Nokea
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.
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Turner syndrome is suspected in an adolescent girl with short stature. What causes this?
- A. Absence of one of the X chromosomes
- B. Presence of an incomplete Y chromosome
- C. Precocious puberty in an otherwise healthy child
- D. Excess production of both androgens and estrogens
Correct Answer: A
Rationale: Turner syndrome is caused by an absence of one of the X chromosomes. Most girls who have this disorder have one X chromosome missing from all cells. No Y chromosome is present in individuals with Turner syndrome. These young women have 45 rather than 46 chromosomes.
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.
The nurse is teaching parents of a child with cri du chat syndrome about this disorder. The nurse understands parents understand the teaching if they make which statement?
- A. This disorder is very common.
- B. This is an autosomal recessive disorder.
- C. The crying pattern is abnormal and catlike.
- D. The child will always have a moon-shaped face.
Correct Answer: C
Rationale: Typical of this disease is a crying pattern that is abnormal and catlike. Cri du chat, or cats cry, syndrome is a rare (one in 50,000 live births) chromosome deletion syndrome, not autosomal recessive, resulting from loss of the small arm of chromosome 5. In early infancy this syndrome manifests with a typical but nondistinctive facial appearance, often a moon-shaped face with wide-spaced eyes (hypertelorism). As the child grows, this feature is progressively diluted, and by age 2 years, the child is indistinguishable from age-matched control participants.
Parents ask the nurse about the characteristics of autosomal dominant inheritance. Which statement is characteristic of autosomal dominant inheritance?
- A. Females are affected with greater frequency than males.
- B. Unaffected children of affected individuals will have affected children.
- C. Each child of a heterozygous affected parent has a 50% chance of being affected.
- D. Any child of two unaffected heterozygous parents has a 25% chance of being affected.
Correct Answer: C
Rationale: In autosomal dominant inheritance, only one copy of the mutant gene is necessary to cause the disorder. When a parent is affected, there is a 50% chance that the chromosome with the gene for the disorder will be contributed to each pregnancy. Males and females are equally affected. The disorder does not skip a generation. If the child is not affected, then most likely he or she is not a carrier of the gene for the disorder. In autosomal recessive inheritance, any child of two unaffected heterozygous parents has a 25% chance of being affected.
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.