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Week 11 Framework For Maternal and Child Health Nursing Focusing On at Risk High Risk and Sick Clients
Week 11 Framework For Maternal and Child Health Nursing Focusing On at Risk High Risk and Sick Clients
Week 11 Framework For Maternal and Child Health Nursing Focusing On at Risk High Risk and Sick Clients
Source: Christianson A, Howson CP, Modell B (2006), B. Mendelian Inheritance: Dominant and
March of Dimes (MoD) Global Report on Births Defects, Recessive Patterns
2006: The Hidden Toll of Dying and Disabled Children.
Mendelian Inheritance: Dominant and Recessive
Inherited or genetic disorders are disorders that can Patterns
be passed from one generation to the next. They result • The principles of genetic inheritance of disease
from some disorder in gene or chromosome structure and are the same as those that govern genetic
occur in 5% to 6% of newborns. inheritance of other physical characteristics, such
• Genetics is the study of heredity and the variation as eye or hair color. These principles were
of inherited characteristics discovered and described by Gregor Mendel, an
• Cytogenetics is the study of chromosomes by Austrian naturalist, in the 1800s and are known
light microscopy and the method by which as mendelian laws.
chromosomal aberrations are identified. • Homozygous traits are two like chromosomes
(one from the mother and one from the father)
A. Nature of Inheritance • Heterozygous traits occur when the genes differ
(a healthy gene from the mother and an unhealthy
Nature of Inheritance gene from the father, or vice versa)
• Genes are the basic units of heredity that • Dominant genes are always expressed in
determine both the physical and cognitive preference to the recessive genes. For example,
characteristics of people. It is composed of a gene for brown eyes is dominant over one for
segments of DNA, they are woven into strands in blue eyes which is recessive; a child is born with
the nucleus. a gene for brown eyes and a recessive one for
• Chromosomes are threadlike structures of blue eyes will have brown eyes.
nucleic acids and protein found in the nucleus of • An individual with two homozygous genes for a
most living cells, carrying genetic information in dominant trait is said to be homozygous
the form of genes dominant; an individual with two genes for a
• In humans, each cell, except for the sperm and recessive trait is homozygous recessive.
ovum, contains 46 chromosomes (22 pair of
autosomes and 1 pair of sex chromosomes). Autosomal Dominant Disease
• Spermatozoa and ova each carry only half of the • Although more than 3000 autosomal dominant
chromosome number, or 23 chromosomes. For disorders are known, only a few are commonly
each chromosome in the sperm cell, there is a like seen because the majority of these are not
chromosome of similar size and shape and compatible with life after birth. With an autosomal
function (autosome, or homologous dominant condition, either a person has two
chromosome) in the ovum. Because genes are unhealthy genes (is homozygous dominant) or is
always located at fixed positions on heterozygous, with the gene causing the disease
chromosomes, two like genes (alleles) for every stronger than the corresponding healthy
trait are represented in the ovum and sperm on recessive gene for the same trait.
autosomes. The one chromosome in which this • If a person who is heterozygous for an autosomal
does not occur is the chromosome for dominant trait (the usual pattern) mates with a
determining gender. person who is free of the trait, as shown in Figure
• If the sex chromosomes are both type X (large 1, the chances are even (50%) that a child born
symmetric) in the zygote formed from the union of to the couple would have the disorder or would be
a sperm and ovum, the individual is female. If one disease and carrier free (i.e., carrying no affected
sex chromosome is an X and one a Y (a smaller gene for the disorder).
type), the individual is a male. • Two heterozygous people with a dominantly
• A person’s phenotype refers to his or her inherited disorder are unlikely to choose each
outward appearance or the expression of genes. other as reproductive partners. If they do there
• A person’s genotype refers to his or her actual would be only a 25% chance of a child’s being
gene composition. It is impossible to predict a disease and carrier free, a 50% chance that the
person’s genotype from the phenotype, or child would have the disorder as both parents do,
outward appearance. and a 25% chance that a child would be
• A person’s genome is the complete set of genes homozygous dominant (i.e., have two dominant
present. disorder genes), a condition that probably would
• A normal genome is abbreviated as 46XX or be incompatible with life (Figure 2)
46XY.
