Maternal and Child Health Nursing

NCM 107 CMO 15

JOANNE MARIE S. GARCIA, RN, MAN

Genetic Disorders
 Facts
• 1 in 20 newborns has an inherited genetic
disorder

• Over 30% of pediatric admissions are for

genetic-influenced disorders
 Genetic Disorders
• Inherited or genetic disorders
-disorders that can be passed from one
generation to the next

• Genetics
-Study of why disorders occur
 Nature of Inheritance

• In humans, each cell, with the exception of the

sperm and ovum, contains 46 chromosomes
(44 autosomes and 2 sex chromosomes) in the
nucleus

• Each chromosome contains thousands of

genes
• Sex chromosomes 46XX: female
46XY: male
 Nature of Inheritance

• Genes
– Basic units of heredity; structures
responsible for hereditary characteristics
– May or may not be expressed or passed to the
next generation
– According to Mendel’s Law, one gene for each
hereditary property is received from each parent;
one is dominant (expressed); one is recessive
Karyotype
• Chromosomal pattern of a cell including genotype,
number of chromosomes and normality or
abnormality of the chromosomes

Genotype
• Actual gene composition; Sequence and
combination of genes on a chromosome

Phenotype
• Outward appearance or observable expression
of genes (hair color, eye color, body build, allergies)
Alleles
• Pairs of genes located on the same site on
paired chromosomes
• Homozygous alleles (DD or dd)
• Heterozygous alleles are two different
alleles for the same trait (Dd)
CONGENITAL and GENETIC are not synonymous

• Congenital - present at birth because of

abnormal development in utero (teratology)

• Genetic – pertains to genes or chromosomes;

some genetic disorders may be noticeable at
birth and others may not appear for decades
 Dominant and Recessive Patterns

• Homozygous - a person who has 2 like genes

for a trait (eg, blue eyes: 1 from the mother
and 1 from the father)

• Heterozygous – if the genes differ (eg, 1 gene

for blue eyes from the mother, 1 gene for
brown eyes from the father)
 Dominant and Recessive Patterns

• Dominant genes – genes which are expressed

in preference to others

• Recessive genes – genes that are not

dominant
• Homozygous dominant - an individual with 2
homozygous genes for a dominant trait

• Homozygous recessive – an individual with 2

homozygous genes for a recessive trait
Their children have a 100% chance of being
heterozygous for the trait.
Phenotype – brown eyed (phenotype) ; but
they will carry a recessive gene for blue eyes in
their genotype.
The child will have an equal chance of being
brown eyed (50%) or blue eyed (50%).
All the children will be brown- eyed. Chances
are equal that their children will be
homozygous dominant (50%) like the father or
heterozygous (50%) like the mother.
Both parents are heterozygous. 25% chance of
their children being homozygous recessive
(blue-eyed), 50% chance of being
heterozygous (brown eyed) and a 25% chance
of being homozygous dominant (brown eyed).
 Inheritance of Disease
Mendelian or Single gene disorders
A. Autosomal disorders
1. Autosomal dominant disorders
2. Autosomal recessive disorders
B. Sex – linked disorders
1. X-linked dominant inheritance
2. X-linked recessive inheritance
Multifactorial inheritance
Chromosomal aberrations or abnormalities
 Autosomal disorders
• Occur in any chromosome pair other than the
sex chromosomes
• Result from a single altered gene or a pair of
altered genes on one of the first 22 pairs of
autosomes
• Autosomal dominant or
Autosomal recessive
 Autosomal dominant traits
• Those in which the abnormal gene dominates
the normal gene; thus, the condition is always
demonstrated when the abnormal gene is
present.
• The affected parent has a 50% CHANCE OF
PASSING ON THE ABNORMAL GENE IN EACH
PREGNANCY.
Autosomal dominant traits
 Autosomal dominant
• Osteogenesis imperfecta (bones are exceedingly brittle)
• Marfan syndrome (disorder of connective tissue; child is thinner
and taller than normal; heart defects)
• Huntington’s disease
• Neurofibromatosis
• Achondroplasia (dwarfism)
 Family pedigrees findings
(Autosomal dominant )

• 1 of the parents of the child with the disorder

also has the disorder
• The sex of the affected individual in
unimportant in terms of inheritance
• History of the disorder in other family members
 Autosomal recessive traits
• Require transmission of the abnormal gene from both parents for
demonstration of the defect in the child
• Each child has a 50% CHANCE OF BEING A CARRIER OF THE
DISORDER
• Almost all carriers are free from symptoms
 Autosomal recessive
• Albinism
• Sickle cell anemia (chronic intensely painful
episodes caused by obstruction of blood vessels
by odd-shaped RBC’s; precipitated by
dehydration, infection, exposure to cold,
trauma, fatigue, lack of oxygen, strenuous
physical activity)
- The primary nursing action in caring for an
adolescent in sickle cell crisis is directed at
maintaining adequate hydration
- the spleen usually becomes enlarged due to
congestion and engorgement with sickled cells
 Autosomal recessive
• Cystic fibrosis (multiple organ disease; the
primary pathophysiologic mechanism in cystic
fibrosis mucus buildup in the lungs and
pancreas; steatorrhea; azotorrhea)
• Inborn errors of metabolism (disorders caused
by the absence of or defect in enzymes that
metabolize proteins, fats or carbohydrates)
• Phenylketonuria or PKU (phenylalanine
hydroxylase) – brain damage and mental
retardation
• Tay Sach’s disease (hexosaminidase)- child is
attentive, passive and regresses in motor and
social development
GROUP Disorder

