Chapter 8

The Nursing Role in Genetic

Assessment and Counseling
2020 National Health Goals Related to
Genetic Diseases and Screening #1

Increase the number of states (and the District of

Columbia) that verify through linkage with vital
records all newborns are screened shortly after birth
for conditions mandated by their state-sponsored
screening program from 21% to 45%.
Reduce the proportion of children diagnosed with a
disorder through newborn blood spot screening who
experience developmental delay requiring special
education services from 15.1% to 13.6%.

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2020 National Health Goals Related to
Genetic Diseases and Screening #2

Increase the proportion of screen-positive children

who receive follow-up testing within the
recommended time period from 98.1% to 100%.
Increase the proportion of youth with special
healthcare needs whose healthcare provider has
discussed transition planning from pediatric to adult
health care from 41.2% to 45.3%.
Reduce the number of children and youth with
disabilities (aged 21 years and younger) living in
congregate care residences from 28,890 to 26,001.

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 Referral for Genetic Testing
 Couples with previous children with congenital disorders
or inborn errors of metabolism
 Couples with close relatives who have genetic disorders
 Individuals who are known carriers of a chromosomal
disorder
 Individuals with a chromosomal disorder or inborn error
of metabolism
 Consanguineous couples
 Women older than 35 and men older than 55 years of age
 Couples of ethnic backgrounds where genetic diseases are
known to occur

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Assessing for Genetic Disorders #1

History
Physical assessment
Diagnostic testing
o Nuchal translucency screening
o cfDNA
o Karyotyping
o Maternal serum screening (MSAFP)

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in the first trimester, women are offered a
routine sonogram screening (a nuchal
translucency scan)
 an analysis of maternal serum levels of α-
fetoprotein (MSAFP),
pregnancy-associated plasma protein A
(PAPP-A), and free beta hCG to evaluate for
chromosomal disorders in the nucleus of
most living cells, carrying genetic
information in the form of genes.)
women over the age of 35 years may be
offered a more accurate noninvasive blood
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karyotype (a graphic representation of the
chromosomes present)—when fetal
chromosomes are photographed and
displayed, which can provide a definite
answer about the presence or absence of
chromosomal disorders.
Genes are the basic units of heredity that
determine both the physical and cognitive
characteristics of people

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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).

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A normal genome is abbreviated as 46XX or
46XY (the designation of the total number of
chromosomes plus a graphic description of
the sex chromosomes present).
 If a chromosomal aberration exists, it is
listed after the sex chromosome pattern. In
such abbreviations, the letter p stands for
short arm disorders and q stands for long
arm disorders.
(

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For example, the abbreviation 46XX5p—is
the abbreviation for a female with 46 total
chromosomes but with the short arm of
chromosome 5 missing (cri-du-chat
syndrome).
In Down syndrome, the person has an extra
chromosome 21, so this is abbreviated as
47XX21+ or 47XY21+

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MENDELIAN INHERITANCE: DOMINANT AND RECESSIVE
PATTERNS

Gregor Mendel, an Austrian naturalist, in the 1800s

and are known as Mendelian laws.
Homozygous-two like genes for a trait—two
healthy genes
Heterozygous -genes differ (a healthy gene from
the mother and an unhealthy gene from the father,
or vice versa)
When dominant genes are paired with nondominant
(recessive) ones, the dominant genes are always
expressed in preference to the recessive genes (a
gene for brown eyes, for example, is dominant over
one for blue eyes; a child born with a gene for
brown eyes and a recessive one for blue eyes will
have brown eyes).
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A normal genome is abbreviated as 46XX or 46XY
(the designation of the total number of
chromosomes plus a graphic description of the sex
chromosomes present).
If a chromosomal aberration exists, it is listed after
the sex chromosome pattern. In such abbreviations,
the letter p stands for short arm disorders and q
stands for long arm disorders. For example, the
abbreviation 46XX5p—is the abbreviation for a
female with 46 total chromosomes but with the
short arm of chromosome 5 missing (cri-du-chat
syndrome).
 In Down syndrome, the person has an extra
chromosome 21, so this is abbreviated as 47XX21+
or 47XY21+( Copyright © 2018 Wolters Kluwer · All Rights Reserved
Assessing for Genetic Disorders #2

Diagnostic testing—(cont.)
o Chorionic villi sampling
o Maternal quadruple marker screen
o Amniocentesis (karyotype assessment)
o Percutaneous umbilical blood sampling
o Fetal anatomy ultrasound
o Fetoscopy
o Newborn screening

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Copyright © 2018 Wolters Kluwer · All Rights Reserved
Overview

Genetics: study of the way in which disorders of

genes or chromosome structures occur
Cytogenetics: study of chromosomes by light
microscopy
As many as 1 in 20 newborns inherit a genetic
disorder

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Examples of Nursing Diagnoses Related to
Genetic Disorders

Deficient knowledge related to inheritance pattern of

the family’s genetic disorder
Knowledge deficit related to complications
associated with amniocentesis performed for genetic
testing
Decisional conflict related to continuation of genetic-
affected pregnancy

