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Care of Mother and Child at Risk or With Problems (Acute and Chronic)
Care of Mother and Child at Risk or With Problems (Acute and Chronic)
Cognitive:
1. Describe the nature of inheritance, patterns of recessive and dominant mendelian inheritance,
and common chromosomal aberrations that cause physical or cognitive disorders.
2. Identify National Health Goals related to genetic disorders.
3. Use critical thinking to analyze ways that can make genetic assessment or education more
family centered.
4. Integrate knowledge of genetic inheritance with nursing process to achieve quality maternal
and child health nursing care.
Affective:
• Listen attentively during class discussions
• Demonstrate tact and respect when challenging other people’s opinions and ideas
• Accept comments and reactions of classmates on one’s opinions openly and graciously.
• Develop heightened interest in studying Maternal and Child Nursing.
Psychomotor:
1. Participate actively during online class discussions and group activities
2. Express opinion and thoughts in online classes
Flagg (2018). Maternal and Child Health Nursing: Care of the Childbearing and Childrearing Family.
Wolters Kluwer.
Nature of Inheritance
Genes are the basic units of heredity that determine both the physical and cognitive characteristics
of people. Composed of segments of DNA (deoxyribonucleic acid), they are woven into strands in the
nucleus of all body cells to form chromosomes. In humans, each cell, except for the sperm and ovum,
contains 46 chromosomes (22 pair of autosomes and 1 pair of sex chromosomes). Spermatozoa and
ova each carry only half of the chromosome number, or 23 chromosomes. For each chromosome in
the sperm cell, there is a like chromosome of similar size and shape and function (autosome, or
homologous chromosome) in the ovum. Because genes are always located at fixed positions on
chromosomes, two like genes (alleles) for every trait are represented in the ovum and sperm on
autosomes. The one chromosome in which this does not occur is the chromosome for determining
gender. If the sex chromosomes are both type X (large symmetric) in the zygote formed from the
union of a sperm and ovum, the individual is female. If one sex chromosome is an X and one a Y (a
smaller type), the individual is a male. A person’s phenotype refers to his or her outward appearance
or the expression of genes. A person’s genotype refers to his or her actual gene composition. It is
impossible to predict a person’s genotype from the phenotype, or outward appearance. A person’s
genome is the complete set of genes present (about 50,000 to 100,000). A normal genome is
abbreviated as 46XX or 46XY (designation of the total number of chromosomes plus a graphic
description of the sex chromosomes present).
Inheritance of Disease
1. Autosomal Dominant Disorders
With an autosomal dominant condition, either a
person has two unhealthy genes (is homozygous
dominant) or is heterozygous, with the gene causing
the disease stronger than the corresponding healthy
recessive gene for the same trait. If a person who is
heterozygous for an autosomal dominant trait (the
usual pattern) mates with a person who is free of the
trait, the chances are even (50%) that a child born
to the couple would have the disorder or would be
disease and carrier free (i.e., carrying no affected
gene for the disorder). Two heterozygous people
with a dominantly inherited disorder are unlikely to
choose each other as reproductive partners. If they
do, however, their chances of having children free
from the disorder decline. There would be only a
25% chance of a child’s being disease and carrier
free, a 50% chance that the child would have the
disorder as both parents do, and a 25% chance that
a child would be homozygous dominant (i.e., have
two dominant disorder genes), a condition that probably would be incompatible with life.
In assessing family genograms (maps of family relationships) for the incidence of inherited
disorders, a few common findings are usually discovered when a dominantly inherited pattern
is present in a family:
• One of the parents of a child with the disorder also will have the disorder (a vertical
transmission picture).
• The sex of the affected individual is unimportant in terms of inheritance.
• There is usually a history of the disorder in other family members.
2. Autosomal Recessive Inheritance
These inheritances tend to be biochemical or enzymatic. Such diseases do not occur unless
two genes for the disease are present. Examples include cystic fibrosis, adrenogenital
syndrome, albinism, Tay-Sachs disease, galactosemia, phenylketonuria, limb-girdle muscular
dystrophy, and Rh factor incompatibility.
When family genograms are assessed for the incidence of inherited disease, situations
commonly discovered when a recessively inherited disease is present in the family include:
• Both parents of a child with the disorder
are clinically free of the disorder.
• The sex of the affected individual is
unimportant in terms of inheritance.
• The family history for the disorder is
negative—that is, no one can identify
anyone else who had it (a horizontal
transmission pattern).
