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Test Bank Maternity and LowdermilkPerry Care Health 10th Womens edition

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Chapter 03: Clinical Genetics

Test Bank

MULTIPLE CHOICE

1. A father and mother are carriers of phenylketonuria (PKU). Their 2-year-old daughter has PKU. The couple tells the nurse that they are planning to have a second baby. Because their daughter has PKU, they are sure that their next baby wont be affected. What response by the nurse is most accurate?
a. ?Good planning; you need to take advantage of the odds in your favor.?
b. ?I think youd better check with your doctor first.?
c. ?You are both carriers, so each baby has a 25% chance of being affected.?
d. ?The ultrasound indicates a boy, and boys are not affected by PKU.?

ANS: C
The chance is one in four that each child produced by this couple will be affected by 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: Application REF: 53
OBJ: Client Needs: Health Promotion and Maintenance
TOP: Nursing Process: Planning

2. A woman 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. What action by the nurse is most appropriate?
a. Talk to the woman and refer her to a genetic counselor.
b. Suggest that the woman travel to a fetal treatment center for intrauterine surgery.
c. Tell her that everything is going to be fine.
d. Sit with her and calmly suggest that she consider terminating this pregnancy.

ANS: A
Before the woman 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 nondirectiveness. This respects the right of the individual or family being counseled to make autonomous decisions.

DIF: Cognitive Level: Application REF: 56
OBJ: Client Needs: Health Promotion and Maintenance
TOP: Nursing Process: Planning

3. A woman who is gravida 2 and 16 GW 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, you would assess for documentation of which genetic disease?
a. Tay-Sachs disease
b. Galactosemia
c. Neurofibromatosis (NF)
d. Phenylketonuria

ANS: C
Clinical manifestations of NF may include axillary freckling and caf?-au-lait spots.
Tay-Sachs disease is not associated with caf?-au-lait spots. Tay-Sachs is an incurable lipid-storage disorder.
Galactosemia is not associated with caf?-au-lait spots; rather it is an inborn error of metabolism.
Phenylketonuria is not associated with caf?-au-lait spots. This child would have difficulty manufacturing the liver enzyme phenylalanine.

DIF: Cognitive Level: Knowledge REF: 52
OBJ: Client Needs: Health Promotion and Maintenance
TOP: Nursing Process: Assessment

4. A new father has just been told that his child has trisomy 18. He asks the nurse what made her suspect a problem after the birth. The nurse explains that during the infants newborn assessment, she noted:
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: Comprehension REF: “50, 51”
OBJ: Client Needs: Health Promotion and Maintenance
TOP: Nursing Process: Assessment

5. A nurse is assessing the knowledge of new parents with a child born with maple syrup urine disease (MSUD). This is an autosomal recessive inherited disorder, which means that:
a. Both genes of a pair must be abnormal for the disorder to be expressed
b. Only one copy of the abnormal gene is required for the disorder to be expressed
c. The disorder occurs in males and heterozygous females
d. The disorder is carried on the X chromosome

ANS: A
MSUD is a type of autosomal recessive inheritance disorder in which both genes of a pair must be abnormal for the disorder to be expressed.
MSUD is an autosomal recessive inheritance disorder that cannot be expressed when only one copy of the abnormal gene is present.
MSUD is not an autosomal dominant inheritance disorder. The disorder would not be present with this genetic presentation.
MSUD is not an X- linked disorder; it is an autosomal recessive inheritance disorder in which both genes of a pair must be abnormal for the disorder to be present.

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