NUR 300 WI Maternity & Women’s Health Care 12th Edition (2019/2020) - Chapter 3 – Central Michigan University | Nursing and Genomics

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NUR 300 WI Maternity & Women’s Health Care 12th Edition - Chapter 3 – Central Michigan University Chapter 3: Nursing and Genomics MULTIPLE CHOICE 1. A father and mother are carriers o... f phenylketonuria (PKU). Their 2-year-old daughter has the condition. The couple tells the nurse that they are having a second baby. Because their daughter has PKU, they are certain that this baby will not be affected. Which response by the nurse is the most accurate? a. Good planning. You need to take advantage of the odds that are in your favor. b. I think youd better first check with your physician. c. You are both carriers; therefore, each baby has a 25% chance of being affected. d. The ultrasound indicates a boy, and boys are not affected by PKU. Each child conceived by this couple has a one-in-four chance of being affected with the PKU disorder. This couple still has an increased likelihood of having a child with PKU; having one child already with PKU does not guarantee that they will not have another. These parents need to discuss their options with their physician. However, an opportune time has presented itself for the couple to receive correct teaching about inherited genetic risks. No correlation exists between gender and inheritance of the disorder, because PKU is an autosomal recessive disorder. DIF: Cognitive Level: Apply REF: IMS: 51 TOP: Nursing Process: Planning MSC: Client Needs: Health Promotion and Maintenance 2. A client is 5 months pregnant. On a routine ultrasound scan, the physician discovers that the fetus has a diaphragmatic hernia. The woman becomes distraught and asks the nurse what she should do. Which response would be most suitable? a. Talk to the client, and refer her to a genetic counselor. b. Suggest that the client travel to a fetal treatment center for intrauterine surgery. c. Tell her that everything is going to be fine. d. Sit with the client, and calmly suggest that she consider terminating this pregnancy. Before the client makes any decisions, she should discuss this newly discovered information with a genetic counselor. Genetic counselors can help with the diagnosis and management of families affected by genetic conditions. The discussion of potential surgery should be pursuant to genetic counseling. Telling the woman that everything is going to be fine may give her false hope and is not accurate. All options should be discussed with the genetic counselor. Furthermore, the guiding principle for genetic counseling is nondirection, which respects the right of the individual or family who are being counseled to make autonomous decisions. DIF: Cognitive Level: Apply REF: IMS: 54 TOP: Nursing Process: Planning MSC: Client Needs: Health Promotion and Maintenance 3. A client who is gravida 2 and 16 weeks of gestation comes in for her prenatal appointment. Her 2-year-old daughter is with her and is wearing a sleeveless top. While interacting with her daughter, you note axillary freckling and several caf-au-lait spots (>2 cm). In reviewing her chart, the nurse should assess for documentation of which genetic disease? a. Tay-Sachs disease b. Galactosemia c. Neurofibromatosis (NF) d. PKU Clinical manifestations of NF may include axillary freckling and caf-au-lait spots. Tay-Sachs disease is an incurable lipid-storage disorder and is not associated with caf-au-lait spots. Galactosemia is an inborn error of metabolism and is also not associated with caf-au-lait spots. PKU is not associated with caf-au-lait spots. A child with PKU would have difficulty manufacturing the liver enzyme phenylalanine. DIF: Cognitive Level: Remember REF: IMS: 51 TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance 4. A new father has just been told that his infant has trisomy 18. Which identifying physical feature is unique to an infant with this genetic disorder? a. Microcephaly and capillary hemangiomas b. Epicanthal folds and a simian crease c. Oblique palpebral fissures and Cri du chat syndrome d. Rocker-bottom feet and clenched hands with overlapping fingers Rocker-bottom feet and clenched hands with overlapping fingers are associated with trisomy 18. Microcephaly and capillary hemangiomas are associated with trisomy 13. Epicanthal folds and a simian crease are associated with trisomy 21 (Down syndrome). Deletion of the short arm of chromosome number 5 is manifested by Cri du chat syndrome. DIF: Cognitive Level: Understand REF: IMS: 49 TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance 5. A nurse is assessing the knowledge of new parents of a child born with Klinefelter syndrome. Which statement accurately describes this genetic disorder? a. Klinefelter syndrome is a sex chromosome abnormality. b. It affects only female children. c. The disorder is expressed as trisomy XYY. d. The child with this disorder will grow to be infertile. Klinefelter syndrome, also known as trisomy XXY, is a sex chromosomal deviation that is expressed in males. Turner syndrome (monosomy X) is displayed in females. Most males with Klinefelter syndrome are tall, may be infertile, and are slow to learn; however, those who have mosaic Klinefelter syndrome may be fertile as adults. DIF: Cognitive Level: Understand REF: IMS: 50 TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance 6. Which factor is least likely to influence the decision to undergo genetic testing? a. Anxiety and altered family relationships b. Cost of testing or denial of insurance benefits c. Imperfection of test results d. Ethnic and socioeconomic disparity associated with genetic testing Testing is not 100% accurate and has a high percentage of false-negative results. An individual may not take these results seriously and subsequently fail to have testing completed or to seek necessary follow-up consultation. Anxiety and altered family