Question 1

A 58-year-old father and a 45-year-old mother gave birth to a baby boy 2 days ago. The nurse assesses a single palmar crease and low-set ears on the newborn. The nurse plans to counsel the couple about which chromosomal abnormality?

Accepted Answer

A)  Trisomy 13 
B)  Trisomy 18 
C)  Trisomy 21 
D)  Trisomy 26 C

Question 2

A married couple of Ashkenazi Jewish descent is pregnant with their first child. For which genetic health problems should the nurse provide teaching in anticipation of further testing?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.

Accepted Answer

A)  Cystic fibrosis 
B)  Beta-thalassemia 
C)  Canavan disease 
D)  Tay-Sachs disease 
E)  Familial dysautonomia A,C,D,E

Question 3

The couple at 12 weeks' gestation has been told that their fetus has sickle cell disease. Which statement by the couple indicates that they are adequately coping?

Accepted Answer

A)  "We knew we were both carriers of sickle cell disease. We shouldn't have tried to have a baby." 
B)  "If we had been healthier when we conceived, our baby wouldn't have this disease now." 
C)  "Taking vitamins before we got pregnant would have prevented this from happening." 
D)  "The doctor told us there was a 25% chance that our baby would have sickle cell disease." D

Question 4

Which couples may benefit from prenatal diagnosis?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.

Accepted Answer

A)  Couples including women under the age of 35 
B)  Couples with an unbalanced translocation 
C)  Couples with a family history of a known or suspected single-gene disorder 
D)  Couples including women with a teratogenic risk secondary to an exposure or maternal health condition 
E)  Family history of birth defects and/or intellectual disability

Question 5

A pregnant client asks the nurse, "What is this "knuckle test" that is supposed to tell whether my baby has a genetic problem?" What does the nurse correctly explain?

Accepted Answer

A)  "In the first trimester, the nuchal translucency measurement is used to improve the detection rate for Down syndrome and trisomy 18." 
B)  "You will need to ask the physician for an explanation." 
C)  "It tests for hemophilia A or B." 
D)  "It tests for Duchenne muscular dystrophy."

Question 6

The nurse is providing care to several pregnant clients at an O B-G Y N clinic. Which client might benefit from prenatal diagnostic testing?

Accepted Answer

A)  Paternal age of 35 years 
B)  Maternal age of 30 years 
C)  Family history of anxiety 
D)  Family history of cystic fibrosis

Question 7

A family has the following inherited disorder. What information should the nurse review with this family?

Accepted Answer

A)  There are various degrees of presentation 
B)  The disorder will become milder in subsequent generations 
C)  This is seen in consanguineous mating 
D)  There is no male-to-male transmission

Question 8

A nurse counsels a couple on sex-linked disorders. Both the man and the woman are carriers of the disorder. They ask the nurse how this disorder will affect any children they might have. What is the nurse's best response?

Accepted Answer

A)  "If you have a daughter, she will not be affected." 
B)  "Your son will be affected because the father has the disorder." 
C)  "There is a 25% chance that your son will have the disorder because the mother has the disorder." 
D)  "There is a 50% chance that your son will be a carrier only."

Question 9

A newborn has been diagnosed with a disorder that occurs through an autosomal recessive inheritance pattern. The parents ask the nurse, "Which of us passed on the gene that caused the disorder?" What should the nurse tell them?

Accepted Answer

A)  The female 
B)  The male 
C)  Neither 
D)  Both

Question 10

The nurse is reviewing preconception questionnaires in charts. Which couple are the most likely candidates for preconceptual genetic counseling?

Accepted Answer

A)  Wife is 30 years old, husband is 31 years old 
B)  Wife and husband are both 29 years old, first baby for husband, wife has a normal 4-year-old 
C)  Wife's family has a history of hemophilia 
D)  Single 32-year-old woman is using donor sperm

Question 11

A couple is at the clinic for preconceptual counseling. Both parents are 40 years old. The nurse knows that the education session has been successful when the wife makes which statement(s)?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.

Accepted Answer

A)  "We are at low risk for having a baby with Down syndrome." 
B)  "Our children are more likely to have genetic defects." 
C)  "Children born to parents our age have sex-linked disorders." 
D)  "The tests for genetic defects can be done early in pregnancy." 
E)  "It will be almost impossible for us to conceive a child."

Question 12

Couples at risk for having a detectable single gene or chromosomal anomaly may wish to undergo which procedure?

Accepted Answer

A)  Preimplantation genetic screening (P G S) 
B)  Preimplantation genetic diagnosis (P G 
D)  
C)  Intracytoplasmic sperm injection (I C S I) 
D)  Gamete intrafallopian transfer (G I F T)

Exam 10: Reproductive Genetics