Nokea
A couple asks the nurse about the optimal time for genetic counseling. They do not plan to have children for several years. When should the nurse recommend they begin genetic counseling?
- A. As soon as the woman suspects that she may be pregnant
- B. Whenever they are ready to start their family
- C. Now, if one of them has a family history of congenital heart disease
- D. Now, if they are members of a population at risk for certain diseases
Correct Answer: D
Rationale: Persons who seek genetic evaluation and counseling must first be aware if there is a genetic or potential problem in their families. Genetic testing should be done now if the couple is part of a population at risk. It is not feasible at this time to test for all genetic diseases. The optimal time for genetic counseling is before pregnancy occurs. During the pregnancy, genetic counseling may be indicated if a genetic disorder is suspected. Congenital heart disease is not a single-gene disorder.
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Parents ask the nurse if there was something that should have been done during the pregnancy to prevent their childs cleft lip. Which statement should the nurse give as a response?
- A. This is a type of deformation and can sometimes be prevented.
- B. Studies show that taking folic acid during pregnancy can prevent this defect.
- C. This is a genetic disorder and has a 25% chance of happening with each pregnancy.
- D. The malformation occurs at approximately 5 weeks of gestation; there is no known way to prevent this.
Correct Answer: D
Rationale: Cleft lip, an example of a malformation, occurs at approximately 5 weeks of gestation when the developing embryo naturally has two clefts in the area. There is no known way to prevent this defect. Deformations are often caused by extrinsic mechanical forces on normally developing tissue. Club foot is an example of a deformation often caused by uterine constraint. Cleft lip is not a genetic disorder; the reasons for this occurring are still unknown. Taking folic acid during pregnancy can help to prevent neural tube disorders but not cleft lip defects.
Which genetic term refers to the transfer of all or part of a chromosome to a different chromosome after chromosome breakage?
- A. Trisomy
- B. Monosomy
- C. Translocation
- D. Nondisjunction
Correct Answer: C
Rationale: Translocation is the transfer of all or part of a chromosome to a different chromosome after chromosome breakage. It can be balanced, producing no phenotypic effects, or unbalanced, producing severe or lethal effects. Trisomy is an abnormal number of chromosomes caused by the presence of an extra chromosome, which is added to a given chromosome pair and results in a total of 47 chromosomes per cell. Monosomy is an abnormal number of chromosomes whereby the chromosome is represented by a single copy in a somatic cell. Nondisjunction is the failure of homologous chromosomes or chromatids to separate during mitosis or meiosis.
A father with an X-linked recessive disorder asks the nurse what the probability is that his sons will have the disorder. Which response should the nurse make?
- A. Male children will be carriers.
- B. All male children will be affected.
- C. None of the sons will have the disorder.
- D. It cannot be determined without more data.
Correct Answer: C
Rationale: When a male has an X-linked recessive disorder, he has one copy of the allele on his X chromosome. The father passes only his Y chromosome (not the X chromosome) to his sons. Therefore, none of his sons will have the X-linked recessive gene. They will not be carriers or be affected by the disorder. No additional data are needed to answer this question.
A couple expecting their first child has a positive family history for several congenital defects and disorders. The couple tells the nurse that they are opposed to abortion for religious reasons. Which should the nurse consider when counseling the couple?
- A. The couple should be encouraged to have recommended diagnostic testing.
- B. The couple needs counseling regarding advantages and disadvantages of pregnancy termination.
- C. Diagnostic testing is required by law in this situation.
- D. Diagnostic testing is of limited value if termination of pregnancy is not an option.
Correct Answer: A
Rationale: The benefits of prenatal diagnostic testing extend beyond decisions concerning abortion. If the child has congenital disorders, decisions can be made about fetal surgery if indicated. In addition, if the child is expected to require neonatal intensive care at birth, the mother is encouraged to deliver at a level III neonatal center. The couple is counseled about the advantages and disadvantages of prenatal diagnosis, not pregnancy termination, although the family cannot be forced to have prenatal testing. The information gives the parents time to grieve and plan for their child if congenital disorders are present. If the child is free of defects, then the parents are relieved of a major worry.
A couple has given birth to their first child, a boy with a recessive disorder. The genetic counselor tells them that the risk of recurrence is one in four. Which statement is a correct interpretation of this information?
- A. The risk factor remains the same for each pregnancy.
- B. The risk factor will change when they have a second child.
- C. Because the parents have one affected child, the next three children should be unaffected.
- D. Because the parents have one affected child, the next child is four times more likely to be affected.
Correct Answer: A
Rationale: Each pregnancy has the same risks for an affected child. Because an odds ratio reflects the risk, this does not change over time. The statement by the genetic counselor refers to a probability. This does not change over time. The statement Because the parents have one affected child, the next child is four times more likely to be affected does not reflect autosomal recessive inheritance.