Georgia Military College

PATHO HCR 240

Patho- Ch 5 -Quiz

1)When parents give birth to a child with a defect, they focus on getting answers to which two priority issues?

2. Genetic counseling and prenatal screening are tools both for the parents of a child with a defect and for those couples who want a child but are at high risk for having a child with a genetic problem. What are the objectives of prenatal screening?

3. The nurse teaches the pregnant radiation technologist that excessive levels of radiation have been shown to cause which conditions?
   1. Microcephaly
   2. Skeletal malformations
   3. Intellectual disability

4. A nurse reading an epidemiological study sees that syndactyly is a genetic mutation with 75% penetrance. What does this mean for the client?

5. A couple who are pregnant with their first child have made an appointment with a clinical geneticist to discuss prenatal screening. The man states that they “just want to make sure that there is nothing wrong with our baby.” How could the clinician best respond to this statement?

6. A sonogram on a woman in the first trimester of her pregnancy shows abnormal fetal findings. The nurse prepares to provide the woman with information concerning which diagnostic procedure?

7. Select the screening procedure performed on newborns to decrease the risk of intellectual disability and compromised neurological development.

8. Following routine newborn testing, an infant has been diagnosed with an elevated phenylalanine level. The nurse teaches the parents to follow a strict low-protein diet to prevent which major complication for the infant?

9. A nurse is caring for an infant born with a cleft lip and palate. The priority of care would address:

10. Abnormalities of body structure, function, or metabolism that are present at birth are known as:

11. Which disease is caused by a genetic defect of chloride transport?

12. A client goes to radiology for a series of x-rays. As the lead apron is placed over the client, he asks why it is needed. The client should be told that the vest is to protect:

13. The parents of a newborn are relieved that their baby was born healthy, with the exception of a cleft lip that will be surgically corrected in 10 to 12 weeks. Which statement by the nurse to the parent’s best conveys the probable cause of the newborn's cleft lip?

14. A nurse is explaining health promotion and disease prevention measures to a group of women in a prenatal class. What advice best addresses the risk of disorders due to environmental influences?

15. A nurse is performing a head-to-toe assessment of a newborn with Down syndrome. Which assessment finding should the nurse bring to the attention of the health care provider?

16. The parents of an infant boy ask the nurse why their son was born with a cleft lip and palate. The nurse responds that cleft lip and palate are defects that are caused by many factors. The defect may also be caused by teratogens. Which teratogens can cause cleft lip and palate?

17. A nurse is teaching a pregnant client about teratogenic drugs. Which drug category will the nurse emphasize for the client to avoid during pregnancy?

18. Which medications are teratogenic agents?
    1. Accutane
    2. Tetracycline
    3. Methotrexate

19. Teratogenic substances cause abnormalities during embryonic and fetal development. These substances have been divided into three classes. These classes are called:

20. When can a teratogenic environmental agent cause birth defects?

21. The most critical time for teratogenic influence in embryonic development is:

22. What statement is true concerning embryonic development?

23. Which variables determine the extent of teratogenic drug effects?
    1. Duration of drug exposure
    2. Molecular weight of the drug
    3. Stage of fetal development at time of exposure

24. The nurse teaches a woman planning on getting pregnant that it is most important to stay away from potential teratogens during which period in embryonic development?

25. The embryo is most susceptible to adverse influences during the period from 15 to 60 days after conception. Which term is used to describe this period?

26. Which risk factor increases the chances of the development of a neural tube defect during embryonic development?

27. A pregnant client’s α-fetoprotein (AFP) returns elevated. The couple ask the health care worker to explain what this means. Which is the best response?

28. The nurse is teaching a class of pregnant woman about nutrition, emphasizing their need for folic acid. The nurse's rationale for this relates to prevention of which birth defect?

29. Fortification of foods with folic acid has resulted in a significant reduction in the incidence of:

30. After attending a preconception workshop, a young woman asks the educator to explain neural tube defects (NTD). Which conditions are examples of neural tube defects?
    1. Spina bifida
    2. Anencephaly
    3. Encephalocele

31. After studying genetic disorders, the pathophysiology student knows that which of the following is true?

32. Which of these defines a genotype?

33. The nurse is evaluating teaching provided to a parent of a male newborn with a karotype of 47, XXY. Which statement indicates more teaching is needed?

