Question 1

A female patient learns that she is the carrier of the X-linked recessive disease hemophilia A. Her spouse is free of the disease. What should the nurse teach the patient about the frequency of this disease in future children?

A) All male children will inherit it.
B) All female children will be carriers like she is.
C) All male children will have a 50% risk to inherit the disease.
D) All female children will have a 50% risk to inherit the disease.

All male children will have a 50% risk to inherit the disease.

Accepted Answer

In X-linked recessive diseases such as hemophilia A, females who inherit the affected gene will be heterozygous, and, because a normal gene is also present, the expression of the disease will be blocked. But because males have only one X chromosome, the disease will be manifested in any male children who receive the affected gene from their mother. If the mother has the affected gene on one of her X chromosomes and the father is disease free, the chances are 50% a male child will manifest the disease and 50% a female child will carry the disease gene. All male children will not inherit the disease.
All female children will not be a carrier of the disease. Females will not inherit the disease.

Question 2

A married couple is beginning genetic counseling. What should the nurse instruct the couple regarding expectations from this process? (Select all that apply.)&#10;A) The results will be provided to the couple only.&#10;B) The results will be provided as quickly as possible.&#10;C) The married couple makes the decision to participate in the process.&#10;D) Medically recommended procedures will be immediately scheduled.&#10;E) The married couple will sign informed consent forms for procedures.

Accepted Answer

Legal responsibilities of genetic testing, counseling, and therapy include the results will not be withheld and given to the persons directly involved; the results will be provided as quickly as possible; participation in genetic screening is elective; and those desiring genetic screening must sign an informed consent for the procedures. After genetic counseling, persons are not to be coerced to undergo procedures; therefore, medically recommended procedures will not be immediately scheduled.

Question 3

Both people in a married couple carry the recessive gene for cystic fibrosis. When asked about the incidence of any children developing the disorder, what should the nurse respond?&#10;A) &#34;There is no chance.&#34;&#10;B) &#34;There is a 1 in 4 chance.&#34;&#10;C) &#34;There is a 2 in 4 chance.&#34;&#10;D) &#34;There is a 3 in 4 chance.&#34;

Accepted Answer

In autosomal recessive inheritance, the disease will not occur unless both parents have recessive genes for the disorder. There is a 25% chance a child born to the couple will be disease and carrier free; a 50% chance the child will be, like the parents, free of disease but carrying the unexpressed disease gene; and a 25% chance the child will have the disease, or a 1 in 4 chance. With the recessive gene carried by both parents, the chances of children developing the disease are not 2 in 4, 3 in 4, or 0 in 4.

Question 4

The nurse is visiting a family who has a child with a genetic disorder. The oldest daughter in the family is planning marriage within the next few months. Which intervention should the nurse include that would support the 2020 National Health Goals for genetic disease?

A) Counsel the daughter to have no children.
B) Encourage the daughter to have genetic counseling.
C) Discuss voluntary sterilization options prior to marriage.
D) Explain that the chance of genetic anomalies in children is slim.

Accepted Answer

To support the 2020 National Health Goals for genetic anomalies, the nurses can help achieve these goals by being sensitive to the need for and educating parents about genetic screening in preconceptual settings. This means that the nurse should encourage the daughter to have genetic counseling. It is outside of the nurse's scope of practice to counsel the daughter to remain childless or undergo voluntary sterilization. The nurse would not know the daughter's chances of having a child with a genetic disorder unless genetic testing is performed.

Question 5

A pregnant patient has been counseled to have an amniocentesis. For which genetic conditions should the nurse instruct the patient that this diagnostic test will detect?&#10;A) Impetigo&#10;B) Trisomy 21&#10;C) Diabetes mellitus&#10;D) Phenylketonuria

Accepted Answer

Trisomy 21 or Down syndrome is the most common genetic disorder that can be detected through examination of amniotic fluid obtained through amniocentesis. Impetigo, diabetes mellitus, and phenylketonuria cannot be diagnosed through examination of amniotic fluid.

Question 6

The nurse is making a home visit to a family with a child born with a genetic abnormality. Which observation in the home indicates to the nurse that the parents are adjusting to the newborn's health problems?

A) The father walks by the bassinet.
B) The father leaves during the visit.
C) The mother holds the baby during the visit.
D) The mother sits on the sofa while the baby cries.

Accepted Answer

Evidence that the parents are adjusting to the newborn with the genetic abnormality is the mother holding the baby during the visit. The father walking by the bassinet or leaving during the visit does not indicate adjustment. The mother sitting on the sofa while the baby cries does not indicate that the mother is adjusting to the newborn's health problems.

Question 7

A young married woman says that she is planning a tubal ligation because mental retardation runs in her husband's family and she does not want any children with this problem. Which nursing diagnosis would best apply to this couple?

