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Chapter 9Genetics and the Multiple Determinants of Health
1. A client is found to be heterozygous for a normal gene and an abnormal gene. The nurse realizes this client would be considered a(n):
1. affected individual.
3. genetically defective.
4. mutated individual.
A carrier is unaware of the presence of a mutated gene. An affected individual exhibits the disease or condition. The client is not genetically defective nor mutated.
PTS: 1 DIF: Analyze REF: Fundamentals of Genetics
2. A client is diagnosed with a chromosomal abnormality that occurred during cell division and resulted in the formation of two cells, each with the same chromosome complement as the parent cell. The nurse realizes that the abnormality occurred during:
Mitosis is the cell division resulting in two cells each with the same chromosome complement of the parent cell. Meiosis is the division of cells to produce four gametes containing the haploid number of chromosomes. Cell division occurs after conception. Cell division occurs during the formation of the embryo and fetus and is complete upon birth.
PTS: 1 DIF: Analyze REF: Chromosomal Abnormalities
3. From genetic testing, a client is found to have the correct number of chromosomes within cells. The nurse would document this finding as being:
Euploidy refers to the correct number of chromosomes in a cell. Diploid refers to two complete sets of chromosomes. Haploid refers to having one complete set of chromosomes. Aneuploidy refers to a condition in which the numerical deviation is not an exact multiple of the haploid number and is the most common chromosomal abnormality to affect humans.
PTS: 1 DIF: Apply REF: Abnormalities of Chromosome Number
4. From genetic testing, a fetus is determined to have genetic trisomy. The nurse realizes that the most common trisomy condition is:
1. Down syndrome.
2. Edward syndrome.
3. Marfan syndrome.
4. Patau syndrome.
Down syndrome is caused by an additional chromosome 21. It occurs is approximately 1 in 660 births. Edward syndrome (trisomy 18) occurs in 1 in 3000 births. Patau syndrome (trisomy 13) occurs in 1 in 5000 births. Marfan syndrome occurs from an autosomal dominant trait disorder.
PTS: 1 DIF: Analyze REF: Trisomies
5. A pregnant client is scheduled for a procedure to harvest stem cells from the fetuss umbilical cord. Which of the following must occur before this procedure can be conducted?
1. Fetoscopy fails.
2. Umbilical cord is visualized upon ultrasound.
3. Chorionic villus sampling test has been completed.
4. Placental biopsy is completed.
Percutaneous umbilical blood sampling can be done as early as 16 to 18 weeks gestation if the cord can be visualized by ultrasound. This test does not need to be done if the fetoscopy fails. This test does not need to be done after chorionic villus sampling or placental biopsy.
PTS: 1 DIF: Analyze
REF: Prenatal Procedures: Percutaneous Umbilical Blood Sampling
6. The nurse is concerned that a pregnant client may deliver an infant with a teratogenic condition when which of the following is assessed?
1. Client ingests two alcoholic drinks every night during pregnancy.
2. Client exercises 3 days each week for 30 minutes.
3. Client works 40 hours a week.
4. Client eats six servings of fruits and vegetables each day.
The most commonly used teratogenic agent is alcohol. The ingestion of alcohol while pregnant can cause the teratogenic condition fetal alcohol syndrome. The other choices are positive activities for the client to participate in while pregnant and are not teratogenic to the fetus.
PTS: 1 DIF: Analyze
REF: Congenital Anomalies and Chromosomal Syndromes
7. An adolescent female client being treated for cystic fibrosis is asking the nurse about birth control. Which of the following should the nurse include in these instructions?
1. The chances that the client will become pregnant are small.
2. Women with cystic fibrosis can transmit this disorder to their children.
3. Pregnancy will cause the disease to go into remission.
4. The client has a good chance of having children without the disorder.
Infertility is not seen in women who are diagnosed with cystic fibrosis; therefore, a female with cystic fibrosis can transmit the disorder to her children. Infertility is common in adult men with cystic fibrosis. Pregnancy will not cause the disease to go into remission.
PTS: 1 DIF: Apply REF: Cystic Fibrosis
8. After genetic testing, a client is found to have the apolipoprotein E genotype. The nurse realizes that this genotype predisposes the client to developing:
1. diabetes mellitus.
3. cystic fibrosis.
4. cardiovascular disease.
The apolipoprotein E genotype has an effect on a persons cholesterol level which can lead to the development of cardiovascular disease. The apolipoprotein E genotype is not a factor with the development of diabetes mellitus, arthritis, or cystic fibrosis.
PTS: 1 DIF: Analyze REF: Cardiovascular Disease
9. A client with a family history of cancer asks the nurse what he can do to prevent developing the disease. Which of the following should the nurse respond to this client?
1. Everyone develops cancer sometime in his life.
2. There are lifestyle changes that you can make to avert the development of cancer.
3. If you have cancer in your family, you will also develop the disease.
4. Cancer cannot be prevented.
Individuals with a family history of cancer should review their family histories to identify cancer patterns and learn about lifestyle changes that could be made early to avert the onset of cancer. The other choices are incorrect and inappropriate for the nurse to respond to the client.
