Genetic Assessment and Counseling

By
ARACELI FLORES SURAT,MAN

NCM 109 INSTRUCTOR
Genetics- a branch of biology concerned with the
study of genes, genetic variations and heredity in
living organism
Genetic counselling- is a process of communicating

between two or more persons who meet to solve a
problem, resource a curse or take decisions on various
matters. It is not a oe way process where in the
counseling tells the client what to do nor it is a forum
for presentation of the counselor’s value
Is the process of advising individuals and fmilies
affected by or at risk of genetic disorders to help them
understand and adapt to the medical, psychological
and familial implications of genetic contributions to
disease
other terms
Phenotype – refers to outward appearance of the
expression of genes
Genotype – refers to actual gene composition
Genome – complete set of genes present
 Normal genome ; 46XX/46XY
Genetic disorders – disorder passed from one
generation to the next
Occur in same ethnic group
Occur at the moment an ovum and sperm fuse or
even earlier in the meiotic division phase of the ovum
or sperm when the chromosome count is halved from
46 to 23.
Methods of Assessment
A. History Taking
 Include any one related to the family
 Maternal age (> 35 y/o)
 Paternal age (>55y/o)
 Document parents if consanguineous/related to each
other
 Document ethnic background
 Extensive prenatal history
B. Physical assessment
Pay particular attention to the space between the
eyes, height, contour, shape oe ears, number of
fingers and toes, presence of webbing
DERMATOGLYPHICS – study of surface markings of
the skin
Down syndrome/Trisomy 21
e: 47XXY21/47D XY21
Code: 47XXY21/47 XY21
Characteristics
Late closure of fontanelle Extra pad of fat at the base of the head
Slant eyes causes the skin to loose
Epicanthal fold( extrafold of tissue at Poor muscle tone ( rag-doll
the inner cannula ) appearance)
Brushfield spots ( iris with white Fingers are short and thick
specks) Little finger is often curved inward
Large tongue Wide space between the 1st and 2nd
Low set ears finger and toes
Small mouth cavity Palm- with one single horizontal
Back of the head is flat simian crease
Neck is short Small head
Brain is not well developed
IQ= 50-70
Prone for infection
Clinodactyly
Abnormal dermatoglyphics
Fragile X syndrome
Code: 46XY23q)
Characteristics
Most common cause f cognitive Bossing (prominent forehead)
challenge in males Prominent lower jaw
-An X linked disorder in which 1 long Large hands
arm of an X chromosome is defective Marked deficit in speech and
- before puberty: displays maladaptive mathematics/problem solving
behavior such as hyperactivity and Large head
autism Long face
Large protruding ears
After puberty: enlarged testicles
Trisomy 18 syndrome / Edward’s
syndrome
Code: 47XY18/47XX18
Characteristics
have copies of chromosome 18 Microcephaly
- do not survive beyond early infancy Severely cognitively challenges
SGA at birth
Marked low set ears
Small jaw
Congenital heart defects
Misshapen fingers and toes (index
fingers deviates or cross over other
finger)
Multiple hair whorls
Turner syndrome
Code: 45X0
characteristics
Has only 1 functional X chromosome Low set hair line
Webbed neck
Can be identified with an UTz during Gonadal dyagenesis
pregnancy because of the increase neck Short in structure
folds Has only streak (small and
nonfunctional) ovaries
Sterile
Exception of pubic hair; secondary sex
characteristics do not develop at
puberty
Newborns= edema on the hands and
feet
With coarctation (stricture) of aorta
and kidney disorder
Severely cognitively challenge
Klinefelter syndrome
Code: 47XXY
characteristics
Males Absence of secondary sex
With an extra X chromosome characteristics
Small testes- produces ineffective
sperm
Gynecomastia ( enlarged breast size)
Increased risk of male breast cancer
Trisomy 13/patau syndrome
Code: 47 XX13/47 XY13
Characteristics
Has an extra chromosome 13 and Microcephaly
cognitively challenged Clip lip and palate
Most do not survive beyond early Low set ears
childhood Multiple hair whorls
Wide set nipples
Rocker bottom feet
Heart defects ( ventricular septal
defect)
Abnormal genitalia
Small eyes (microphthalmus)
C. Diagnostic testing
Karyotyping sample of peripheral venous blood or a
scraping of cells from the buccal
membrane is taken
Cells are allowed to grow until they
reach metaphase- most easily observed
phase
Cells are stained, placed under a
microscope and photographed
Chromosomes are identified according
to size, shape and stain
Maternal serum screening Done at 15th week of pregnancy
Alphafetoprotein (AFP)- a glucoprotein
produced by the fetal liver
Peak is between 13th and 32nd week of
pregnancy
RESULT: if elevated – it means spinal
cord disease/ neural tube defects
If below – it means
chromosomal disorder/Down
syndrome
MSAFP (Maternal Serum
Alphafetoprotein)
CVS (Chorionic Villi Sampling – a diagnostic techniques that involves
the retival and analysis
of
chorionic villi from the growing
placenta for chromosome
or
DNA analysis
Commonly done at 8-10 weeks r 10-12
weeks of pregnancy
May be done as early as 5 weeks
Amniocentesis withdrawal of amniotic fluid through
the abdominal wall for analysis
Done between 14th-16th week of
pregnany
A pocket of amniotic fluid is located by
ultrasound (UTZ)
A needle is inserted transabdominally
Aspirate 20 ml of amniotic fluid
Client receieves Rh immune globulin
administration after the procedure
(Rhogam)
PUBS ( Percutaneous Umbilical Blood Other name: Cordocentesis
Sampling) Removal of blood from the fetal
umbilical cord at about 17 weeks using
an amniocentesis technique
Fetal Imaging MRI and UTZ = used to assess a fetus
for general size and structure disorder
of the internal organs, spine and limbs
GENETIC COUNSELING
Provide concrete, accurate information about the process of

inheritance and inherited disorder
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 disorder to
make informed choices about future reproduction
Offer support on people who are affected by genetic
disorder
oBserve data privacy
ideal time for counseling is before 1st pregnancy
ROLE OF A NURSE IN GENETIC
COUNSELING
Guiding women or couple through prenatal diagnosis
Helping parents to make decisions in regards to
abnormal prenatal diagnosis results
Assisting parents whi have hada 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
Coordinate services of other professionals such as
social workers, physical and occupational therapists,
psychologist, dietatcian
Importance of genetic
counselling
1. Aid in determining the risk of disease
2. Help in identifying a hereditary condition
3. Assist in whether genetic testing is appropriate
4. Offer duagnosis and disease prevention and
management
5. Offer emotional and psychological support, ethical
guidance to help clients make well informed
autonomous health care decisions and
resproductive choices

Genetic Assessment and Counseling

Uploaded by

Copyright:

Available Formats

Genetic Assessment and Counseling

Uploaded by

Document Information

Original Description:

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Genetic Assessment and Counseling

Uploaded by

Copyright:

Available Formats

By

ARACELI FLORES SURAT,MAN

Genetic counselling- is a process of communicating

Provide concrete, accurate information about the process of

You might also like