• A known common ancestor between the
parents sometimes exists. This explains
how both male and came to possess a
like gene for the disorder.
3. X-Linked Dominant Inheritance
Some genes for disorders are located on, and therefore transmitted only by, the female sex
chromosome (the X chromosome). If the affected gene is dominant, only one X chromosome
with the trait need be present for symptoms of the disorder to be manifested. Family
characteristics seen with this type of inheritance usually include:
• All individuals with the gene are affected
(the gene is dominant).
• All female children of affected men are
affected; all male children of affected
men are unaffected.
• It appears in every generation.
• All children of homozygous affected
women are affected. Fifty percent of the
children of heterozygous affected
women are affected.
4. X-Linked Recessive Inheritance
Most X-linked inherited disorders are not
dominant, but recessive. When the inheritance
of a recessive gene comes from both parents
(homozygous recessive) it appears to be
incompatible with life. Therefore, females who
inherit the affected gene will be heterozygous,
and, because a normal gene is also present,
the expression of the disease will be blocked.
On the other hand, because males have only
one X chromosome, the disease will be
manifested in any male children who receive
the affected gene from their mother.
Hemophilia A and Christmas disease (blood-
factor deficiencies), color blindness, Duchenne
(pseudohypertrophic) muscular dystrophy, and
fragile X syndrome (a cognitive challenge
syndrome) are examples of this type of inheritance. In this inheritance pattern, the mother has
the affected gene on one of her X chromosomes and the father is disease-free. When this
occurs, the chances are 50% that a male child will manifest the disease and 50% that a female
child will carry the disease gene. If the father has the disease and chooses a sexual partner
who is free of the disease gene, the chances are 100% that a daughter will have the sex-
linked recessive gene, but there is no chance that a son will have the disease. When X-linked
recessive inheritance is present in a family, a family genogram will reveal:
• Only males in the family will have the disorder.
• A history of girls dying at birth for unknown reasons often exists (females who had the
affected gene on both X chromosomes).
• Sons of an affected man are unaffected.
• The parents of affected children do not have the disorder
5. Multifactorial (Polygenic) Inheritance
Many childhood disorders such as heart disease, diabetes, pyloric stenosis, cleft lip and
palate, neural tube disorders, hypertension, and mental illness tend to have a higher-than
usual incidence in some families. They appear to occur from multiple gene combinations
possibly combined with environmental factors. Diseases caused by multiple factors this way
do not follow Mendelian laws because more than a single gene or HLA is involved. It may be
more difficult for parents to understand why these disorders occur because their incidence is
so unpredictable. A family history, for instance, may reveal no set pattern. Some of these
conditions have a predisposition to occur more frequently in one sex (cleft palate occurs more
often in girls than boys), but they can occur in either sex.
6. Imprinting
Imprinting refers to the differential expression of genetic material and allows researchers to
identify whether the chromosomal material has come from the male or female parent.
Genetic Counselling
Any individual concerned about the possibility of transmitting a disease to his or her children should have
access to genetic counseling for advice on the inheritance of disease. Such counseling can serve to:
• Provide concrete, accurate information about the process of inheritance and inherited disorders.
• 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 disorders to make informed choices about future
reproduction.
• Offer support to people who are affected by genetic disorders
Genetic counseling can result in making individuals feel “well” or free of guilt for the first time in their lives
if they discover that the disorder, they were worried about was not an inherited one but was rather a
chance occurrence. It is essential that information revealed in genetic screening be kept confidential,
because such information could be used to damage a person’s reputation or harm a future career or
relationship. This necessity to maintain confidentiality prevents health care providers from alerting other
family members about the inherited characteristic unless the member requesting genetic assessment
has given consent for the information to be revealed. In some instances, a genetic history reveals
information, such as that a child has been adopted or is the result of artificial insemination, or that a
current husband is not the child’s father information that a family doesn’t want revealed. The member of
the family seeking counseling has the right to decide whether this information may be shared with other
family members. The ideal time for counseling is before a first pregnancy. Some couples take this step
even before committing themselves to marriage so they can offer not to involve their partner in a marriage
if children of the marriage would be subject to a serious inherited disorder. Other couples first become
aware of the need for genetic counseling after the birth of a first child with a disorder. It is best if they
receive counseling before a second pregnancy. A couple may not be ready for this, however, until the
initial shock of their first child’s condition and the grief reaction that may accompany it have run their
course. Only then are they ready for information and decision making. Even if a couple decides not to
have any more children, it is important that they know that genetic counseling is available should their
decision change. Also be certain that they are aware that as their children reach reproductive age, they,
too, may benefit from genetic counseling. Couples who are most apt to benefit from a referral for genetic
testing or counseling include:
• A couple who has a child with a congenital disorder or an inborn error of metabolism. Many
congenital disorders occur because of teratogenic invasion during pregnancy that has gone
unrecognized. Learning that the abnormality occurred by chance rather than inheritance is
important, because the couple will not have to spend the remainder of their childbearing years in
fear that another child may be born with the disorder (although a chance circumstance could
occur again). If a definite teratogenic agent, such as a drug a woman took during pregnancy, can
be identified, the couple can be advised about preventing this occurrence in a future pregnancy.