relationships are often the result of genetic testing. The results of genetic testing may be difficult to keep confidential, and family members may feel pressured to have testing performed. Decisions about genetic testing are shaped by socioeconomic status and the ability to pay for the testing. Some types of genetic testing are expensive and are not covered by insurance benefits. Caucasian middle-class families have greater access to genetic screening; therefore, this population is less at likely to decide against genetic testing. DIF: Cognitive Level: Understand REF: IMS: 54 TOP: Nursing Process: Implementation MSC: Client Needs: Health Promotion and Maintenance 7. A 32-year-old woman is pregnant for the third time. One child was born with cystic fibrosis, and the other child is healthy. The client and her husband wonder what chance this child has of having cystic fibrosis. This type of testing is most commonly known as what? a. Occurrence risk b. Recurrence risk c. Predictive testing d. Predisposition testing The couple already has a child with a genetic disease; therefore, this couple will be given a recurrence risk test. If a couple has not yet had a child but is known to be at risk for having a child with a genetic disease, then an occurrence risk test is administered. Predictive testing clarifies the genetic status of an asymptomatic family member. Predisposition testing differs from presymptomatic testing in that a positive result does not indicate 100% risk of a condition developing. DIF: Cognitive Level: Understand REF: IMS: 54 TOP: Nursing Process: Planning MSC: Client Needs: Health Promotion and Maintenance 8. Cancer is now recognized as a genetic disorder that begins with one or more genetic mutations. Which type of cancer is specifically being investigated in this regard? a. Lung cancer b. Liver cancer c. Colorectal cancer d. Oral cancer Colorectal cancer usually results from one or more predisposing genes and is the third leading cause of cancer deaths in women. Although tobacco smoke is a known causative factor for lung cancer, an acquired mutation of an oncogene may also be present. Liver cancer is not being investigated in this regard. Oral cancer may be caused by an inherited mutation of one or more oncogenes. DIF: Cognitive Level: Remember REF: IMS: 53 TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance 9. Which statement describes a key finding of the Human Genome Project? a. Humans produce one protein per gene. b. All human beings are 99.9% identical at the deoxyribonucleic acid (DNA) level. c. The Human Genome Project has not yet been able to translate the accumulating raw research into anything medically practical. d. Humans have more genes than other species. The majority of the 0.1% genetic variations are found within and not among populations. Most human genes produce at least three proteins. The projects research has been very valuable in the identification of genes involved in disease and in the development of genetic testing. There are 20,500 genes in the human genome; scientists originally estimated more than 50,000 genes. Human genes are more efficient than the genes in other species, thereby increasing the human genetic complexity. DIF: Cognitive Level: Remember REF: IMS: 42 TOP: Nursing Process: Assessment MSC: Client Needs: Health Promotion and Maintenance 10. Which condition or treatment reduces the risk of morbidity in women with the inherited factor V Leiden disorder? a. Anticoagulant therapy b. Pregnancy c. Oral contraceptives d. Hormone replacement therapy Factor V Leiden is the most common inherited risk factor for primary or recurrent venous thromboembolism. It is an autosomal recessive disorder that increases an individuals risk for blood clots in the legs and pulmonary emboli. This risk significantly increases if the woman is pregnant or is taking oral contraceptives or hormone replacement therapy. Prophylactic anticoagulation therapy decreases the risk of comorbidities. DIF: Cognitive Level: Understand REF: IMS: 51 TOP: Nursing Process: Planning MSC: Client Needs: Physiologic Integrity - - - - - - - - - - - - - - - - - - - - - - - 17. Which statement regarding chromosomal abnormalities is most accurate? a. Chromosomal abnormalities occur in approximately 10% of newborns. b. Abnormalities of number are the leading cause of pregnancy loss. c. Down syndrome is a result of an abnormal chromosomal structure. d. Unbalanced translocation results in a mild abnormality that the child will outgrow. Aneuploidy is an abnormality of number that is also the leading genetic cause of mental retardation. Chromosomal abnormalities occur in fewer than 1% of newborns. Down syndrome is the most common form of a trisomal abnormality, an abnormality of chromosome number (47 chromosomes). Unbalanced translocation is an abnormality of chromosomal structure that often has serious clinical effects. DIF: Cognitive Level: Understand REF: IMS: 46 TOP: Nursing Process: Diagnosis MSC: Client Needs: Psychosocial Integrity 18. Which type of genetic tests in clinical practice are most often offered to clients with a family history of disease? a. Single-gene disorders b. Carrier screening c. Predictive value testing d. Predispositional testing Most tests now offered are tests for single-gene disorders in clients with clinical symptoms or clients who have a family history of a genetic disease. Carrier screening is used to identify individuals who have a gene mutation for a genetic condition but do not display symptoms. Predictive value testing is used only to clarify the genetic status of asymptomatic family members. Predispositional testing differs from the other types of genetic screening in that a positive result does not indicate a 100% chance of developing the condition. DIF: Cognitive Level: Understand REF: IMS: 43 TOP: Nursing Process: Planning MSC: Client Needs: Health Promotion and Maintenance [Show More]

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