CHAPTER 8 THE NURSING ROLE

IN GENETIC ASSESSMENT AND

COUNSELLING
GENETIC DISORDERS
• may occur at the moment an ovum and a
sperm fuse or even earlier, in the meiotic
division phase of the gametes
 50% of 1st trimester spontaneous
miscarriages
GENETIC DISORDERS
 Or Inherited disorders = are disorders
that can be passed from one generation to
the next because they result from some
disorder in the gene or chromosome
structure.
 Genetics = is the study of the way such
disorders occur.
 Cytogenetics = is the study of
chromosomes by light microscopy and the
method by which chromosomal
aberrations are identified.
NATURE OF INHERITANCE
 Genes = are the basic units of heredity
that determine both physical and
cognitive characteristics of people.
 Are composed of segments of DNA,
which are woven into strands in the
nucleus of all body cells to form
chromosome.
CHROMOSOMES
CHROMOSOME
NATURE OF INHERITANCE
 Alleles = are the two like genes on
autosomes.
 Phenotype = refers to a person’s outward
appearance or the expression of genes.
 Genotype = refers to a person’s actual
gene composition.
 Genome = is the complete set of genes
present (about 50,000 to 100,000).
 GENETIC INFORMATION
• Gene – basic unit of genetic
information. Genes determine
the inherited characters.
• Genome – the collection of
genetic information.
• Chromosomes – storage units
of genes.
• DNA - is a nucleic acid that
contains the genetic
instructions specifying the
biological development of all
cellular forms of life

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MENDELIAN INHERITANCE
 Gregor Mendel = described the principle
of generic inheritance.
 When dominant gene is paired with
nondominant (recessive) ones, the
dominant genes are always expressed in
preference to the recessive genes.
 Ex: a gene for brown eyes is dominant
over one for blue eyes.
 2 like genes-HOMOZYGOUS (AA)
 2 unlike genes-HETEROZYGOUS (Aa)
MEDICAL GENETICS
When studying rare disorders, general
patterns of inheritance are observed:

• Autosomal recessive
• Autosomal dominant
• X-linked recessive
• X-linked dominant

10
HOW DOES IT WORK?
 DOMINANT VS. RECESSIVE

A dominant allele is
expressed even if it is
paired with a recessive
allele.

A recessive allele is
only visible when
paired with another
recessive allele.
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INHERITANCE OF DISEASE

Autosomal Dominant
•either a person has 2 unhealthy
genes(HOMOZYGOUS DOMINANT)
•e.g.DD or is HETEROZYGOUS
DOMINANT), with the gene causing the
disease stronger than the corresponding
healthy recessive gene for the same trait
e.g. Dd
AUTOSOMAL DOMINANT
DISORDERS

 Huntington disease-progressive neuro

do,
 Marfan syndrome(CT tissue disorder),

 breast & ovarian CA,

 osteogenesis imperfecta(bones are

brittle)
Autosomal
dominant
 Affected males and
females appear in
each generation of the
pedigree.
 Affected mothers and
fathers transmit the
phenotype to both
sons and daughters.
 e.g., Huntington
disease. 17
AUTOSOMAL RECESSIVE
 The disease appears
in M and F children
of unaffected
parents.
 e.g., cystic fibrosis

18
Autosomal Recessive cont’d
•disease does not occur unless 2 genes for
the disease are present(homozygous recessive
pattern)

-CF, albinism, adrenogenital syndrome, Tay-

Sach’s, galactosemia, PKU, Rh-incompatibility
X-linked Dominant Inheritance
• genes are located on,and transmitted only by
the female sex chromosome(X
chromosome)
• if the affected gene is dominant, only 1 X
chromosome with the trait need be
present for symptoms of the disorder to
be manifested

