Exam 1 - Chapter 3 Flashcards
A father and mother are carriers of phenylketonuria (PKU). Their 2-year-old daughter has
the condition. The couple tells the nurse that they are having a second baby. Because their
daughter has PKU, they are certain that this baby will not be affected. Which response by the
nurse is the most accurate?
a. Good planning. You need to take advantage of the odds that are in your favor.
b. I think youd better first check with your physician.
c. You are both carriers; therefore, each baby has a 25% chance of being affected.
d. The ultrasound indicates a boy, and boys are not affected by PKU.
C - Each child conceived by this couple has a one-in-four chance of being affected with the PKU
disorder. This couple still has an increased likelihood of having a child with PKU; having one
child already with PKU does not guarantee that they will not have another. These parents need to
discuss their options with their physician. However, an opportune time has presented itself for
the couple to receive correct teaching about inherited genetic risks. No correlation exists between
gender and inheritance of the disorder, because PKU is an autosomal recessive disorder
A client is 5 months pregnant. On a routine ultrasound scan, the physician discovers that
the fetus has a diaphragmatic hernia. The woman becomes distraught and asks the nurse what she
should do. Which response would be most suitable?
a. Talk to the client, and refer her to a genetic counselor.
b. Suggest that the client travel to a fetal treatment center for intrauterine surgery.
c. Tell her that everything is going to be fine.
d. Sit with the client, and calmly suggest that she consider terminating this pregnancy.
A - Before the client makes any decisions, she should discuss this newly discovered information with
a genetic counselor. Genetic counselors can help with the diagnosis and management of families
affected by genetic conditions. The discussion of potential surgery should be pursuant to genetic
counseling. Telling the woman that everything is going to be fine may give her false hope and is
not accurate. All options should be discussed with the genetic counselor.
A client who is gravida 2 and 16 weeks of gestation comes in for her prenatal
appointment. Her 2-year-old daughter is with her and is wearing a sleeveless top. While
interacting with her daughter, you note axillary freckling and several caf-au-lait spots (>2 cm). In
reviewing her chart, the nurse should assess for documentation of which genetic disease?
a. Tay-Sachs disease
b. Galactosemia
c. Neurofibromatosis (NF)
d. PKU
C - Clinical manifestations of NF may include axillary freckling and caf-au-lait spots. Tay-Sachs
disease is an incurable lipid-storage disorder and is not associated with caf-au-lait spots.
Galactosemia is an inborn error of metabolism and is also not associated with caf-au-lait spots.
PKU is not associated with caf-au-lait spots. A child with PKU would have difficulty
manufacturing the liver enzyme phenylalanine.
A new father has just been told that his infant has trisomy 18. Which identifying physical
feature is unique to an infant with this genetic disorder?
a. Microcephaly and capillary hemangiomas
b. Epicanthal folds and a simian crease
c. Oblique palpebral fissures and Cri du chat syndrome
d. Rocker-bottom feet and clenched hands with overlapping fingers
D - Rocker-bottom feet and clenched hands with overlapping fingers are associated with trisomy 18.
Microcephaly and capillary hemangiomas are associated with trisomy 13. Epicanthal folds and a
simian crease are associated with trisomy 21 (Down syndrome). Deletion of the short arm of
chromosome number 5 is manifested by Cri du chat syndrome.
A nurse is assessing the knowledge of new parents of a child born with Klinefelter
syndrome. Which statement accurately describes this genetic disorder?
a. Klinefelter syndrome is a sex chromosome abnormality.
b. It affects only female children.
c. The disorder is expressed as trisomy XYY.
d. The child with this disorder will grow to be infertile
A - Klinefelter syndrome, also known as trisomy XXY, is a sex chromosomal deviation that is
expressed in males. Turner syndrome (monosomy X) is displayed in females. Most males with
Klinefelter syndrome are tall, may be infertile, and are slow to learn; however, those who have
mosaic Klinefelter syndrome may be fertile as adults
Which factor is least likely to influence the decision to undergo genetic testing?
a. Anxiety and altered family relationships
b. Cost of testing or denial of insurance benefits
c. Imperfection of test results
d. Ethnic and socioeconomic disparity associated with genetic testing
B - Testing is not 100% accurate and has a high percentage of false-negative results. An individual
may not take these results seriously and subsequently fail to have testing completed or to seek
necessary follow-up consultation. Anxiety and altered family relationships are often the result of
genetic testing. The results of genetic testing may be difficult to keep confidential, and family
members may feel pressured to have testing performed. Decisions about genetic testing are
shaped by socioeconomic status and the ability to pay for the testing. Some types of genetic
testing are expensive and are not covered by insurance benefits. Caucasian middle-class families
have greater access to genetic screening; therefore, this population is less at likely to decide
against genetic testing.
A 32-year-old woman is pregnant for the third time. One child was born with cystic
fibrosis, and the other child is healthy. The client and her husband wonder what chance this child
has of having cystic fibrosis. This type of testing is most commonly known as what?
a. Occurrence risk
b. Recurrence risk
c. Predictive testing
d. Predisposition testing
B - The couple already has a child with a genetic disease; therefore, this couple will be given a
recurrence risk test. If a couple has not yet had a child but is known to be at risk for having a
child with a genetic disease, then an occurrence risk test is administered. Predictive testing
clarifies the genetic status of an asymptomatic family member. Predisposition testing differs
from presymptomatic testing in that a positive result does not indicate 100% risk of a condition
developing.
