Chapter 06: Genetics, Conception, and Fetal
DevelopmentPerry: Maternal Child Nursing Care,
6th Edition Exam Question and Answer
1. 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 won't 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 you'd 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."
correct answer: ANS correct answer: C The chance is one in four that each child produced
by this couple will be attected 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.
2. 2. The nurse is providing genetic counseling for an expectant
couple who already have a child with trisomy 18. The nurse
should correct answer:
a. tell the couple they need to have an abortion within 2 to 3
weeks.
b. explain that the fetus has a 50% chance of having the disorder.
c. discuss options with the couple, including amniocentesis to
determine whether the fetus is affected.
d. refer the couple to a psychologist for emotional support. correct
, answer: ANS correct answer: C
Genetic testing, including amniocentesis, would need to be performed to determine whether the fetus
is attected. The couple should be given information about the likelihood of having another baby with
this disorder so that they can make an informed decision. A genetic counselor is the best source for
determining genetic probability ratios. The couple eventually may need emotional support, but the
status of the pregnancy must be determined first.
3. 3. The 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 correct
answer:
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. correct answer: ANS
correct answer: 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 not an X-linked dominant or recessive disorder
or an autosomal dominant inheritance disorder.
4. 4. In presenting to obstetric nurses interested in genetics, the
genetic nurse identifies the primary risk(s) associated with
genetic testing as correct answer:
a. anxiety and altered family relationships.
b. denial of insurance benefits.
c. high false-positive results associated with genetic testing.
d. ethnic and socioeconomic disparity associated with genetic testing.
correct answer: ANS correct answer: B 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. Anxiety and altered family relationships, high false-positive
results, and ethnic and socioeconomic disparity are factors that may be diflculties associated with genetic
testing, but they are not risks associated with testing.
5. 5. A man's wife is pregnant for the third time. One child was born
with cystic fibrosis, and the other child is healthy. The man wonders
what the chance is that this child will have cystic fibrosis. This type
of testing is known as correct answer:
a. occurrence risk.
b. recurrence risk.
c. predictive testing.
d. predisposition testing. correct answer: ANS correct answer: B
The couple already has a child with a genetic disease so they will be given a recurrence risk test. If a
couple has not yet had children but are known to be at risk for having children with a genetic disease,
they are given an occurrence risk test. Predictive testing is used to clarify the genetic status of an
asymptomatic family member. Predisposition testing ditters from presymptomatic testing in that a
positive result does not indicate 100% risk of a condition developing.
6. 6. A key finding from the Human Genome Project is correct answer:
DevelopmentPerry: Maternal Child Nursing Care,
6th Edition Exam Question and Answer
1. 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 won't 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 you'd 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."
correct answer: ANS correct answer: C The chance is one in four that each child produced
by this couple will be attected 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.
2. 2. The nurse is providing genetic counseling for an expectant
couple who already have a child with trisomy 18. The nurse
should correct answer:
a. tell the couple they need to have an abortion within 2 to 3
weeks.
b. explain that the fetus has a 50% chance of having the disorder.
c. discuss options with the couple, including amniocentesis to
determine whether the fetus is affected.
d. refer the couple to a psychologist for emotional support. correct
, answer: ANS correct answer: C
Genetic testing, including amniocentesis, would need to be performed to determine whether the fetus
is attected. The couple should be given information about the likelihood of having another baby with
this disorder so that they can make an informed decision. A genetic counselor is the best source for
determining genetic probability ratios. The couple eventually may need emotional support, but the
status of the pregnancy must be determined first.
3. 3. The 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 correct
answer:
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. correct answer: ANS
correct answer: 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 not an X-linked dominant or recessive disorder
or an autosomal dominant inheritance disorder.
4. 4. In presenting to obstetric nurses interested in genetics, the
genetic nurse identifies the primary risk(s) associated with
genetic testing as correct answer:
a. anxiety and altered family relationships.
b. denial of insurance benefits.
c. high false-positive results associated with genetic testing.
d. ethnic and socioeconomic disparity associated with genetic testing.
correct answer: ANS correct answer: B 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. Anxiety and altered family relationships, high false-positive
results, and ethnic and socioeconomic disparity are factors that may be diflculties associated with genetic
testing, but they are not risks associated with testing.
5. 5. A man's wife is pregnant for the third time. One child was born
with cystic fibrosis, and the other child is healthy. The man wonders
what the chance is that this child will have cystic fibrosis. This type
of testing is known as correct answer:
a. occurrence risk.
b. recurrence risk.
c. predictive testing.
d. predisposition testing. correct answer: ANS correct answer: B
The couple already has a child with a genetic disease so they will be given a recurrence risk test. If a
couple has not yet had children but are known to be at risk for having children with a genetic disease,
they are given an occurrence risk test. Predictive testing is used to clarify the genetic status of an
asymptomatic family member. Predisposition testing ditters from presymptomatic testing in that a
positive result does not indicate 100% risk of a condition developing.
6. 6. A key finding from the Human Genome Project is correct answer:
