Maternal & Child Health Nursing ►Each chromosome contains thousands of genes

NCM - 101
GENETICS ►Sex chromosomes 46 XX: female
46 XY: male
 Genetics is the study of genes. Our genes
carry information that gets passed from one
generation to the next. For example, genes are Normal Female Karyotype
why one child has blonde hair like their mother,
while their sibling has brown hair like their
father.
 Genetics is the study of the way such disorders
occur

Genes & Chromosomes

 The hereditary material carried in the nucleus
of each somatic (body) cell determines an
individual’s physical characteristics. This
material is called DEOXYRIBONUCLEIC ACID
(DNA).
 Each forms threadlike strands known as
CHROMOSOMES
 Each chromosome is composed of many
smaller segments of DNA referred to as
GENES
 Genes or combination of genes contain coded Normal Male Karyotype
information contain coded information that
determines an individual’s unique
characteristics
Genetic Assessment & Counseling
Assessment measure for genetic disorders begin
with:
 a detailed family history, preferably of 3
generations
 A physical examination of both parents and
any affected children
 Series of laboratory assays of blood, amniotic
fluid & maternal & fetal cells

Genetics Disorders

FACTS
►1 in 20 newborns has an inherited genetic Nature of Inheritance
disorder Genes
►Over 30% of pediatric admissions are for genetic-  Basic units of heredity; structures responsible
influenced disorders for hereditary characteristics
 May or may not expressed or passed to the
Genetic disorders next generation
►Inherited or genetic disorders  According to Mendel’s Law, one gene for each
- disorders that can be passed from one generation hereditary property is received from each
to the next parent; one is dominant (expressed); one is
recessive
►Genetics
- Study of why disorders occur Karyotype
-Chromosomal pattern of a cell including genotype,
Nature of Inheritance number of chromosomes & normality or
►In humans, each cell, with the exception of the abnormality of the chromosomes.
sperm & ovum, contains 46 chromosomes (44 It is a pictorial analysis of the number, form & size
autosomes and 2 sex chromosomes) in the nucleus of an individual’s chromosome
Genotype
 Actual gene composition  Homozygous dominant – an individual with 2
 Sequence & combination of genes on a homozygous genes for a dominant trait
chromosome
 Homozygous recessive – an individual with 2
Phenotype homozygous genes for a recessive trait
 Outward appearance or observable expression
of genes(hair color, eye color, body build, Their children have a 100% chance of being
allergies) heterozygous for the trait.
Phenotype – brown eyed (phenotype); but they will
Alleles carry a recessive gene for blue eyes in their
 Pairs of genes located on the same site on genotype
paired chromosomes
 Homozygous alleles (DD or dd)
 Heterozygous alleles are two different alleles
for the same trait (Dd)

A person’s genome is the complete set of gene

present (about 50,000 to 100,000). A normal
genome is abbreviated as 46XX or 46XY

If chromosomal aberration exist, it is listed after

the sex chromosome pattern. In such abbreviations,
the letter p stands for short arm disorders & q
stands for long arm disorders.

Example :
46XX5p- female w/ 46 total chromosomes but with
the short arm of chromosome 5 missing (cri-du-
chat syndrome) The child will have an equal chance of
47XX21+ - female with extra chromosome 21 Being brown eyed (50%) or blue eyed (50%).
(Down’s syndrome)

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 & others may not appear for decades

Mendelian Inheritance: Dominant and Recessive

Patterns

 Homozygous – a person who has 2 like genes All the children will be brown eyed. Chances are
for a trait (eg, blue eyes: 1 from the mother & 1 equal that their children will be homozygous
from the father) dominant (50%) like the father or heterozygous
(50%) like the mother
 Heterozygous – if the genes differ (eg,1 gene
for blue eyes from the mother & 1 gene from
brown eyes from the father)

Dominant and Recessive Patterns

 Dominant genes – genes which are expressed

in preference for others

 Recessive genes – genes that are not dominant

 Autosomal Dominant Traits
Both parents are heterozygous. 25% chance of their
children being homozygous recessive (blue-eyed),
50% chance of being heterozygous (brown-eyed)
and a 25% of being homozygous dominant (brown-
eyed).

