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

Accepted Answer

The single palmar crease and low-set ears are characteristic features of Down syndrome, which is caused by Trisomy 21. These physical markers, along with the advanced maternal age, increase the likelihood of this chromosomal abnormality.

Question 2

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.
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."

Accepted Answer

As parents age, the risk of genetic defects, including chromosomal abnormalities like Down syndrome, increases. Genetic testing can be done early in pregnancy to detect such defects.

Question 3

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

Accepted Answer

C) A family history of hemophilia, a genetic disorder, makes this couple the most likely candidates for preconceptual genetic counseling to assess the risk of passing the condition to their offspring.

Question 4

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

Accepted Answer

In an autosomal recessive inheritance pattern, both parents must carry one copy of the mutated gene and pass it on to their child for the child to express the disorder. Each parent is typically an asymptomatic carrier.

Question 5

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

Accepted Answer

The answer of Which couples may benefit from prenatal diagnosis?
Note:...

Question 6

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

Accepted Answer

The nurse should review that there are various degrees of presentation, as inherited disorders can manifest differently in each individual.

Question 7

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

Accepted Answer

Preimplantation genetic diagnosis (PGD) is specifically designed to detect single gene or chromosomal anomalies in embryos before pregnancy, allowing couples at risk for such conditions to avoid passing them on to their offspring.

Question 8

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?
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."

Accepted Answer

The "knuckle test" is likely a misunderstanding or miscommunication about the nuchal translucency test, which is a measurement taken via ultrasound in the first trimester of pregnancy. This measurement can help in assessing the risk of the baby having Down syndrome (trisomy 21) or trisomy 18, among other conditions, by evaluating the fluid at the back of the fetus's neck. Choices B, C, and D do not accurately describe this test.

Question 9

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

Accepted Answer

Ashkenazi Jewish populations have a higher prevalence of certain genetic disorders, including Cystic Fibrosis, Canavan Disease, Tay-Sachs Disease, and Familial Dysautonomia. Beta-thalassemia is more common in Mediterranean, African, and Southeast Asian populations, not specifically in Ashkenazi Jews.

Question 10

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?
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."

Accepted Answer

The correct statement, "The doctor told us there was a 25% chance that our baby would have sickle cell disease," indicates an understanding of the genetic risk associated with both parents being carriers of the sickle cell trait. This understanding reflects adequate coping by acknowledging the genetic nature of the condition rather than blaming themselves or incorrect causes.

Question 11

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

Accepted Answer

A family history of cystic fibrosis, a genetic disorder, is a strong indication for prenatal diagnostic testing to assess the fetus's risk of inheriting the condition.

Question 12

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?
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."

Accepted Answer

The disorder is sex-linked, which means it is carried on the X chromosome. The man has one X chromosome and one Y chromosome, so he can only be a carrier of the disorder. The woman has two X chromosomes, so she can be either a carrier or affected with the disorder. If the woman is a carrier, there is a 50% chance that her son will be a carrier only.

Quiz 10: Reproductive Genetics

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?

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.

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

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?

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

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

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

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?

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.

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?

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?

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?