• -Alport’s syndrome- progressive kidney failure

disorder
X-linked Recessive
Inheritance
 Usually, only males will have the disorder

 history
of girls dying at birth for unknown
reasons(females with affected gene on both X
chromosomes)

 hemophilia A, Christmas disease, color

blindness, Duchenne muscular dystrophy and
fragile X syndrome(cognitive challenge
syndrome)
Multifactorial (Polygenic)
Inheritance
 from multiple gene combinations +
environmental factors
 heart ds, DM, cleft palate, NTDs, pyloric
stenosis
CHROMOSOMAL
ABNORMALITIES(CYTOGENIC
DISORDERS)

Abnormalities at fault in the

number/structure of chromosome
which results in missing or
distorted genes
 When chromosomes are photographed and
displayed, the resulting arrangement is
termed a KARYOTYPE
 fluorescent in situ hybridization (FISH)-
the number of chromosomes and specific parts
of chromosomes can be id by karyotyping or by
this process
 Nondisjunction
Abnormalities

 the division is uneven(NONDISJUNCTION)

resulting to 1 sperm/ovum having 24 & the
other 22
 -if this fuses with a normal sperm/ovum, the
zygote will have 47 or 45 chromosomes
 Down’s syndrome(Trisomy 21) increases with
maternal & paternal age
 Turner & Klinefelter syndrome
NON-DISJUNCTION
Deletion Abnormalities
 chromosome disorder in which part of the
chromosome breaks during cell division,
causing the affected person to have the
normal # of chromosomes +/- an extra
portion of a chromosome,
e.g 45.75 or 47.5

 Cri-Du-Chat syndrome(46XY5q-), 1 portion of

chr. 5 is missing
DELETION
 Translocation Abnormalities

• a child gains an additional chromosome

through another route
• TRISOMY 21
TRANSLOCATION ABNORMALITIES
TRANSLOCATION ABNORMALITIES
Mosaicism
• when the nondisjunction
disorder occurs after
fertilization of the ovum, as the
structure begins mitotic cell division

• different cells in the body will

have different chromosome
counts
MOSAICISM
Isochromosomes
chr accidentally divides not by a
vertical separation but by a
horizontal one, a new
chromosome with mismatched
long and short arms can result.
much the same effect as a
translocation
Turner’s syndrome
ISOCHROMOSOMES
GENETIC COUNSELING
Purposes:
 Provide concrete, accurate information: process
of inheritance & inherited disorders
 Allow people to make informed choices about
future reproduction
 Offer support to people who are affected by
genetic disorders
Couples who may benefit include
those:
 who have a child with congenital disorder or an
inborn error of metabolism
 whose close relatives have a child with a genetic
disorder such as translocation disorder or inborn
error of metabolism
 Who are known balanced translocation carriers
 With inborn error of metabolism or chromosomal
disorder
 Who are a consanguineous couple(closely related)
 With the woman older than 35 and the man older
than 55
 Are of ethnic backgrounds in which specific
illnesses are known to occur; Chinese(G6PD,
Mediterranean, thalassemia)
NURSING RESPONSIBILITIES
 Explaining to a couple 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 their wait for test
results
 Assisting couples in values clarification,
planning, and decision-making based on the
results
 *do not impose your own values or opinions
ASSESSMENT FOR GENETIC
DISORDERS
 HISTORY
 Document diseases in family members
 Ethnic background

 Mother’s age, spontaneous miscarriage

PHYSICAL ASSESSMENT
 PE of family member with a disorder,
siblings and the couple
 Check:space between the eyes, height,
contour, shape of ears, number of fingers &
toes, webbing, dermatoglyphics(markings
on skin), abnormal fingerprints, palmar
creases, abnormal hair whorls or hair
coloring
DIAGNOSTIC TESTING