Blacks/ African Sickle cell

Americans Anemia
Northern European Tay-Sachs
descendants of disease
Ashkenazic Jews
Caucasian/ Non- Cystic fibrosis
Hispanic
Mediterranean Thalassemia
 Family pedigrees findings
(Autosomal recessive)
• Both parents of a child with the disorder are clinically free of the
disorder
• The sex of the affected individual in unimportant in terms of
inheritance
• History of the disorder in the family is negative
• A known common ancestor between the parents sometimes
exists. This is how both male and female have come to possess a
like gene for the disorder.
 X-linked disorders
• Result from an altered gene on the X chromosome
• May be dominant or recessive; recessive is more common
 Family pedigrees findings
(X-linked dominant)
• All individuals with the gene are affected
• Female children of affected men are all affected; male children of
affected men are unaffected
• It appears in every generation
• All children of homozygous affected women are affected.
• EXAMPLE: Hypophosphatemia
 X- linked recessive
• More common
• Mother is the carrier of the disorder
• In female children, expression of the disease is blocked
• In male children, disease will be manifested
 Family pedigrees findings
(X-linked recessive)
• Only males will have the disorder
• A history of girls dying at birth for unknown reasons often exists
• Sons of an affected man are unaffected
• The parents of affected children do not have the disorder
 X-linked recessive
• Hemophilia
• Color blindness
• Duchenne-type muscular dystrophy
• Christmas disease
• Fragile X syndrome
 Multifactorial inheritance
• Abnormalities caused by multifactorial reasons which do not
follow the mendelian laws of inheritance because more than a
single gene is involved
• Environmental influences may be instrumental in determining
whether the disorder is expressed
• Difficult to counsel parents regarding these disorders because
their occurrence is unpredictable
 Multifactorial inheritance
• Cleft lip or palate
• Neural tube disorders
• Mental illness
• Pyloric stenosis
• Hypertension
• Heart disease
• diabetes
 Genetic Counseling
• Purposes
– Provide accurate information
– Provide reassurance
– Make informed choices
– Educate people about disorders
– Offer support
 Nursing Responsibilities
• Alert couple to what procedures they can expect to undergo
• Explain how genetic screening tests are done and when they are
offered
• Assess for signs and symptoms of genetic disorders
• Offer support
• Assist in value clarification
• Educate on procedures and tests
 Assessing for Genetic Disorders
• History
• Physical assessment

Diagnostic testing
• Karyotyping – visual presentation of
chromosomes (sample: peripheral venous
blood; scraping of cells from buccal membrane)
• Barr body determination – if a child is born with
ambiguous genitalia; scraping of cells from
buccal membrane; stained and magnified;
presence of nondominant X chromosome in
the nucleus- Barr body (chromosomally female)
 Assessing for Genetic Disorders
AFP analysis
• alpha fetoprotein (AFP) is a glycoprotein produced by
the fetal liver
• AFP level in the amniotic fluid or maternal serum will
differentiate from normal if a chromosomal or a spinal
cord disorder is present (eg, in mothers who have
gestational diabetes; infants 10x risk of having a neural
tube defect)
• Serum test is done at 15th week of pregnancy; if result
is abnormal, amniotic fluid will be assessed
• elevated 3-5x in amniotic fluid secondary to leakage
from open neural tube
• low AFP, < 5% Down syndrome
• maternal serum AFP has a false positive rate 30%; use
of triple study (AFP, estriol and hCG) reduces false
positive rate
 Assessing for Genetic Disorders
Chorionic villi sampling
• Retrieval and analysis of chorionic villi for chromosome analysis
• Transcervical or transabdominal; may be done as early as 5
weeks, but more commonly done at 8-10 weeks of pregnancy
• Risks: bleeding/ loss of pregnancy; limb reduction syndrome;
infection
• Diagnosis of Sickle cell disease, thalassemia
Chronic villi sampling
Assessing for Genetic Disorders
Amniocentesis
• Withdrawal of amniotic fluid from the
abdominal wall for analysis at 14th to 16th
week of pregnancy
• May include karyotyping, analysis of AFP and
acetylcholinesterase
• Used to diagnose potential genetic problems
in the fetus (Down Syndrome), to estimate
fetal lung maturity or to diagnose fetal
hemolytic disease
Amniocentesis
 Assessing for Genetic Disorders
Percutaneous umbilical blood sampling
• removal of blood from the umbilical cord using an amniocentesis
technique
• more rapid karyotyping

