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1. SEMINAR ON
GENETIC COUNSELLING
PRESENTED BY-
RAMAKANTI
M.Sc. (N) I

2. GENETICS-
Genetics is a branch of biology
concerned with the study of genes, genetic
variation, and heredity in organisms.
COUNSELLING-
Counseling is an interactive client
beneficial relationship set up to approach a
clients issues. These issues can be social,
cultural and or emotional and
the Counselor will approach them in a holistic
way.

3.  GENETIC COUNSELLING-
Genetic counseling is a
communication process, which aims to help
individuals, couples and families understand and
adapt to the medical, psychological, familial and
reproductive implications of the genetic
contribution to specific health conditions.
 Genetic counseling is a process to evaluate and
understand a family's risk of an inherited
medical condition. A genetic counselor is a
healthcare professional with specialized training
in medical genetics and counseling.

4. Genetic counseling integrates the following-
Interpretation of family and medical histories to assess the
chance of disease occurrence or recurrence.
Education about the natural history of the condition, inheritance
pattern, testing, management, prevention, support resources
and research.
Counseling to promote informed choices in view of risk
assessment, family goals, ethical and religious values.
Support to encourage the best possible adjustment to the
disorder in an affected family member and/or to the risk of
recurrence of that disorder

5. PURPOSE OF GENETIC
COUNSELING
 Provide concrete, accurate information about
inherited disorders.
 Reassure people who are concerned that their
child may inherit a particular disorder that the
disorder will not occur.
 Allow people who are affected by inherited
disease to make informed choice about future
reproduction.
 Offer support by skilled health care
professionals to people who are affected by
genetic disorders.

6. INDICATIONS
1- Advanced parental age:-
maternal age > 35 yrs
Paternal age>50 yrs
2- Previous child with or family history of-
 Congenital anomaly
 Dysmorphism
 Intellectual disability
 Developmental delay
 Metabolic disorder
 Chromosomal abnormality
 Myopathy / Neuropathy

7. 3- Consanguinity
4- Teratogen exposure
5- Repeated pregnancy loss or infertility
6- Pregnancy screening abnormality-
 Maternal serum α-feto protein
 Maternal triple or quad test
 Fetal ultrasonography

8. TYPES OF GENETIC COUNSELLING
There are two types of genetic counselling-
 Prospective genetic counselling
 Retrospective genetic counselling
 Directive
 Non - directive

9. Prospective genetic counselling-
Genetic counseling may
be prospective identification of heterozygous
individuals for any particular defect by means of
screening procedures and explaining to them
the risk of their having affected children if they
marry another heterozygote for the same gene.
Ex-

10. Retrospective genetic counselling-
Most genetic counselling at
present is retrospective, (the hereditary
disorder has already occurred within the
family).
Ex- mental retardation, psychiatric illness
The methods which should be suggested under
retrospective genetic counselling are-
 Contraception
 Pregnancy termination
 Sterilization

11.  Directive counseling - Directive counseling is based
on the assumption that the professional training and
experience of the counselor or therapist equip him or
her to manage the therapeutic process and to guide
the client's behavior.
 Nondirective counseling- Nondirective counseling is
to listen, support, and advise, without directing a
client’s course of action.
Non-directiveness implies that the therapist practices
'neutrality', that is, the maintenance of curiosity,
acceptance, interest and respect for the person's
point of view, and the avoidance of taking a position
for, or against a particular outcome or behaviour
change.

12. AREAS OF GENETIC COUNSELING
 Prenatal Genetic Screening
Aims: Detection and identification of couples
(individuals) who are at high risk for having a child with
an inherited (chromosomal or genetic) disorder.
 Noninvasive screening for chromosomal anomaly
(trisomy 21, 18, 13) should be a routine to all pregnant
women, irrespective of their age. Women who are
screen positive should be offered fetal karyotyping for
confirmation.

13. PEDIATRIC GENETIC COUNSELING
Families or pediatricians seek genetic
counseling when a child has features of an
inherited condition. Any child who is born
with more than one defect, mental
retardation has an increased chance of having
a genetic syndrome.