chromosome (the X chromosome). There are about 300 has the affected gene on one of her X chromosomes and
known disorders associated this way and their the father is disease-free:
transmission is termed X-linked inheritance. If the affected a. 50% that a male child will manifest the disease
gene is dominant, only one X chromosome with the trait b. 50% that a female child will carry the disease
need be present forsymptoms of the disorder to be gene.
manifested (Fig. 6).
neural tube disorders, hypertension, and mental • Epicanthal fold (eyelids have extra
illness tend to have a higher-than usual incidence fold of tissue at the inner canthus
in some families. They appear to occur from • Slant palpebral fissure
multiple gene combinations possibly combined • Brushfield spots (white specks on the
with environmental factors. iris of the eyes)
• Diseases caused by multiple factors this way do • Protruding tongue and small oral
not follow Mendelian laws because more than a cavity
single gene or human lymphocyte antigen (HLA) • Back of the head is flat, neck is short,
is involved. Their incidence is so unpredictable. A and extra pad of fat the base of the
family history, for instance, may reveal no set head causes the skin to be so loose
pattern. Some of these conditions have a it can be lifted easily and so thin it can
predisposition to occur more frequently in one sex be revealed on a fetal sonogram.
(cleft palate occurs more often in girls than boys), • Low set of ears
but they can occur in eithersex. • Poor muscle tone or rag doll
appearance (toe can touch the nose)
C. Chromosomal Abnormalities (Cytogenic • Short and thick fingers, little finger
Disorders) curved inward
• Wide space between the first and
Chromosomal Abnormalities (Cytogenic Disorders) second toes and between first and
• In some instances of genetic disease, the second fingers
abnormality occurs not because of dominant or • Simian line (single crease in the
recessive gene patterns but through a fault in the palm)
number or structure of chromosomes which
• Cognitively challenged from an IQ of
results in missing or distorted genes. When
50 to 70 or less than 20
chromosomes are photographed and displayed,
• Small head size
the resulting arrangement is termed a karyotype.
• Congenital heart disease:
atrioventricular defect
Nondisjunction Abnormalities
• Stenosis or atresia of the duodenum
• Meiosis is the type of cell division in which the
number of chromosomes in the cell is reduced to • Strabismus and cataract
the haploid (half) number for reproduction (i.e., 23 • Altered immune function: prone to
rather than 46 chromosomes). upper respiratory tract infection
• All sperm and ova undergo a meiosis cell division • Tends to develop acute lymphocytic
early in formation. The cell then divides cleanly, leukemia
with 23 chromosomes in the first new cell and 23 • Life span is limited to 50 to 60 years
chromosomes in the second new cell. (aging seemsto occur faster than
• Chromosomal abnormalities occur if the division usual)
is uneven (nondisjunction). The result may be ii. Management of children with trisomy 21
that one new sperm cell or ovum has 24 • Early educational and play programs
chromosomes and the other has only 22. If a so they can develop to their full
spermatozoon or ovum with 24 or 22 capacity.
chromosomes fuses with a normal spermatozoon • Good handwashing since they are
or ovum, the zygote (sperm and ovum combined) prone to infection.
will have either 47 or 45 chromosomes, not the • Feed slowly. The enlarged tongue
normal 46. may interfere with swallowing and
• The following are the chromosomal abnormalities cause choking
because of nondisjunction. • Physical examination at birth to
a. Down Syndrome / Trisomy 21 syndrome enable the detection of the genetic
(47XY21+ OR 47XX21+) disorder and the initiation of parental
i. Trisomy 21, the most frequently counseling, support and future
occurring chromosomal disorder, occurs planning.