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Examples of Nursing Diagnoses and
Outcomes Related to Genetic Disorders
Nursing Diagnosis
Deficient knowledge related to
inheritance pattern of the family’s
genetic disorder
Knowledge deficit related to
complications associated with
amniocentesis performed for
genetic testing
Decisional conflict related to
continuation of genetic-affected
pregnancy
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Outcome
Patient/partners will have
knowledge about the inheritance
pattern related to their family’s
genetic disorder.
Woman will be knowledgeable
about the complications associated
with amniocentesis.
Couple will be comfortable with a
mutually agreed upon decision
related to continuing or terminating
the pregnancy.
Evaluating Outcomes Related to Genetic
Disorders

Nursing Diagnosis Outcome

Deficient knowledge related to
inheritance pattern of the family’s
genetic disorder
Knowledge deficit related to
complications associated with
amniocentesis performed for
genetic testing
Decisional conflict related to
continuation of genetic-affected
pregnancy
• Patient/partners can correctly
describe the inheritance pattern
related to their family’s genetic
disorder.
• Patient/partners can correctly
interpret the percentage of
chance of having an infant with
the genetic disorder.
?
?

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Interventions: Genetic Counseling

Aims of genetic counseling

o To provide accurate information
o To provide reassurance
o To assist individual/couple to make informed choices
o To educate individual/couple about the effects of genetic
disorders
o To offer support

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Interventions Related to Genetic
Disorders
Nursing Diagnosis
Deficient knowledge related to
inheritance pattern of the family’s
genetic disorder
Knowledge deficit related to
complications associated with
amniocentesis performed for
genetic testing
Decisional conflict related to
continuation of genetic-affected
pregnancy
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Possible Nursing Interventions
• Teach patient/partners about the
inheritance pattern related to the
type of genetic disorder that has
been identified.
• Review with the woman potential
complications related to
amniocentesis and what
preventative steps are taken
during the procedure and
afterward to avoid these
complications.
• Explore with the couple their
beliefs and feelings related to
continuation of the pregnancy.
Quality & Safety Education for Nurses
(QSEN)

Patient-Centered Care
Teamwork & Collaboration
Evidence-Based Practice
Quality Improvement
Safety
Informatics

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Inheritance

Basic terms
o Genes
o Chromosomes
o Phenotype
o Genotype
o Genome

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Normal Human Chromosomes Karyotypes

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Mendelian Inheritance

Basic terms
o Homozygous
o Heterozygous
o Dominant genes
o Recessive genes

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X-Linked Dominant Inheritance

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Karyotype of Trisomy 21

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Child With Down Syndrome

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Infant With Trisomy 13

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Three-Year-Old With Turner Syndrome

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Question #1

A woman with a history of fetal loss due to genetic

disorders is seeking information concerning the use of
amniocentesis and chorionic villi sampling (CVS)
during her next pregnancy. The nurse understands
which to best advise?
A. There are no differences in the risk of miscarriage between
these tests.
B. The loss of pregnancy is reduced in the CVS test because it is
done earlier in the gestational period.
C. The amniocentesis can safely be done anytime after the 8th
week of pregnancy.
D. The CVS has a higher risk of both miscarriage and fetal
damage.

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Answer #1

D. The CVS has a higher risk of miscarriage and fetal

damage.
Rationale: CVS is performed earlier in the pregnancy than
amniocentesis and carries a higher risk of miscarriage. It
also carries the risk of limb reduction syndrome in the fetus.
Amniocentesis is usually carried out under ultrasound
guidance after the 14th week of pregnancy, reducing the
risk of miscarriage and fetal injury.

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Question #2

Which couple would the nurse least likely refer to

genetic counseling?
A.A 28-year-old woman and 35-year-old man who have traveled
extensively worldwide
B.A 38-year-old woman and a 42-year-old man
C.A 22-year-old woman and a 22-year-old man; the woman
reports that her sister has a child with a “bad heart” and
experienced one miscarriage.
D.A 32-year-old woman and a 45-year-old man who works for a
pest control company

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Answer #2

A. A 28-year-old woman and 35-year-old man who

have traveled extensively worldwide
Rationale: Although global travel may expose individuals to
infectious disease, this rarely results in chromosomal
damage. Women older than 35 years of age and a family
history of congenital disorders need to be explored in more
detail. Finally, concern is increasing that some genetic
disorders may occur due to occupational hazards, such as
being in contact with toxic substances.

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Question #3

The majority of genetic disorders are inherited as

recessive traits. Which best describes these recessive
inheritance?
A. Two genes for the disease must be present in an offspring for
the disease to occur.
B. There is a 50% possibility that a child born to two carriers will
have the disease.
C. Only one parent must carry the trait for the disease to occur.
D. Most recessive disorders are not evident at birth (are
recessed).

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Answer #4

A. Two genes for the disease must be present in an

offspring for the disease to occur.
Rationale: In a recessive trait, the offspring must receive
one recessive gene from each parent to have the active
disease. A child born of two carriers would have a 25%
chance of having the disease. Both parents must have be
carriers for it to occur in the child.

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