• A couple whose close relatives have a child with a genetic disorder such as a translocation
disorder or an inborn error of metabolism. It is difficult to predict the expected occurrence of many
“familial” or multifactorial disorders. In these instances, counseling should be aimed at educating
the couple about the disorder, treatment available, and the prognosis or outcome of the disorder.
Based on this information, the couple can make an informed reproductive choice about children.
• Any individual who is a known balanced translocation carrier. Understanding of his or her own
chromosome structure and the process by which future children could be affected can help such
an individual make an informed choice about reproduction or can alert him or her to the
importance of fetal karyotyping during any future pregnancy.
• Any individual who has an inborn error of metabolism or chromosomal disorder. Any person with
a disease should know the inheritance pattern of the disease and, like those who are balanced
translocation carriers, should be aware if prenatal diagnosis is possible for his or her disorder.
• A consanguineous (closely related) couple. The more closely related are two people, the more
genes they have in common, so the more likely it is that a recessively inherited disease will be
expressed. A brother and sister, for example, have about 50% of their genes in common; first
cousins have about 12% of their genes in common.
• Any woman older than 35 years and any man older than 55 years. This is directly related to the
association between advanced parental age and the occurrence of Down syndrome.
• Couples of ethnic backgrounds in which specific illnesses are known to occur. Mediterranean
people, for example, have a high incidence of thalassemia, a blood disorder; those with a Chinese
ancestry have a high incidence of glucose-6- phosphate dehydrogenase (G6PD) deficiency, a
blood disorder where destruction of red cells can occur.
Nursing Responsibilities
Nurses play important roles in assessing for signs and symptoms of genetic disorders, in offering support
to individuals who seek genetic counseling, and in helping with reproductive genetic testing procedures
by such actions as:
1. Explaining to a couple what procedures they can expect to undergo.
2. Explaining how different genetic screening tests are done and when they are usually offered.
3. Supporting a couple during the wait for test results.
4. Assisting couples in values clarification, planning, and decision making based on test results.
f. Fetal imaging
Magnetic resonance imaging (MRI) and ultrasound are diagnostic tools used to assess a
fetus for general size and structural disorders of the internal organs, spine, and limbs.
Because some genetic disorders are associated with physical appearance, both methods
may be helpful. Ultrasound is used concurrently with amniocentesis.
g. Fetoscopy
Fetoscopy is the insertion of a fiberoptic fetoscope through a small incision in the mother’s
abdomen into the uterus and membranes to visually inspect the fetus for gross
abnormalities. It can be used to confirm an ultrasound finding, to remove skin cells for
DNA analysis, or to perform surgery for a congenital disorder such as a stenosed urethra.
h. Preimplantation Diagnosis
Preimplantation diagnosis is possible for in vitro fertilization procedures. It may be
possible in the future for a naturally fertilized ovum to be removed from the uterus by
lavage before implantation and studied for DNA analysis this same way. The ovum would
then be reinserted or not, depending on the findings and the parents’ wishes. This would
provide genetic information extremely early in a pregnancy.
Chromosome – the structure that weaves genes into strands in the nucleus of all body cells.
Genes – basic units of heredity that determine both the physical and mental characteristics of
people.
Genetics – study of how and why chromosomal disorders occur; the science of heredity.
Genome – complete set of genes present
Genotype – actual gene composition
Website: fact-sheet-9-x-linked-recessive-inheritance (genetics.edu.au)
Study Questions
• Download a research article on the topic ‘Genetic Assessment and Counselling’ from
ScienceDirect. Submit a 300-word essay reflection.
Flagg (2018). Maternal and Child Health Nursing: Care of the Childbearing and Childrearing Family.
Wolters Kluwer.