Nursing role in genetic assessment and counselling

Question 1

1. Nurse Hailey is providing genetic counseling for an expectant couple who already have a child with trisomy 18. The nurse should:
   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.

Answer 1

C. Discuss options with the couple, including amniocentesis to determine whether the fetus is affected or not.

Question 2

2. Mr. & Mrs. Sanders has been counseled for genetic anomalies. They ask you, “What is karyotyping?” Your best response is:
   a. “Karyotyping will reveal if the baby’s lung are mature.”
   b. “Karyotyping will reveal if your 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.”

Answer 2

C. karyotyping will provide information about the gender of the baby, and the number and structure of the chromosomes.

Question 3

3. With regard to the estimation and interpretation of the recurrence of risks for genetic disorders, nurses should be aware that:
   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.

Answer 3

D. The risk factor remains the same no matter how many affected children are already in the family.

Question 4

4. Glory’s cousin gave birth to an infant with a congenital heart anomaly. Glory 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.”

Answer 4

C. They occur between the third and fifth weeks of development.

Question 5

5. What best describes the pattern of genetic transmission known as autosomal recessive inheritance?
   a. Disorders in which the abnormal gene for the trait is expressed even when the other member of the pair is
   normal
   b. Disorders in which both genes of a pair must be abnormal for the disorder to be expressed
   c. Disorders in which a single gene controls the particular trait
   d. Disorders in which the abnormal gene is carried on the X chromosome

Answer 5

B. Disorders in which both genes of pair must be abnormal for the disorder to be expressed.

Question 6

6. Jena, 36 year old female just had an amniocentesis to determine whether or not her baby has an inheritable genetic disease. Which of the following intervention is highest priority at this time?
   a. Assess the fetal heart rate
   b. Check the client’s temperature
   c. Answer questions regarding the genetic abnormality
   d. Acknowledge the client’s anxiety about the possible findings

Answer 6

A. Assess the fetal heart rate

Question 7

7. Mrs. Wright at 35 weeks of gestation has had an amniocentesis. The results reveal that surface-active
   phospholipids are present in the amniotic fluid. The nurse is aware that this finding indicates:
   a The fetus is at risk for Down syndrome.
   b. The woman is at high risk for developing preterm labor.
   c. Lung maturity.
   d. Meconium is present in the amniotic fluid

Answer 7

C. Lung Maturity

Question 8

8. Which of the following assessment findings would lead the nurse to suspect Down syndrome in an infant?
   a. Transverse palmar crease
   b. Small tongue
   c. Large nose
   d. Restricted joint movement

Answer 8

A. Transverse Palmar Crease

Question 9

9. Zola, a 29 year old mother has recently been informed that her child has Down’s syndrome. You will be assigned to care for the child at shift change. Which of the following characteristics is not associated with Down’s
syndrome?
a. Simian crease
b. Brachycephaly
c. Hypotonicity
d. Oily skin

Answer 9

D. Oily skin

Question 10

10. When planning care for a 9-year-old boy with Down syndrome, the nurse should:
    a. Plan interventions according to the developmental level of a 8-year-old child because that’s the child’s age
    b. Plan interventions according to the developmental levels of a 6-year-old because the child will have
    developmental delays
    c. Assess the child’s current developmental level and plan care accordingly
    d. Direct all teaching to the parents because the child can’t understand

Answer 10

C. Assess the child’s current development level and plan care accordingly.