Sonography/ Fetal imaging

• assess fetus for general size and structural disorders of the
internal organs, spine and limbs
• may be used concurrently with amniocentesis
 Percutaneous
umbilical blood sampling
Fetoscopy
• insertion of a fiberoptic fetoscope through a
small incision in the mother’s abdomen into the
uterus and membranes to inspect the fetus for
gross abnormalities
• can be used to confirm sonography finding,
remove skin cells for DNA analysis or perform
surgery for a congenital defect

Preimplantation diagnosis
• may be possible in the future
• to remove the fertilized ovum from the uterus
before implantation for biopsy or cell analysis
 Legal and Ethical Aspects

• Participation must be elective

• Informed consent
• Results must be interpreted correctly
• Confidentiality must be maintained
• Participation must be a free and individual decision
Common Chromosomal Disorders
• Detected at birth on physical examination
• Most common are nondisjunction syndromes
• Many of these disorders leave children
cognitively challenged
 1. Trisomy 13 syndrome
(Patau syndrome)
• Children have extra chromosome 13
• Severely cogitively challenged
• Incidence is low, .45 per 1,000 live births
• Midline body disorders present, microcephaly,
with abnormalities of the forebrain and forehead
• Eyes are smaller than normal (microphthalmos) or
absent
• Cleft lip and palate
• Low set ears
• Heart defects, VSD
• Abnormal genitalia
• Most do not survive beyond early childhood
 2. Trisomy 18 syndrome

• 3 Number 18 chromosomes
• Severely cognitively challenged
• Incidence .23 per 1,000 live births
• Small for gestational age (SGA)
• Low set ears, small jaw, congenital heart defects, misshapen
fingers and toes (Index deviates or crosses over other fingers)
• Soles of the feet are rounded not flat (rocker-bottom feet)
• Do not survive beyond early infancy
 3. Cri-du-chat syndrome

• Result of a missing portion of chromosome 5

• Abnormal cry – like a sound of a cat
• Small head, wide-set eyes, downward slant to the palpebral
fissure of the eye
• Severely cognitively challenged
 4. Turner syndrome
- female with only 1 X chromosome
• Gonadal dysgenesis, 45XO
• Has only 1 functional X chromosome
• Short in stature
• Hairline at the nape is low set
• Neck may appear webbed and short
• May have edema of the hands and feet
• Congenital anomalies, eg, coarctation (stricture) of the aorta;
kidney disorders
• Streak (small and nonfunctional) gonads; may have pubic
hair in puberty, no other secondary characteristics
• Incidence is 1 per 10,000 live births
• On karyotyping, 1 X chromosome only (no Barr body
present)
• Lack of fertility; learning disabilities; socioemotional
problems
• Growth hormone may help achieve additional height;
Estrogen may induce withdrawal bleeding
 5. Klinefelter syndrome
- male with an extra X chromosome

• Males with XXY chromosome pattern (47XXY) –may be revealed

by karyotyping
• At puberty – poorly developed secondary characteristics; small
testes that produce ineffective sperm- often infertile
• Usually of normal intelligence or have mental retardation
• Gynecomastia
• Incidence is about 1 per 1,000 livebirths
 6. Fragile X syndrome
• X linked, 1 long arm of the X chromosome is defective
• 1 in 1,000 livebirths
• Most common cause of cognitive challenge in boys
• Before puberty – maladaptive behaviors: hyperactivity
and autism
• Reduced intellectual functioning (speech and
arithmetic)
• Large head, long face with a high forehead, prominent
lower jaw, large protruding ears
• Hyperextensive joints, cardiac disorders
• After puberty – enlarged testicles; fertile
• Folic acid and phenothiazine may improve symptoms
of poor concentration and impulsivity; intellectual
function cannot be improved
 7. Down syndrome (trisomy 21)

• Most frequent; 1 in 800 live births

• In pregnancy of women >35 years (1 in 100 live
births); paternal age > 55
• Diagnosis may be possible by sonography in
utero
• Nose is broad and flat; epicanthal fold;
palpebral fissure tends to slant upward; iris of
the eyes may have white speck in it (Brushfield
spots); tongue may be protruding; back of the
head is flat; short neck; extra apd of fat at the
base of the head; low-set ears; poor muscle
tone;simian crease on palm
• Cognitively challenged; educable (IQ 50 – 70) to
profound MR (IQ< 20)
• Prone to upper respiratory infections
• Congenital heart disease (atrioventricular defects)
• Stenosis/ atresia of the duodenum
• Strabismus; cataract disorders
• Acute lymphocytic leukemia
• Lifespan: 40 – 50 years
• Should be exposed to educational and play opportunities