14. ADULT GENETIC COUNSELING
Adult may seek genetic counseling when a person
in the family decides to be tested for the
presence of a known genetic condition, when an
adult begins exhibiting symptoms of an
inherited condition, or when there is new
diagnosis of someone with an adult- onset
disorder in the family.

15. CANCER GENETIC COUNSELING
 Cancer genetic counseling involves having a
certified genetic counselor help you and your
family understand your inherited cancer risk.
Inherited cancer risk may be passed from
parent to child. A genetic counselor explains
available genetic tests and what they mean.

16. STEPS OF GENETIC COUNSELING
History &
physical
examination
• Include present, past history, detailed family history,
obstetrics history, including still births & abortions.
• Careful examination of affected ( photographs, measurement)
Pidgree
• Construct a 3 generation pedigree diagram with their age, sex,
& state of health
Risk
assessment
• Requires to take- mode of inheritance, analysis of pedigree or
family tree, results of previous tests.

17. Diagnosis
•Tests may include X-rays, an MRI or genetic tests (usually blood
or urine tests).
Communication
•Transmitting the information with ample time for discussions &
questions.
Management
•aims for prevention rather than cure.
•Treatment is therefore directed towards minimizing the damage
by early detection & preventing further irreversible damage.

18. PRENATAL DIAGNOSIS

19. INTRODUCTION-Prenatal testing consists of
prenatal screening and prenatal diagnosis, which
are aspects of prenatal care that focus on
detecting problems with the pregnancy as early as
possible.
INDICATIONS-
 To identify fetal disease when abortion is being
considered.
 Advanced maternal age
 Previous offspring of congenital anomalies
 Positive maternal screening test
 Mother having disease or being exposed to drug,
medication, or infections known to be associated
with congenital malformations.

20. METHODS OF PRENETAL DIAGNOSIS
 Imaging- Ultrasound
MRI
 Fluid analysis- Amniocentesis
 Cordocentesis
 Maternal serum tests- α-feto protein
Triple test
Quad test

21. • USG, MRI
• Maternal serum analysis
• Maternal cervical fluid analysis
Non invasive
methods
• FLUID ANALYSIS
• amniocentesis
• codocentesis
• FETAL TISSUE ANALYSIS
• chorionic villus sampling
Invasive
methods

22. IMAGING
Ultrasound
• In the 1st trimester most reliable method to
know gestational age.
• Fetal growth abnormalities- by biometric
measurement of biparietal diameter, femoral
length, or head or abdominal circumference.
• Fetal anomalies- Hydrocephalus, NTDs,
duodenal atresia, diaphragmatic hernia, renal
agenesis, limb anomalies, omphalocele,
gastroschisis, hydrops.
• Also help in performing BPP, cordocentesis and
other invasive procedures

23. FLUID ANALYSIS
Chorionic Villous Sampling
Trans cervical or trans abdominal
chorionic villous biopsy, which
provides fetal cells. The placenta
contains tissue that is genetically
identical to fetus.
 Timing: In first trimester, shouldn’t be performed
before 10wk, commonly performed between 11
and 13 wks.
 Indications: for karyotype, enzyme assay,
molecular DNA genetic analysis.

24.  Method of CVS: CVS, transabdominally (TA) and
transcervically (TC), depends on the location of
the villi in the uterus.
 Transabdominal approach-
When the villi are anterior,
under all aseptic precautions
ultrasound guided needle is
passed through abdominal wall
and the uterus to reach the villi.
A syringe attached to the needle
is used to suction out a small amount of villi.

25.  Transcervical (TC) approach- When the villi
are in the lower part of the uterus and
posterior, TC approach is used.
 A thin flexible plastic catheter is carefully
guided through the cervix under ultrasound
guidance to the villi. A syringe attached to the
catheter is used to suction out a small
amount of villi as the catheter is withdrawn.
 The CVS procedure collects larger samples
and provides faster results than
amniocentesis.
 Different from amniocentesis in that it does
not allow for testing for neural tube defects.