Inheritance of Disease Autosomal dominant

 Osteogenesis imperfecta (bones are
 Mendelian or Single gene disorder exceedingly brittle)
A. Autosomal disorders  Marfan Syndrome (disorder of connective
1. autosomal dominant disorders tissue; child is thinner & taller than normal;
2. autosomal recessive disorders heart defects)
B. Sex-linked disorders  Huntington’s disease
1. X-linked dominant inheritance  Neurofibromatosis
2. X-linked recessive inheritance  Achondroplasia (dwarfism)

 Multifactoral inheritance Family pedigrees findings

 Chromosomal aberrations or abnormalities (Autosomal dominant)

Autosomal Disorders 1 of the parents of the child with the

 Occur in any chromosome pair other than the disorder also has the disorder
sex chromosomes
 Result from a single altered gene or a pair of The sex of the effected individual in
altered genes on one of the first 22 pairs of unimportant in terms of inheritance
autosomes
 Autosomal dominant or History of the disorder in other family
 Autosomal recessive members

Autosomal dominant traits Autosomal recessive traits

 Those in which the abnormal gene dominates Require transmission of the abnormal gene from
the normal gene; thus, the condition is always both parents for the demonstration of the defect in
demonstrated when the abnormal gene is the child
present.
Each child has a 50% CHANCE OF BEING A
 The affected parent has a 50% CHANCE OF CARRIER OF THE DISORDER
PASSING ON THE ABNORMAL GENE IN
EACH PREGNANCY
Almost all carriers are free from symptoms
Caucasian/Non- Cystic fibrosis
Hispanic

Mediterranean Thalassemia

Family pedigrees findings

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
 Maybe dominant or recessive; recessive is
more common
Autosomal recessive Family pedigrees findings
Albanism (X-Linked dominant)
Sickle cell anemia (chronic intensely painful  All individuals with the gene are affected
episodes caused by obstruction of blood vessels by  Female children of affected men are all affected;
odd shaped RBC’s; precipitated by dehydration, male children of affected men are unaffected
infection, exposure to cold, trauma, fatigue, lack of  It appears in every generation
oxygen, strenuous physical activity)  All children of homozygous affected women are
-The primary nursing action in caring for an affected
adolescent in sickle crisis is directed at maintaining  Example: Hypophosphatemia
adequate hydration
- The spleen usually enlarged due to congestion
and engorgement with sickled cells

Cystic fibrosis (multiple organ disease; the

primary pathophysiologic mechanism in cystic
fibrosis mucus build up 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
reterdation
 Tay Sach’s disease (hexosaminidase)- child is X – linked recessive
attentive, passive and regresses in motor &  More common
social development  Mother is the carrier of the disorder
 In female children, expression of the disease is
GROUP DISORDER blocke
Blacks/African Sickle cell anemia  In male children, disease is manifested
Americans

Northern European Tay-Sach’s disease

Descendants of
Ashkenazic Jews
Family pedigrees findings Genetic Counseling
(X-Linked recessive) Purpose:
 Only males have the disorder  provide accurate information about the process
 A history of girls dying at birth for unknown of inheritance & inherited disorders
reason often exists  provide reassurance for those concerned that
 Sons of an affected man are unaffected their child may inherit a particular disorder
 The parents of affected children do not have that the disorder may not occur
the disorder  make informed choices about future
reproduction for people affected with inherited
disorders
X-linked recessive  educate people about disorders. Allow people
 Hemophilia to pursue potential interventions like fetal
 Color blindness surgery, that may exist or to begin preparation
 Duchenne-type muscular dystrophy for a child with special needs
 Christmas disease  offer support
 Fragile X syndrome
Nursing Responsibilities
 alert couple of what procedures they can expect
to undergo
 explain how genetic screening test are done
and when they are offered
 assess for signs & 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)
Multifactoral inheritance  Barr body determination-if a child is born
 Abnormalities caused by multifactoral reasons with ambiguous genitalia; scraping of cells
which do not follow the Mendelian laws of from buccal membrane; stained & magnified;
inheritance because more than a single gene is presence of non-dominant X chromosome in
involved the nucleus-Barr body (chromosomally female)
 Combination of genetic & environmental Assessing for Genetic Disorders
factors  AFP analysis
-alphafetoprotein (AFP) is a glycoprotein
 Environmental influences maybe instrumental produced by the liver of the fetus
in determining whether the disorder is -AFP level in the amniotic fluid or maternal
expressed serum will differentiate from normal if a
chromosomal or a spinal cord disorder is present
 Difficult to counsel parents regarding these (eg, mothers with gestational diabetes; infants 10x
disorders because their occurrence is risk of having a neural tube defect)
unpredictable -serum test is done at 15 week of pregnancy; if
result is abnormal, amniotic fluid is assessed
Multifactoral inheritance -elevated 3-5x in amniotic fluid secondary to
 Cleft lip or palate leakage from open neural tube
 Neural tube disorders -low AFP, < 5% Downs syndrome
 Mental illness -maternal serum AFP has a false positive rate
 Pyloric stenosis 30%; use of triple study (AFP, estriol, hcg) reduces
 Hypertension false positve rate
 Heart disease
 Diabetes
Assessing for Genetic Disorders Assessing for Genetic Disorders
 Chorionic villi sampling  Percutaneous umbilical blood sampling
 Retrieval and analysis of chorionic villi for -removal of blood from the umbilical cord using an
chromosome analysis amniocentesis technique
 Transcervical or transabdominal; maybe done -more rapid karyotyping
as early as 5 weeks, but more commonly done
at 8-10 weeks  Sonography/Fetal imaging – assess fetus for
 Risks: bleeding/loss of pregnancy;limb general size and structural disorders of the
reduction syndrome; infection internal organs, spine and limbs
 Diagnosis of sickle cell disease, thalassemia -maybe used concurrently with amniocentesis