A) Anxiety related to marital issues
B) Deficient knowledge of genetically inherited disorders
C) Spiritual distress related to inappropriate approach to the issue of having children
D) Sexual dysfunction related to the possibility of having a cognitively impaired child

Accepted Answer

The young woman is making a decision to not have children without having information about her husband's family and the people who have mental retardation. This is a knowledge deficit and is the most appropriate diagnosis for this couple. This situation does not support the diagnoses of anxiety, spiritual distress, or sexual dysfunction.

Question 8

After an assessment, a couple planning marriage decides to schedule an appointment for genetic counseling in several months. Which information from the assessment would support this couple's decision? (Select all that apply.)

A) The male and female are second cousins.
B) The male has a friend who has hemophilia.
C) The female has a foster brother with sickle-cell anemia.
D) The male and female are both of Mediterranean descent.
E) The female's sister gave birth to a baby with Down syndrome.

Accepted Answer

Couples who are most apt to benefit from a referral for genetic testing or counseling include a closely related couple, are of ethnic backgrounds in which specific illnesses are known to occur, and those whose close relatives have a child with a genetic disorder. Having a friend with hemophilia and a foster brother with sickle-cell anemia would not support the couple's decision to have genetic counseling.

Question 9

A patient becomes concerned upon learning for the need to have a karyotype performed. What should the nurse explain to this patient about this test? (Select all that apply.)&#10;A) It photographs and displays chromosomes.&#10;B) It is procedure done on all pregnant women.&#10;C) It reveals diseases present on chromosomes.&#10;D) It can only be done during the first trimester of pregnancy.&#10;E) It guarantees that a fetus will not be ill from a genetic disorder.

Accepted Answer

A karyotype photographs and displays chromosomes and is done to reveal diseases on chromosomes only. A karyotype is not performed on all pregnant women, but only those in which a genetic anomaly is suspected. The karyotype can be performed at any time during gestation and does not guarantee that a fetus will not be ill from a genetic disorder.

Question 10

The nurse is beginning an assessment to determine a couple's chances of having offspring with genetic anomalies. What should the nurse include in this assessment? (Select all that apply.)&#10;A) Age of the female member of the couple&#10;B) Diseases in the family that span three generations&#10;C) Ethnic background of both members of the couple&#10;D) Minimal expression of a previously undiagnosed disorder&#10;E) Employment status of the male member of the couple

Accepted Answer

When conducting a health history assessment in anticipation of genetic counseling, the nurse will assess the age of the female member of the couple because some genetic anomalies are more common in older female patients. The nurse will also assess the couple for diseases that span three generations in both of the families and will assess the couple's individual ethnic backgrounds. Physical assessment can identify minimal expression of a disorder that has gone previously undiagnosed. Employment status is not typically a part of the health history in preparation for genetic counseling.

Question 11

During an assessment, the nurse suspects a newborn has a chromosomal disorder. What did the nurse most likely assess in the baby?&#10;A) Short neck&#10;B) Bowed legs&#10;C) Low-set ears&#10;D) Slanting of the palpebral fissure

Accepted Answer

The answer of During an assessment, the nurse suspects a...

Question 12

A pregnant patient learns that her fetus has a genetic anomaly that will affect cognitive and musculoskeletal development. The patient is meeting with her spouse and the nurse and wants to know what options are available to them. What is the first thing that the nurse needs to do to help this couple with decision making?

A) Suggest routes to terminate pregnancy.
B) Assist the couple in identifying their values.
C) Analyze the opinions of extended family members.
D) Explain health care options for the baby going forward.

Accepted Answer

The answer of A pregnant patient learns that her fetus...

Question 13

A child is diagnosed with an X-linked dominant inheritance disorder. What should the nurse explain to the parents about this disorder?&#10;A) It only affects male offspring.&#10;B) It appears in every generation.&#10;C) All children of the couple will be affected.&#10;D) Diseases caused by this disorder are not life threatening.

Accepted Answer

The answer of A child is diagnosed with an X-linked...

Question 14

What should the nurse include when counseling potential parents about genetic disorders?&#10;A) Environmental influences may affect multifactorial inheritance.&#10;B) Genetic disorders primarily follow Mendelian laws of inheritance.&#10;C) All genetic disorders involve a similar number of abnormal chromosomes.&#10;D) The absence of genetic disorders in both families eliminates the possibility of having a child with a genetic disorder.

Accepted Answer

The answer of What should the nurse include when counseling...

Question 15

The results of a pregnant patient's quadruple screen were positive, and an amniocentesis was performed. The amniocentesis report states no genetic anomalies present. What should the nurse do to assist this patient understand the test results?

A) Reassure that the report of the amniocentesis is valid.
B) Suggest that additional testing be performed on the fetus.
C) Explain that most of quadruple screens are falsely positive.
D) Remind that 30% of amniocentesis screens are falsely positive.

Accepted Answer

The answer of The results of a pregnant patient's quadruple...

Deck 7: The Nursing Role in Genetic Assessment and Counseling