Genetics

63. A woman is seeking genetic counseling during her pregnancy. She has a strong family history of diabetes mellitus. She wishes to have an amniocentesis to determine whether she is carrying a baby who will "develop diabetes." Which of the following replies would be most appropriate for the nurse to make?

"Although diabetes does have a genetic component, diet and exercise also determine whether or not someone is diabetic."

55. A woman asks the nurse, "My nuchal fold scan results were abnormal. What does that mean?" Which of the following comments is appropriate for the nurse to make at this time?

"An abnormal test indicates that your baby may have a chromosomal disorder."

59. Once oogenesis is complete, the resultant gamete cell contains how many chromosomes?

23

50. A pregnant woman and her husband are both heterozygous for achondroplastic dwarfi sm, an autosomal dominant disease. The nurse advises the couple that their

25% probability.

80. Analyze the pedigree below. Which of the following inheritance patterns does the pedigree depict?

Mitochondrial inheritance.

84. A client's amniocentesis results were reported as 46, XY. Her obstetrician informed her at the time that everything "looks good." Shortly after birth the baby is diagnosed with cerebral palsy. Which of the following responses will explain this result?

Cerebral palsy is not a genetic disease.

62. The nurse is analyzing the three generation pedigree below. In which generation is the proband?

II The proband is in generation II. The proband, or first member of a family to be diagnosed with a specific medical/genetic problem, is identified in a pedigree by an arrow.

68. A nurse has just taken a family history on a 10-week gravid client and created the family pedigree shown below. Which of the following actions should the nurse take at this time?

Encourage the doctor to send her for genetic counseling.

64. A 25-year-old woman, G0 P0000, enters the infertility clinic stating that she has just learned she is positive for the BRCA1 and the BRCA2 genes. She asks the nurse what her options are for getting pregnant and breastfeeding her baby. The nurse should base her reply on which of the following?

Fertility of women who carry the BRCA1 and BRCA2 genes is similar to that of unaffected women.

77. The nurse is analyzing the pedigree shown below. How should the nurse interpret the symbols of the individuals in locations IV-9 and IV-10?

Fraternal twins.

52. A client, G4 P4004, states that her husband has just been diagnosed with polycystic kidney disease (PKD), an autosomal dominant disease. The husband is heterozygous for PKD, while the client has no PKD genes. The client states, "I have not had our children tested because they have such a slim chance of inheriting the disease. We intend to wait until they are teenagers to do the testing." The nurse should base the reply on which of the following?

The woman may be exhibiting signs of denial since each of the couple's children has a 50/50 chance of developing the disease.

90. What is the rationale for testing all neonates for maple syrup urine disease (MSUD) when only 1 in 100,000 to 300,000 children will be born with the disease?

To prevent neurological disease in affected children.

56. A 10-week gravid states that her sister's son has been diagnosed with an X-linked recessive disease, Duchenne muscular dystrophy. She questions the nurse about the disease. Which of the following responses is appropriate for the nurse to make?

"Because Duchenne muscular dystrophy is inherited through the woman, it is advisable for you to see a genetic counselor."

88. A woman is pregnant. During amniocentesis it is discovered that her child has Down syndrome with a mosaic chromosomal confi guration. She asks the nurse what that means. What is the nurse's best response?

"Some of your baby's cells have two number 21 chromosomes and some have three."

54. At her fi rst prenatal visit, a woman relates that her maternal aunt has cystic fi brosis (CF), an autosomal recessive illness. Which of the following comments is appropriate for the nurse to make at this time?

"We can check to see whether or not you are a carrier for cystic fi brosis."

79. Analyze the pedigree below. Which of the following inheritance patterns does the pedigree depict?

Autosomal recessive.

87. A client wants to undergo amniocentesis because she has a family history of breast cancer. Which of the following choices is the most important information for the nurse to discuss with the client regarding the request?

The majority of breast cancers are not inherited.

86. A client is being interviewed prior to becoming pregnant. She states that she has a disease that is transmitted by mitochondrial inheritance. Which of the following statements is consistent with the client's disease?

100% of her children will be affected.

67. A woman who has had multiple miscarriages is advised to go through genetic testing. The client asks the nurse the rationale for this recommendation. The nurse should base his or her response on which of the following?

The majority of miscarriages are caused by genetic defects.

75. The nurse discusses the results of a three generation pedigree with the proband who has breast cancer. Which of the following information must the nurse consider?

The proband is the fi rst member of the family to be diagnosed.

70. During a genetic evaluation, it is discovered that the woman is carrying one autosomal dominant gene for a serious late adult-onset disease, while her partner's history is unremarkable. Based on this information, which of the following family members should be considered high risk and in need of genetic counseling?

1. The woman's fetus. 2. The woman's sisters. 3. The woman's brothers. 4. The woman's parents. NOT: The woman's partner

48. A woman has been advised that the reason she has had a number of spontaneous abortions is because she has an inheritable mutation. Which of the following situations is consistent with this statement?

A client's genetic analysis report revealed a reciprocal translocation. A reciprocal translocation can result in infertility.

85. Most children born into families look similar but are not exactly the same. The children appear different because homologous chromosomes exchange genetic material at which of the following?

Chiasma.

82. A male client has green color blindness, an X-linked recessive genetic disorder. His wife has no affected genes. Which of the following statements by the nurse is true regarding the couple's potential for having a child who is color blind?

