Chapter 03 Nursing and Genomics

Chapter 03  Nursing and Genomics

Complete Chapter Questions And Answers
 

Sample Questions

MULTIPLE CHOICE

1. 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 you’d 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.”

ANS: 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.

DIF: Cognitive Level: Apply REF: p. 51 TOP: Nursing Process: Planning
MSC: Client Needs: Health Promotion and Maintenance

2. 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.

ANS: 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. Furthermore, the guiding principle for genetic counseling is nondirection, which respects the right of the individual or family who are being counseled to make autonomous decisions.

DIF: Cognitive Level: Apply REF: p. 54 TOP: Nursing Process: Planning
MSC: Client Needs: Health Promotion and Maintenance

3. 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 café-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

ANS: C
Clinical manifestations of NF may include axillary freckling and café-au-lait spots. Tay-Sachs disease is an incurable lipid-storage disorder and is not associated with café-au-lait spots. Galactosemia is an inborn error of metabolism and is also not associated with café-au-lait spots. PKU is not associated with café-au-lait spots. A child with PKU would have difficulty manufacturing the liver enzyme phenylalanine.

DIF: Cognitive Level: Remember REF: p. 51
TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance

4. 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

ANS: 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.

DIF: Cognitive Level: Understand REF: p. 49
TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance

5. 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.

ANS: 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.

DIF: Cognitive Level: Understand REF: p. 50
TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance