Hockenberry: Wongs Nursing Care of Infants and Children, 10th Edition

Chapter 03: Hereditary Influences on Health Promotion of the Child and Family
Key Points - Print

The 20th century was a time of intense work and discovery in the field of medical genetics,
or the study of human hereditary disease. Molecular-based knowledge and technologies have
been greatly accelerated by the Human Genome Project (HGP), which is rapidly
identifying genes and deoxyribonucleic acid (DNA) variations associated with disease.
Genes are segments of DNA that contain genetic information necessary to control a certain
physiologic function or characteristic. These segments are often referred to as sites, or loci,
indicating a physical or geographic location on a chromosome. Genetic disorders may
result from gene mutations (single-gene, polygenic, or mitochondrial disorders) or
chromosome abnormalities. Genes that encode proteins are termed structural genes.
Mutations in structural genes may have significant qualitative and quantitative effects on the
synthesis of the corresponding protein, with potential clinical consequences.
Genetic diseases may be caused by chromosome abnormalities, gene mutations, or
mtDNA mutations. In addition, expressions of a genetic disease are often influenced
by environmental factors.
Congenital anomalies, or birth defects, occur in 2% to 4% of all live-born children and
are often classified as deformations, disruptions, dysplasias, or malformations. Congenital
anomalieserrors of morphogenic developmentmay arise at any stage of development
and demonstrate wide variability in causative factors. Environmental teratogens and
maternal disease may also disrupt fetal development, leading to birth defects.
Chromosome disorders are caused by abnormalities in either chromosome structure or
number. Both numeric and structural abnormalities of autosomes (all chromosomes
except the X and Y chromosomes) account for a variety of syndromes usually
characterized by cognitive deficits.
Numeric chromosome abnormalities occur whenever entire chromosomes are added or
deleted. Alterations in chromosome number occur as a result of unequal distribution of
genetic material during gamete formation (meiotic nondisjunction) or early cell division of
the zygote (mitotic nondisjunction). The most common cause of alteration in the number
of chromosomes is a misdistribution of chromosomes during mitosis or meiosis. Examples
of numeric alterations affecting the autosomes include some of the most common
trisomies found in humans: trisomy 21 (Down syndrome), trisomy 18 (Edwards
syndrome), and trisomy 13 (Patau syndrome).
Chromosomes are subject to structural alterations resulting from breakage and
rearrangement. A chromosome deletion occurs when chromosome breakage results in loss
of the broken fragment at a chromosomes terminal end or within the chromosome. A more
common rearrangement resulting from chromosome breakage is translocation, which
occurs when a chromosomal fragment reunites with another, nonhomologous chromosome.
Some structural chromosome abnormalities are too small to reliably visualize under a light
microscope but are still clinically relevant. Fragile, or weak, sites associated with expanded
Copyright 2015, 2011, 2007, 2003, 1999 by Mosby, Inc., an imprint of Elsevier Inc. All rights reserved.

Key Points - Print

3-2

triplet repeats have been identified on both the autosomes and the X chromosome. A classic
example is fragile X syndrome.
Disorders caused by single-gene mutations are distributed in families according to
predictable mendelian principles of inheritance, but recognition of the pattern may be
influenced by variable expressivity and penetrance (frequency of expression).
The transmission of genes located on one of the sex chromosomes (either X or Y) is termed
sex-linked inheritance. However, few genes have been found on the Y chromosome, so
frequently the terms sex-linked and X-linked are interchangeably (and incorrectly) used.
The intrauterine environment can have a profound and permanent effect on the developing
fetus, with or without chromosome or single-gene abnormalities. Intrauterine growth
restriction, for example, can occur with many genetic syndromes, such as Down, RussellSilver, Prader-Willi, and Turner syndromes, or it can be caused by nongenetic factors such
as maternal alcohol ingestion.
Genetic testing can be broadly divided into two categories, diagnostic testing and
screening. Genetic screening is presumptive identification of an unrecognized genetic
predisposition for future disease in individuals or their progeny for which preventive or
disease coursealtering interventions exist. In general, whereas genetic screening targets
populations, genetic diagnostic testing targets individuals.
Prenatal testing is aimed at both screening (ultrasonography and maternal biochemical
marker testing) and diagnosis (amniocentesis, ultrasonography, chorionic villi sampling
[CVS], and fetal cord blood sampling).
Biochemical maternal serum screening is used to detect pregnancies at increased risk for
certain congenital anomalies and chromosome disorders. In the first trimester, maternal
serum can be analyzed for free human chorionic gonadotropin and pregnancy-associated
plasma protein A. These values, in combination with nuchal fold translucency
measurement, can be used to identify pregnancies at high risk for chromosome anomalies,
particularly aneuploidy.
Invasive prenatal diagnostic tests include CVS, amniocentesis, and fetal blood sampling.
CVS can be performed between 10 and 12 weeks of gestation. Using either a transcervical or
transabdominal approach guided by ultrasound, the clinician obtains a small biopsy of the
chorionic villi. Cells from the sample can be grown for chromosome and single-gene disorder
studies.
Amniocentesis is usually performed at 14 to 18 weeks of gestation under ultrasound
guidance. Fetal skin cells that have sloughed off and are present in the amniotic fluid can
be isolated and cultured for chromosome or single-gene analyses. -Fetoprotein (AFP) can
be measured in the amniotic fluid and is a much more reliable indicator of a neural tube
defect or abdominal wall defect than maternal serum AFP.
A genetic counseling goal is to provide individuals and families with information needed to
make informed decisions about a course of action that is most appropriate to them. It is a
nurses responsibility to learn basic genetic principles, to be alert to situations in which
families could benefit from genetic evaluation and counseling, to know about special
services that can help manage and support affected children, and to be familiar with
facilities in their areas where these services are available. In this way, nurses will be able to

Copyright 2015, 2011, 2007, 2003, 1999 by Mosby, Inc., an imprint of Elsevier Inc. All rights reserved.

Key Points - Print

3-3

direct individuals and families to needed services and be active participants in the genetic
evaluation and counseling process.
Comprehensive genetic services consist of a group of specialists, which may include
clinical geneticists, advanced practice nurses in genetics, genetic counselors,
psychologists, biochemical geneticists, cytogeneticists, molecular geneticists, nurses,
social workers, and other auxiliary personnel. The services are most often under the
leadership of a physician trained in medical genetics, who assumes responsibility for the
medical aspects of the problem.
Competent nursing practice includes applying and integrating genetic and genomic
knowledge while performing nursing assessments, identifying and referring patients
and families who may benefit from genetic services, identifying resources for patients
and families, and providing education, care, and support.
Family health history is an important tool to identify individuals and families at increased
risk for disease, risk factors for disease (e.g., obesity), and inheritance patterns of diseases.
Because of its importance, all nurses need to be able to elicit family history information and
document the collected information in pedigree format.

Copyright 2015, 2011, 2007, 2003, 1999 by Mosby, Inc., an imprint of Elsevier Inc. All rights reserved.