Percutaneous umbilical blood sampling

Chorionic Villi Sampling

 Fetoscopy – insertion of fiberoptic fetoscope

Assessing for Genetic Disorders through a small incision in the mother’s
abdomen into the uterus and membranes to
Amniocentesis inspect the fetus for gross abnormalities
 withdrawal of amniotic fluid from the - can be used to confirm sonography finding,
abdominal wall for analysis at 14th to 16th remove skin cells for DNA analysis or perform
week surgery for a congenital defect
 may include karyotyping, analysis of AFP and
acetylcholinesterase  Preimplantation diagnosis – maybe
 used to diagnose potential genetic problems in possible in the future
the fetus (Down syndrome), to estimate fetal - to remove the fertilized ovum from the uterus
lung maturity or to diagnose fetal hemolytic before implantation for biopsy or cell analysis
disease
Legal and Ethical aspects
Amniocentesis  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

Common Chromosomal Disorders

1. Trisomy13 Syndrome (Patau syndrome)
47XX13+ or 47XY13+
-children have extra chromosome 13
-severely cognitively challenged
-incidence is low, .45 per 1,000 live births
-midline body disorders present, microcephaly,
with abnormalities of the forebrain & forehead 3. Cri-Du-Chat Syndrome 46XX5p- or
-cleft lip & palate 46XY5p-
-low set ears -result of a missing portion of chromosome 5
-heart defects, VSD -abnormal cry – like a sound of a cat
-abnormal genitalia -small head, wide-set ears, downward slant to the
-most do not survive beyond early childhood palpebral fissure of the eyes
-severely cognitively challenged

4. Turner syndrome 45 XO
2. Trisomy 18 syndrome 47XX18+ or -gonadal gysnesis,
47XY18+ -has only 1 functional X chromosome
Edwards Syndrome -short in stature, small & non-functional ovaries
-3 copies of chromosome 18 -hairline at the nape is low set
-severely cognitively challenged -neck may appear webbed and short
-incidence .23 per 1000 live births -may have edema of the hands and feet
-small for gestational age (SGA) -congenital anomalies eg, coarctationof the aorta;
-low set ears, small jaw, congenital heart defects, kidney disorders
misshapen fingers& toes -may have pubic hair in puberty; no other
-soles of the feet are rounded not flat (rocker- secondary characteristics
bottom feet) -incidence is 1 per 10000 live births
- Most don’t survive beyond early infancy -on karyotyping, 1 X chromosome only (no Barr
body present)
-lack of fertility; learning abilities; socioemotional
problem
-growth hormone may help achieve additional
height; estrogen may induce withdrawal bleeding
5. KLINEFELTER SYNDROME 47XXY  Palpebral fissure (opening bet. The eyelids)
 BIOLOGIC MALE tends to slant laterally upward
 X-linked disorder (one long arm of X  Protruding tongue, neck is short
chromosome is defective)  Low set ears, poor muscle tone
 1 in 4,000 biologic males  Semian crease, cognitively challenged,
 Before puberty, may demonstrate maladaptive congenital heart disease
behaviors like hyperactivity, aggression &
autism
 Reduced intellectual functioning with marked
deficits in speech & mathematics
 Physically, large head, long face with high
forehead, prominent jaw, large protruding ears
& obesity
 Hyperextensive joints & cardiac disorders
maybe present
 After puberty, enlarged testicles, they are
fertile and can reproduce
Klinefelter Syndrome

Down Syndrome (Trisomy 21) 47XY21+ or

47XX21+
 Incidence is high who are pregnant older than
35 y/o
 Incidence: 1 in 800 pregnancies
 Nose is broad & flat
 Eyelids have extra fold of tissue at the inner
canthus