 Karyotyping-sample of peripheral venous

blood or scraping of cells from buccal cavity;
cells are grown to metaphase, stained, placed
under a microscope & photographed( chr are id
according to size, shape & stain)
 *Newer method of staining, FISH, can be done
immediately rather than waiting for
metaphase;
WHAT FISH TESTING IS
FISH stands for fluorescence in
situ hybridisation.
 looks for gene changes in cells.
 FISH tests look for specific genes or
parts of genes.
Maternal Serum Screening- AFP by the fetal
liver that peaks in maternal serum between
the 13th and 32nd week;
 level is elevated with fetal spinal cord disease
 decreased with fetal chromosomal disorder
like Trisomy 21
Chorionic Villi Sampling-
involves retrieval & analysis of
chorionic villi from the growing
placenta for chromosome or DNA
analysis
Amniocentesis- withdrawal of AF
through the abdominal wall for
analysis at the 14th to 16th week
Percutaneous Umbilical Blood
Sampling- or cordocentesis is the
removal of fetal cord blood at 17
weeks using amniocentesis methods
COMMON CHROMOSOMAL
DISORDERS
TRISOMY 13 SYNDROME (47XY13+ OR
47XX13+) OR PATAU SYNDROME

extra chr 13, severely cognitively

challenged
midline body disorders like cleft
lip/palate, heart defects, abn
genitalia, microcephaly,
microphthalmia, low-set ears;
most do not survive beyond early
childhood
TRISOMY 13
Trisomy 18 (47XX18+ or
47XY18+)
they have 3 copies of chr 18
severely cognitively challenged,
SGA, low-set ears, smalljaw,
congenital heart defects, misshapen
fingers & toes, rocker-bottom feet
do not survive beyond early infancy
TRISOMY 18
Cri-du-chat syndrome (46XX5p- or 45XY5p-)

 result of missing portion of chromosome 5

 abnormal cry, small head, wide-set eyes, downward
slant to the palpebral fissure, severely cognitively
challenged
CRI-DU-CHAT
 Turner Syndrome (45XO) or Gonadal dysgenesis
 only 1 functional X chromosome
 short in stature
 streak(small non-functional) ovaries, sterile, &
secondary sex characteristics except for pubic
hair, do not develop during puberty
 hairline at the nape of the neck is low-set
 neck is webbed & short,
 NB may have edema of the hands & feet &
anomalies like CoA & kidney disorders
 learning disabilities
 human growth hormone and estrogen may cause
appearance of sex characteristics
TURNER SYNDROME
Klinefelter Syndrome (47XXY)

 males with extra X chromosome

 puberty, no development of secondary sex
characteristics; small testes with ineffective
sperm, gynecomastia, increased risk for
breast CA
KLINEFELTER SYNDROME
Fragile X Syndrome (46XY23q-)

• most common cause of cognitive challenge in

males
• Xlinked -1 long arm of X chr is defective
• before puberty, boys demonstrate maladaptive
behaviours like hyperactivity or autism, reduced
intellectual functioning with marked deficits in
speech & arithmetic
• large head, long face with high forehead,
prominent lower jaw, large, protruding ears,
hyperextensive joints, cardiac disorders
• after puberty, large testicles;
• fertile
FRAGILE X SYNDROME
DOWN SYNDROME-TRISOMY 21
Down Syndrome (Trisomy 21) (47XY21+ or
47XX21+)

• most frequently occurring

chromosomal abnormality (1 in 800
pregnancies)
TRISOMY 21 SYMPTOMS
• broad & flat nose,
• eyelids have an extra fold of tissue at the inner
canthus(epicanthal fold)
• palpebral fissure tends to slant upward,
• iris may have white specks(Brushfield spots)
• tongue may protrude since the oral cavity is
small,
• back of the head is flat,
 poor muscle tone(rag-doll appearance) that the toe
can touch the nose,
 fingers are short & thick and the little finger is
curved inward,
 wide space between the 1st & 2nd toes & between
the 1st & 2nd fingers, palm of hand has a simian
line
 cognitively-challenged to some degree(50-70%)
 neck is short, extra pad of fat at the base of the
head causes the skin to be loose it can be lifted
easily(puppy’s neck),
Childhood Tumors
Retinoblastoma
Wilm’s tumor
 Neuroblastoma