of inheritance in the
family.
• History, physical examination of family
members and laboratory analysis, such as
karyotyping are performed to define the extent
of the problem and the chance of inheritance.

19. History
•A detailed family history is obtained to see if
any disorders are present in family members.
•Mother's age
•Ethnic background
•H/O spontaneous miscarriage or children in the
family who died at birth.
•Extensive prenatal history of any affected
person
•A family pedigree is done to attempt to
diagnose the trends of inheritance.

20. Physical assessment
During inspection-particular attention to certain body
areas.
•Space between the eyes
•The height
•Contour and shape of ears
•Number of fingers and toes and the presence of
webbing
•Dermatoglyphics -to detect any abnormal finger prints or
palmar creases, abnormal hair whorls or coloring.
•Careful inspection of newborn to identify a child with a
potential chromosomal disorder.
•Infant with multiple congenital anomalies.
•Those born at < 35 weeks gestation

21. Diagnostic testing
•Pre-implantation genetic diagnosis
•Maternal serum alpha feto- protein (MSAFP)
•Chorion villus biopsy
•Triple test : MSAFP, uncongugated oestriol and hCG.
•High resolution ultrasonography
•Cordocentesis
•Fetoscopy
•Karyotyping
•Barr Body determination
•Percutaneous umbilical blood sampling.

22. Follow up care
•Maintain contact with the family after genetic counseling, testing
or therapy
•Post diagnostic or post counseling visit to assess how well the
family is beginning to incorporate this new information onto their
lives and value systems.
•Follow up visits to the counseling services or visits to the home
provides additional opportunities to re-explore all aspects of the
situation and answer any questions that may have occurred to
the family since the previous contacts.
•Referral to appropriate agencies is another essential part of the
follow up management. The nurse should make the parents
aware of all possible sources of aid, including relevant
literature, parent groups, and national organizations. Nurses
need to be familiar with the services available in their
community that provide assistance and education to families
with these special problems.

23. Emotional support
•A major function is providing emotional support to the family
during all aspects of the care of the child born with a defect or
disorder.
•Feelings generated under real or imagined threat posed by a
genetic disorder vary as much as the people being counseled.
Responses may include several stress reactions, including
apathy, denial, anger, hostility, fear, embarrassment, grief and
lose of self esteem.
•Families and individuals need education, guidance and support
throughout the counseling process. They should be given the
facts and possible consequences and all the assistance they
need in problem solving, but the final decision regarding a
course of action must be their own.

24. Legal and ethical aspects of Genetic
Screening and Counseling
•Participation in genetic counseling must be voluntary
•People desiring genetic screening must sign an
informed consent for the procedures.
•Results must be interpreted correctly and provided to
the individual as quickly as possible.
•The results must not be withheld from the individual
and must be given only to those persons directly
involved.
•After genetic counseling, persons must not be force to
undergo procedures such as abortion or sterilization.
Any procedure must be free and individual decision.