Cancer is now recognized as a genetic disorder that begins with one or more genetic
mutations. Which type of cancer is specifically being investigated in this regard?
a. Lung cancer
b. Liver cancer
c. Colorectal cancer
d. Oral cancer
C - Colorectal cancer usually results from one or more predisposing genes and is the third leading
cause of cancer deaths in women. Although tobacco smoke is a known causative factor for lung
cancer, an acquired mutation of an oncogene may also be present. Liver cancer is not being
investigated in this regard. Oral cancer may be caused by an inherited mutation of one or more
oncogenes.
Which statement describes a key finding of the Human Genome Project?
a. Humans produce one protein per gene.
b. All human beings are 99.9% identical at the deoxyribonucleic acid (DNA) level.
c. The Human Genome Project has not yet been able to translate the accumulating raw
research into anything medically practical.
d. Humans have more genes than other species
B - The majority of the 0.1% genetic variations are found within and not among populations. Most
human genes produce at least three proteins. The projects research has been very valuable in the
identification of genes involved in disease and in the development of genetic testing. There are
20,500 genes in the human genome; scientists originally estimated more than 50,000 genes.
Human genes are more efficient than the genes in other species, thereby increasing the human
genetic complexity.
Which condition or treatment reduces the risk of morbidity in women with the inherited factor V Leiden disorder? a. Anticoagulant therapy b. Pregnancy c. Oral contraceptives d. Hormone replacement therapy
A - Factor V Leiden is the most common inherited risk factor for primary or recurrent venous
thromboembolism. It is an autosomal recessive disorder that increases an individuals risk for
blood clots in the legs and pulmonary emboli. This risk significantly increases if the woman is
pregnant or is taking oral contraceptives or hormone replacement therapy. Prophylactic
anticoagulation therapy decreases the risk of comorbidities
Nurses who elect to practice in the field of obstetrics must have a basic working
knowledge of genetics. What is the correct term used to describe an individuals genetic makeup?
a. Genotype
b. Phenotype
c. Karyotype
d. Chromotype
A - The genotype comprises all the genes the individual can pass on to a future generation. The
phenotype is the observable expression of an individuals genotype. The karyotype is a pictorial
analysis of the number, form, and size of an individuals chromosomes. Genotype refers to an
individuals genetic makeup.
The U.S. Department of Health and Human Services has designated Thanksgiving Day as
National Family History Day. The U.S. Surgeon General encourages family members to discuss important family health information while sharing in holiday gatherings. Why is this initiative
significant to nurses?
a. Few genetic tests are available that identify this information.
b. Only physicians should obtain this detailed information.
c. Clients cannot accurately complete these histories on their own.
d. Family history is the single most cost-effective source for genetic information.
D - Although more than 1000 genetic tests are available, the single most cost-effective piece of
genetic information is the family history. Nurses are ideally suited to take the lead in ongoing
efforts to recognize the significance of the family history as an important source of genetic
information. A computerized tool called My Family Health Portrait is available free of charge
(https://familyhistory.hhs.gov/fhh-web/home.action). Other tools designed to help the lay
community in completing their family histories are available to the public.
A maternal-newborn nurse is caring for a mother who just delivered a baby born with
Down syndrome. Which nursing diagnosis would be the most essential in caring for the mother
of this infant?
a. Disturbed body image
b. Interrupted family processes
c. Anxiety
d. Risk for injury
B- This mother will likely experience a disruption in the family process related to the birth of a baby
with an inherited disorder. Therefore, the probable nursing diagnosis for this family is
Interrupted family processes. Women commonly experience body image disturbances in the
postpartum period; however, this nursing diagnosis is unrelated to giving birth to a child with
Down syndrome. The mother will likely have a mix of emotions that may include anxiety, guilt,
and denial, but this nursing diagnosis is not the most essential for this family. Risk for injury is
not an applicable nursing diagnosis.
A couple has been counseled for genetic anomalies. They ask you, What is karyotyping?
Which description is most accurate?
a. Karyotyping will reveal if the babys lungs are mature.
b. Karyotyping will reveal if the baby will develop normally.
c. Karyotyping will provide information about the gender of the baby and the number and
structure of the chromosomes.
d. Karyotyping will detect any physical deformities the baby has
C - Karyotyping provides genetic information such as gender and chromosomal structure. The
lecithin/sphingomyelin (L/S) ratio, not karyotyping, reveals lung maturity. Although karyotyping
can detect genetic anomalies, the range of normal is nondescriptive, and not all such anomalies
display obvious physical deformities. The term deformities is a nondescriptive word, and
physical anomalies may be present that are not detected by genetic studies (e.g., cardiac
malformations).
Which statement regarding genetic health care is most important to the nurse practicing
in this specialty?
a. Genetic disorders equally affect people of all socioeconomic backgrounds, races, and
ethnic groups.
b. Genetic health care is more concerned with populations than individuals.
c. Providing emotional support to the family during counseling is the most important of all
nursing functions.
d. Taking genetic histories is the province of large universities and medical centers.
C - Perhaps the most important of all nursing functions is the ability to provide emotional support.
Nurses should be prepared to help with various stress reactions from a couple facing the
possibility of a genetic disorder. Although anyone may have a genetic disorder, certain disorders
appear more often in certain ethnic and racial groups. Genetic health care is highly
individualized because treatments are based on the phenotypic responses of the individual.
Individual nurses at any facility can take a genetic history, although larger facilities may have
better support services.