PTS: 1 DIF: Apply REF: Cancer
10. The nurse caring for a client diagnosed with sickle-cell anemia realizes that which of the following interventions has been shown to increase clients life expectancy?
1. Low-fat diet
2. Moderate exercise
3. Prophylactic antibiotic therapy
4. Vitamin D therapy
Treatment of sickle-cell disease with prophylactic antibiotic therapy has resulted in an increase in life expectancy. Other treatments include fluid therapy, oxygen, pain management, blood transfusions, and medications. Low-fat diet, moderate exercise, and vitamin D therapy are not interventions associated with the treatment of sickle-cell anemia.
PTS: 1 DIF: Analyze REF: Hemoglobinopathies
11. A client is diagnosed with a genetic disorder that could affect other members of her family. The conflict that could occur if this information is shared with the clients family would be within the ethical principle of:
The law protects the autonomy of competent individuals in making health care decisions regarding genetic testing and the lifestyle changes resulting from such tests. There may be a conflict between the rights of the individual and the rights of the family for whom this information may have relevance to health. The other choices do not apply to a conflict situation with a client and the family.
PTS: 1 DIF: Analyze REF: Autonomy
12. A client is receiving a vaccination against a known disease. The nurse realizes that the vaccine was created through the use of:
1. gene therapy.
3. genetic engineering.
Genetic engineering has been used to develop synthetic insulins, drugs, and vaccines. Gene therapy is the use of genes to treat disease. Pharmacogenomics is the study of how a persons genetic traits affect the bodys response to drugs. Oncogenomics is the use of chemotherapy and vaccines to treat and prevent cancer.
PTS: 1 DIF: Analyze REF: Genetic Engineering
13. The nurse is assessing a clients hereditary and nonhereditary cancer risk factors in order to create a pictorial description of the incidence of cancer. The nurse is constructing a:
1. flow chart.
A pedigree is a diagrammatic representation of a family history that identifies affected individuals. The nurse is not constructing a flow chart, checklist, or database with the clients assessment information.
PTS: 1 DIF: Apply REF: Expanded Roles for Nurses
1. The nurse is caring for a client who is experiencing a disease process caused by a malformation from a normal pattern of development. When reviewing the principles of teratology to plan care for this client, the nurse reviews which basic principles? (Select all that apply.)
1. Drug development
2. Environmental influences
3. Gestational age when the exposure occurred
4. The agent
5. The route of exposure
6. Rate of placental transfer
ANS: 2, 3, 4, 5, 6
Basic principles of teratology include environmental influences, gestational age when the exposure occurred, the agent, the route of exposure, and the rate of placental transfer. Drug development is not a principle of teratology.
PTS: 1 DIF: Analyze REF: Principles of Teratology
2. A pregnant client is scheduled for diagnostic tests which cannot occur until the fetus is older than 18 weeks. Which of the following tests is this client most likely scheduled to have performed? (Select all that apply.)
2. Chorionic villus sampling
3. Fetoscopy with fetal skin biopsy
4. Periumbilical blood
5. Placental biopsy
6. Early amniocentesis
ANS: 3, 4
Periumbilical blood and fetoscopy with fetal skin biopsy both require gestation longer than 18 weeks. Placental biopsy requires gestation longer than 12 weeks. Early amniocentesis requires that gestation be before 15 weeks. Amniocentesis requires that gestation be at 15 to 20 weeks, and chorionic villus sampling requires gestation at 10 to 12 weeks.
PTS: 1 DIF: Analyze REF: Table 9-2 Prenatal Diagnosis Procedures
3. A client is diagnosed with an autosomal recessive inherited disease. Which of the following are examples of this type of inherited disease? (Select all that apply.)
1. Cystic fibrosis
2. D-resistant rickets
3. Sickle-cell disease
4. Tay-Sachs disease
ANS: 1, 3, 4, 5, 6
D-resistant rickets is an X-linked dominant disorder. The other choices are autosomal recessive inherited diseases.
PTS: 1 DIF: Understand REF: Autosomal Recessive Inheritance
4. A client at 20 weeks gestation is scheduled for an ultrasound to diagnose fetal abnormalities. The nurse realizes that this diagnostic test is used to identify which of the following fetal anomalies? (Select all that apply.)
1. Diabetes mellitus
2. Spina bifida
3. Congestive heart failure
ANS: 2, 4, 6
Ultrasound scanning is used to identify the fetal conditions of spina bifida, hydrocephaly, and microcephaly. Ultrasound scanning is not used to identify fetal diabetes mellitus, congestive heart failure, or gastritis.
PTS: 1 DIF: Analyze REF: Diagnostic Imaging
5. The ethics committee is meeting to discuss treatment options for a client diagnosed with a genetic disorder. When addressing the ethics of this clients treatment, the committee will focus on which of the following ethical principles? (Select all that apply.)
ANS: 1, 3, 5, 6
The four principles that support the ethical decision-making process regarding the treatment of a genetic disorder are: 1) autonomy, 2) beneficence, 3) nonmaleficence, and 4) justice. Timeliness and cost-effectiveness are not ethical principles.
PTS: 1 DIF: Apply
REF: Table 9-3 Four Principles Support the Ethical Decision-Making Process
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