All female children will be carriers for color blindness.

57. The genetic counselor informs a couple that they have a 25% probability of getting pregnant with a child with a severe genetic disease. The couple asks the nurse exactly what that means. Which of the following responses by the nurse is appropriate?

Any baby they conceive may have the disease.

58. A client has just had an amniocentesis to determine whether her baby has an inheritable genetic disease. Which of the following interventions is highest priority at this time?

Assess the fetal heart rate.

78. A woman who is a carrier for sickle cell anemia is advised that if her baby has two recessive genes, the penetrance of the disease is 100%, but the expressivity is variable. Which of the following explanations will clarify this communication for the mother? All babies with two recessive sickle cell genes will:

Show some symptoms of the disease but the severity of the symptoms will be individual.

76. The nurse is analyzing the pedigree shown below. How should the nurse interpret the genotype of the individual in location II-4?

Stillborn child.

61. A genetic counselor's report states, "The genetic nomenclature for this fetus is 46, XX." How should the nurse who reads this report interpret the cytogenetic results?

The baby is female with a normal number of chromosomes.

74. A 3-month-old baby has been diagnosed with cystic fi brosis (CF). The mother says, "How could this happen? I had an amniocentesis during my pregnancy and everything was supposed to be normal!" What must the nurse understand about this situation?

The baby may have an uncommon genetic variant of the disease.

47. The nurse is creating a pedigree from a client's family history. Which of the following symbols should the nurse use to represent a female?

The circle is the symbol used to represent the female.

65. A woman asks a nurse about presymptomatic genetic testing for Huntington disease. The nurse should base her response on which of the following?

If the woman is positive for the gene for Huntington, she will develop the disease later in life.

49. Which of the following client responses indicates that the nurse's teaching about care following chorionic villus sampling (CVS) has been successful?

If the woman starts to bleed or to contract, she should call her physician.

66. A woman, who has undergone amniocentesis, has been notifi ed that her baby is XX with a 14/21 robertsonian chromosomal translocation. The nurse helps the woman to understand which of the following?

It is likely that the baby will be unable to have children when she grows up.

72. A man has inherited the gene for familial adenomatous polyposis (FAP), an autosomal dominant disease. He and his wife wish to have a baby. Which of the following would provide the couple with the highest probability of conceiving a healthy child?

Preimplantation genetic diagnosis.

89. Which of the following is an attainable short-term goal for an 8-week gravid client who has a family history of cystic fi brosis?

Seek out genetic counseling.

69. A woman is informed that she is a carrier for Tay-Sachs disease, an autosomal recessive illness. What is her phenotype?

She exhibits no symptoms of the disease.

60. Based on the karyotype shown below, which of the following conclusions can the nurse make about the female baby?

She has trisomy 21. The baby has three number 21 chromosomes.

51. A couple inquire about the inheritance of Huntington disease (HD) because the prospective father's mother is dying of the illness. There is no history of the disease in his partner's family. The man has never been tested for HD. Which of the following responses by the nurse is appropriate?

"Because neither of you has been tested for HD, the most information I can give you is that each and every one of your children may have the disease."

71. Which statement by a gravid client who is a carrier for Duchenne muscular dystrophy, an X-linked recessive disease, indicates that she understands the implications of her status?

"If I have a girl, she will be healthy."

93. A client, 11 weeks' gestation, is preop for chorionic villus sampling (CVS). The woman is very anxious that the baby will be injured during the procedure. Which of the following statements would be appropriate for the nurse to make?

"It is unlikely that the baby will be injured because before inserting the needle, the doctor will locate the baby and placenta using ultrasound."

73. A woman asks the obstetrician's nurse about cord blood banking. Which of the following responses by the nurse would be best?

"The cord blood is frozen in case your baby develops a serious illness in the future."

91. A pregnant client asks the nurse, "I heard that you can determine the health of my baby by taking some blood from me. Is that true?" Which of the following responses by the nurse is appropriate?

"The only tests that can positively determine whether a baby has a chromosomal defect require analysis of your baby's skin cells."

81. The nurse is counseling a pregnant couple who are both carriers for phenylketonuria (PKU), an autosomal recessive disease. Which of the following comments by the nurse is appropriate?

"There is a 2 out of 4 chance that your child will be a carrier like both of you."

53. A woman is a carrier for hemophilia A, an X-linked recessive illness. Her husband has a normal genotype. The nurse can advise the couple that the probability that their daughter will have the disease is:

0% probability

92. A client, who is planning to become pregnant, tells the nurse, "I am so scared. My brother, who was born 2 years after I was, died a month after he was born. My mother says that he had a very serious genetic defect. I don't know what to do." Which of the following responses are appropriate for the nurse to make?

1. "There are a number of tests that can be performed during your pregnancy to screen the baby for genetic diseases." 2. "I will discuss your concerns with your obstetrician. I am sure your doctor will refer you to a genetic counselor who hopefully will be able to help you."

83. A woman whose blood type is O − (negative) states, "My husband is AB+ (positive)." The mother queries the nurse about what blood type the baby will have. Which of the following blood types should the nurse advise the mother that the baby may have? Select all that apply.

1. "Your baby could be type A+ (positive)." 2. "Your baby could be type B − (negative)."