Professional Documents
Culture Documents
Counseling
Dr. Bheem Prasad (Ph.D)
1
Genetic counselors
An individual who seeks counseling is known
as a Genetic counselor or consultant.
Essential
Essential Components
Components of
of
Genetic
Genetic Counselling
Counselling
Recurrence Risk
History and
pedigree
construction
Follow-up
Clinical
Examination
Confirmatory
diagnosis
- History findings
- Clinical examination findings
- Radiology findings
- Laboratory parameter results
- DNA studies results
- Others
Calculation of
recurrence risk
Counselling
Available
options
X NX A
Sperm
XN
XNY
XN
Eggs
XA
XNXN
X NY
normal
normal
XAXN
carrier
X-linked
recessive disease
XAY
affected
14
FxM
X NX N
Sperm
XA
XAY
XN
Eggs
XN
XNXA
X NY
carrier
normal
X-linked
recessive disease
XNXA
XNY
carrier
normal
FxM
X NX N
Sperm
XA
XAY
XN
Eggs
XN
XNXA
X NY
affected
normal
XNXA
XNY
affected
normal
Prenatal ; 29%
Others (Monogenic Disorders) ; 33%
18
Indications of Genetic
counseling
Presence of congenital malformation lethal or
nonlethal.
Unexplained mental retardation
Neuromuscular disorder
Childhood deafness.
Unexplained still birth
Infertility
Familial cancer
Single gene disorder like Thalassemia.
19
Process of Genetic
counseling
Taking information:
Pedigree construction and analysis
Detailed clinical examination
Diagnosis
Investigation of family members
Giving information
Nature and course of disorder
recurrent risk
possible treatment
20
2. Aminocentesis
Techniques
3. Pedigree Analysis
This is a common
test used to
determine the risk
of a child having a
genetics disorder.
23
Patterns of Inheritance
Patterns in the pedigree are used to determine how a
trait is inherited
(I)Autosomal inheritance: Traits are caused by genes on autosomes
(chrms 1- 22)
Features:
Disease usually appears in each generation
Vertically transmitted
Affected individual has an affected parents.
Male and female offspring are equally affected.
Most patients are heterozygote for the mutant allele.
25
X LINKED DOMINANT
DISORDERS
Arise from an affected heterozygote.
FEATURES
Both sexes are affected, but males (being hemizygous) are
more severely affected.
All the daughters affected from affected father.
Affected heterozygous females transmit there disorders to
male and female equally.
presence of excess affected females and lack of male to male
transmission confirms the X linked dominant pattern.
27
28
Premarital Screening
*Man -History
Blood
Sample
-(Physical Examination)
Normal
affected
**Women History
-(Physical examination)
Blood
Sample
Safe
Marriage
No Problem from
marriage from
any Women
Not safe
Marriage
affected
Genetic Counseling(advise no
marriage with carrier or affected)
Normal
No Problem from
marriage from
any man
Safe
Marriage
Clinical cases
30
Prenatal genetic
counseling
33
Pediatric genetic
counseling
Cancer genetic
counseling
40
Microdeletion Syndromes
Syndrome
Chromosome
Williams
Langer-Giedion
7
8
Angelman
15
Prader-Willi
15
Miller-Dieker
DiGeorge
17
22
41
Proportion shared
First Degree
parent-child
brother-sister
1/2
50%
Second Degree
uncle-niece
aunt-nephew
1/4
5-10%
1/8
3-5%
genes
Risk of
in offspring
45