34. Which diagnostic procedures can be used to collect cells that can be used for fetal karyotyping?
    1. Amniocentesis

1. 2. Chorionic villus sampling
   3. Percutaneous umbilical cord blood sampling

35. A pregnant client has just undergone cytogenetic studies to determine fetal karyotyping. She learns that her fetus has trisomy 21. Which of the following is a manifestation of this condition?

36. A child diagnosed with Down syndrome has experienced a chromosomal abnormality involving which trisomy?

37. A 41-year-old woman has made the recent decision to start a family and is eager to undergo testing to mitigate the possibility of having a child with Down syndrome. Which test is most likely to provide the data the woman seeks?

38. The nurse is caring for a client who tried to become pregnant but suffered a spontaneous abortion (miscarriage) during her first trimester. What is the most likely etiology of the client's abortion?

39. A pregnant client is just completing her first trimester and has opted for alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) testing. The nurse should identify what implication from this client's decision?

40. Decreased levels of maternal serum alpha-fetoprotein (AFP) have been associated with which disorder?

41. The provider caring for a 38-year-old pregnant client wants to determine if the child will have Down syndrome. Which prenatal test is used to diagnose this condition?

42. A nurse is conducting a community education program on birth defects. The nurse determines that the participants need to learn more when they state that    is an autosomal recessive disorder.

43. Both members of a couple are carriers of an autosomal recessive trait. What will the nurse teach the couple about the risk of their child being affected?

44. The health care provider informs the client that she is at risk for developing an autosomal recessive disorder. For which disorder may the client be at risk?

45. The health care provider is assessing a 6-month-old infant. The parents state that the child appeared normal at birth and in the first few months; however, they have seen the following changes in their infant: progressive weakness, muscle flaccidity, and decreased attentiveness. The health care provider suspects:

46. Which action is an appropriate intervention by a nurse working with the parents of an infant newly diagnosed with Tay-Sachs disease?

47. Which statement is true with regard to autosomal recessive disorders?

48. The pregnant client asks if there are any precautions she should take in caring for the family cat. The nurse explains that she should limit contact with the cat's litter box. The litter box may contain which organism that can cause fetal malformations?

49. A pregnant mother (16 weeks’ gestation) forgot and emptied her cat’s litter box without gloves. She is extremely anxious and wants to be tested right away. Which test would the nurse prepare her for that would give rapid cytogenic analysis?

50. The genetic counselor is explaining structural changes in chromosomes that result from breakage and rearrangement of chromosome parts. The pattern that occurs when there are simultaneous breaks in two chromosomes, from different pairs, with exchange of chromosome parts is:

51. The criteria for fetal alcohol syndrome diagnosis require the documented presence of all of the following except which one?

52. A woman gave birth to a small infant with a malformed skull. The infant grows slowly and shows signs of substantial cognitive and intellectual deficits. The child also has facial abnormalities that become more striking as it develops. What might the nurse expect to find in the mother's pregnancy history?

53. Unlike other teratogens, alcohol exposure during pregnancy (fetal alcohol spectrum disorders) can have what harmful effect on the fetus?

54. While examining a client, the practitioner notices large, flat, cutaneous pigmentations. They are a uniform light brown with sharply demarcated edges. He uses a Wood lamp to better detect the lighter spots. The practitioner knows that the pigmentations may be a component of which disorder?

55. The provider receives fetal karyotype results on one of his clients. The karyotype describes an absence of all or part of the X chromosome. Which condition does the fetus exhibit?

56. The provider is doing genetic counseling with a client. He explains that which condition affects only females?

57. When the mother of an adolescent with Turner syndrome asks the nurse why the physician is prescribing estrogen therapy, the nurse provides which explanation?

58. The mother of a child with Turner syndrome asks the nurse what the physician meant when the disease was explained as monosomy of the X chromosome. The nurse explains the syndrome as having which of the following characteristics?