in about 1 in 800 pregnancies. In women b. Patau syndrome / Trisomy 13 syndrome
who are older than 35 years of age, the (47XY13+ OR 47XX13+)
incidence is as 1 in 100 live births. The i. In trisomy 13, the child has an extra
physical features of children with Down chromosome 13 and is severely
syndrome are: cognitively challenged. The incidence of
• Broad and flat nose the syndrome is low, approximately 0.45
per 1,000 births. Common findings are:
information, the couple can make an informed • Obtain as much as information by letting
reproductive choice about children. the couple describe the appearance or
• Any individual who is a known carrier of activities of affected individual or asking
chromosomal disorder. Understanding of his or permission to obtain health records
her own chromosome structure and the process • Obtain an extensive prenatal history of
by which future children could be affected can any affected person whether
help such an individual make an informed choice environmental conditions could account
about reproduction or can alert him or her to the for the condition.
importance of fetal karyotyping during any future • Draw a family genogram to identify the
pregnancy. possibility of a chromosomal disorder
• Any individual who has an inborn error of occurring in a particular couple’s children
metabolism or chromosomal disorder. Any and identify other family member who
person with a disease should know the might benefit from genetic counseling.
inheritance pattern of the disease and, like those 2. Physical Assessment
who are balanced translocation carriers, should Because genetic disorders often occur in
be aware if prenatal diagnosis is possible for his varying degrees of expression, a careful physical
or her particular disorder. assessment of any family member with a
• A consanguineous (closely related) couple. The disorder, that child’s siblings, and the couple
more closely related are two people, the more seeking counseling is needed. During inspection,
genes they have in common, so the more likely it pay particular attention to certain body areas,
is that a recessively inherited disease will be such as:
expressed. A brother and sister, for example, • the space between the eyes
have about 50% of their genes in common; first • the height, contour, and shape of ears
cousins have about 12% of their genes in • the number of fingers and toes, and the
common. presence of webbing.
• Any woman older than 35 years and any man • Dermatoglyphics (the study ofsurface
older than 55 years. This is directly related to the markings of the skin) can also be helpful.
association between advanced parental age and • abnormal fingerprints or palmar creases
the occurrence of Down syndrome. • abnormal hair whorls or coloring of hair
• Couples of ethnic backgrounds in which specific can also be present.
illnesses are known to occur. Mediterranean Careful inspection of newborns is often
people, for example, have a high incidence of sufficient to identify a child with a potential
thalassemia, a blood disorder; those with a chromosomal disorder. Infants with multiple
Chinese ancestry have a high incidence of congenital anomalies, those born at less than 35
glucose-6- phosphate dehydrogenase (G6PD) weeks’ gestation, and those whose parents have
deficiency, a blood disorder where destruction of had other children with chromosomal disorders
red cells can occur. need extremely close assessment.
3. Screening and Diagnostic Testing
NURSING PROCESS FOR GENETIC ASSESSMENT • Many diagnostic tests are available to
AND COUNSELLING provide important clues about possible
disorders. Before pregnancy, DNA
A. Assessment for Genetic Disorders analysis or karyotyping of both parents
and an already affected child provides a
Assessment for Genetic Disorders picture of the family’s genetic pattern and
Genetic assessment begins with careful study of the can be used for prediction in future
pattern of inheritance in a family. A history, physical children. Once a woman is pregnant,
examination of family members, and laboratory analysis, several other tests may be performed to
such as karyotyping or DNA analysis, are performed to help in the prenatal diagnosis of genetic
define the extent of the problem and the chance of disorder (Table 3 and Table 4). During
inheritance. first trimester, women are offered a
1. History routine sonogram screening (a nuchal
• Diseases in family members for a translucency scan) and an analysis of
minimum of three generations (include maternal serum levels of alpha
half brother and sisters or anyone related fetoprotein (MSAFP), pregnancy-
in any way as family) associated plasma protein A (PAPP-A),
• Document whether the parents are and free beta hCG to evaluate for
consanguineous or related to each other chromosomal disorders in the fetus.
• Include family’s ethnic back ground Additionally, women over the age of 35
E. Outcome Evaluation