Chapter 8 Flashcards
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 favour.”
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.”
C
The nurse is providing genetic counselling for an expectant couple who already have a child with trisomy 18. What should the nurse do?
a.
Tell the couple they need to terminate the pregnancy within 2 to 3 weeks.
b.
Explain that the fetus has a 50% chance of having the disorder.
c.
Discuss options, including amniocentesis, to determine whether the fetus is affected.
d.
Refer the couple to a psychologist for emotional support.
C
The nurse is assessing the knowledge of new parents with a child born with maple syrup urine disease (MSUD). The nurse knows that this is an autosomal recessive inherited disorder, which means which of the following?
a.
Both genes of a pair must be abnormal for the disorder to be present.
b.
Only one copy of the abnormal gene is required for the disorder to be present.
c.
The disorder occurs in males and heterozygous females.
d.
The disorder is carried on the X chromosome.
A
During a presentation to obstetric nurses interested in genetics, what does the genetic nurse identify as the primary factor to consider with genetic testing?
a.
Anxiety and altered family relationships
b.
Accessibility related to the availability of genetic testing
c.
High false-positive rates associated with genetic testing
d.
Ethnic and socioeconomic disparity associated with genetic testing
B
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 which of the following? a. Occurrence risk b. Recurrence risk c. Predictive testing d. Predisposition testing
B
Which of the following is a key finding from the Human Genome Project?
a.
Approximately 20,000 to 25,000 genes make up the genome.
b.
All human beings are 95.9% identical at the DNA level.
c.
Human genes produce only one protein per gene; other mammals produce three proteins per gene.
d.
Single gene testing will become a standardized test for all pregnant patients in the future.
A
You are a maternal–newborn nurse caring for a mother who just delivered a baby born with Down syndrome. What nursing diagnosis would be 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
A couple has been counselled for genetic anomalies. They ask you, “What is karyotyping?” What is the nurse’s best response about karyotyping?
a.
“It will reveal if the baby’s lungs are mature.”
b.
“It will predict if your baby will develop normally.”
c.
“It will identify your baby’s gender and information about chromosomes.”
d.
“It will detect any physical deformities the baby has.”
C
In practical terms regarding genetic health care, which of the following should the nurse be aware of?
a.
Genetic disorders equally affect all socioeconomic backgrounds, races, and ethnic groups.
b.
Genetic health care is more concerned with populations than individuals.
c.
It is most important to provide emotional support to the family during genetic counselling.
d.
Taking genetic histories is only done in large university hospital and tertiary-care centres.
C
What should nurses be aware of with regard to prenatal genetic testing?
a.
Integrated prenatal screening can determine risk of carrying a fetus with Down syndrome.
b.
Carrier screening tests are used to look for gene mutations of people already showing symptoms of a disease.
c.
Predisposition testing predicts with near certainty that symptoms will appear.
d.
Presymptomatic testing is used to predict the likelihood of breast cancer.
A
With regard to the estimation and interpretation of the recurrence of risks for genetic disorders, what should nurses be aware of?
a.
With a dominant disorder, the likelihood of the second child also having the condition is 100%.
b.
An autosomal recessive disease carries a one in eight risk of the second child also having the disorder.
c.
Disorders involving maternal ingestion of drugs carry a one in four chance of being repeated in the second child.
d.
The risk factor remains the same no matter how many affected children are already in the family.
D
The nurse must be cognizant that the term for an individual’s genetic makeup is known as which of the following? a. Genotype b. Phenotype c. Karyotype d. Chromotype
A
What should the nurse be aware of with regard to chromosome abnormalities?
a.
They occur in approximately 10% of newborns.
b.
Abnormalities of number are the leading cause of pregnancy loss.
c.
Down syndrome is a result of an abnormal chromosome structure.
d.
Unbalanced translocation results in a mild abnormality that the child will outgrow.
B
A woman’s cousin gave birth to an infant with a congenital heart anomaly. The woman asks the nurse when such anomalies occur during development. Which response by the nurse is most accurate?
a.
“We don’t really know when such defects occur.”
b.
“It depends on what caused the defect.”
c.
“They occur between the third and fifth weeks of development.”
d.
“They usually occur in the first 2 weeks of development.”
C
A pregnant woman at 25 weeks’ gestation tells the nurse that she dropped a pan last week and her baby jumped at the noise. Which response by the nurse is most accurate?
a.
“That must have been a coincidence; babies can’t respond like that.”
b.
“The fetus is demonstrating the aural reflex.”
c.
“Babies respond to sound starting at about 24 weeks of gestation.”
d.
“Let me know if it happens again; we need to report that to your midwife.”
C