26. AMNIOCENTESIS
USG guided percutaneous withdrawal of amniotic
fluid for diagnostic purpose.
 Timing - between 14- 16wks.
 Indications- Karyotype (advanced maternal age)
. Fetal maturity (L:S ratio, phosphatidylcholine or
phosphatidylglycerol)
• Biochemical enzyme/amino acid/hormone
analysis.
• Molecular genetic DNA diagnosis.

27. Method of amniocentesis
 Performed transabdominally (TA). During the
procedure, a needle is passed through the
abdomen and into the amniotic sac under
continuous ultrasound guidance. The needle
stilette is removed once the needle is in the
correct position. A small sample of amniotic fluid
(10–20ml) is then removed using a syringe
attached to the needle.

28. Complications of amniocentesis:
1. Miscarriage (risk about 1%). Before 14 weeks
of gestation (early amniocentesis) has a
higher fetal loss rate.
2. Preterm labor (stimulation of uterine
contraction) or PROM.
3. Injury to fetus
4. Placental puncture and bleeding with
secondary damage to fetus.
5. Infection

29. CORDOCENTESIS
 Cordocentesis, or PUBS (Percutaneous Umbilical
Blood Sampling), is the sampling of blood from the
umbilical cord.
Objective: (a) prenatal diagnosis and
(b) fetal therapy.
Timing: can be performed as early as 16 wks of
gestation but commonly performed between 18-22
wks of gestation for prenatal diagnosis.

30. Indication of cordocentesis-
a) Prenatal diagnosis:
◦ Detection of anemia,
◦ hemoglobinopathies,
◦ thrombocytopenia,
◦ acidosis,
◦ hypoxia,
◦ polycythemia
b) Fetal therapy
- transfusion or administration of drugs.

31. Method of cordocentesis-
Under ultrasound guidance needle is inserted in the
umbilical vein within the umbilical cord at its
placental end or fetal end. Upon entering the
umbilical cord, the stylet is removed and fetal
blood is withdrawn into a syringe attached to the
hub of the needle. The needle is withdrawn, then
the puncture site is monitored for bleeding, and
the fetal heart rate is assessed. After this
procedure, the fetal heart rate and uterine
contraction are monitored for 1-2 hours.

32. Complications of cordocentesis
 Pregnancy loss, overall fetal loss risk of 1-2%.
 Transient fetal bradycardia, manifestations
of a vasovagal response caused by local
vasospasm, more with umbilical artery
puncture.
 Bleeding from the puncture site,cord
hematoma.
 Fetomaternal hemorrhage
 Premature labor
 Infection

33.  MSAFP:
Done between 15 weeks-20 weeks.
Elevated MSAFP detects 85% of all neural tube
defects. Cases with such high values are
considered for high resolution ultrasound
imaging and/or amniocentesis. Very low MSAFP
levels are associated with increased rates of
miscarriage, stillbirth and neonatal death.

34. Triple Test: It is a combined of MSAFP, hCG and
uE3 (unconjugated estriol).
 It is used for detection of Down’s syndrome.
 It is performed at 15–22 weeks.
 Quadruple (Quad) Screening - It includes four
biochemical analytes:
(1) Maternal Serum Alpha Fetoprotein (MSAFP),
(2) Unconjugated estriol (uE3),
(3) dimeric inhibin-A
(4) hCG.

35. ROLE OF NURSE IN GENETIC
COUNSELLING
 Reassure people who are concerned that their
child may inherit a particular disorder that the
disorder will not occur.
 Allow people who are affected by inherited
disease to make informed choice about future
reproduction.
 Educate people about inherited disorder and the
process of inheritance.
 Offer support by skilled health care professionals
to people who are affected by genetic disorders.
 Guiding a women or couple through prenatal
diagnosis.

36.  Helping parents make decision in regard to
abnormal prenatal diagnostic results.
 Assisting parents who have had a child with a birth
defect to locate needed service and support.
 Providing support to help the family deal with the
emotional impact of a birth defect.
 Coordinative services of other professionals, such
as social workers, physical and occupational
therapist, psychologist & dietician.
 Nurses helps the affected individual to educate and
cope with the disorders with minimal clinical
problem.

37. THANK YOU