Old's Maternal-Newborn Nursing and Women's Health, 11e (Davidson/London/Ladewig)

Chapter 10 Reproductive Genetics

1. The nurse is reviewing preconception questionnaires in charts. Which couple are the most likely candidates for preconceptual genetic counseling?
2. Wife is 30 years old, husband is 31 years old
3. Wife and husband are both 29 years old, first baby for husband, wife has a normal 4-year-old
4. Wife's family has a history of hemophilia
5. Single 32-year-old woman is using donor sperm

Page Ref: 201

Cognitive Level: Applying

Client Need/Sub: Health Promotion and Maintenance: Health Promotion/Disease Prevention

Standards: Q S E N Competencies: Ⅰ. B. 3. Provide patient-centered care with sensitivity and respect for the diversity of human experience. | A A C N Essentials Competencies: Ⅸ. 14. Demonstrate clinical judgment and accountability for patient outcomes when delegating to and supervising other members of the healthcare team. | N L N Competencies: Teamwork: Function competently within one's own scope of practice as leader or member of the healthcare team and manage delegation effectively. | Nursing/Integrated Concepts: Nursing Process: Planning.

Learning Outcome: 3 Identify couples who may benefit from preconceptual genetic counseling and testing, including those with special reproductive concerns.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. A couple is at the clinic for preconceptual counseling. Both parents are 40 years old. The nurse knows that the education session has been successful when the wife makes which statement(s)?

Note: Credit will be given only if all correct choices and no incorrect choices are selected.

Select all that apply.

1. "We are at low risk for having a baby with Down syndrome."
2. "Our children are more likely to have genetic defects."
3. "Children born to parents our age have sex-linked disorders."
4. "The tests for genetic defects can be done early in pregnancy."
5. "It will be almost impossible for us to conceive a child."

Page Ref: 201

Cognitive Level: Applying

Client Need/Sub: Health Promotion and Maintenance: Health Promotion/Disease Prevention

Standards: Q S E N Competencies: Ⅰ. B. 10. Engage patients or designated surrogates in active partnerships that promote health, safety and well-being, and self-care management. | A A C N Essentials Competencies: Ⅸ. 7. Provide appropriate patient teaching that reflects developmental stage, age, culture, spirituality, patient preferences, and health literacy considerations to foster patient engagement in their care. | N L N Competencies: Relationship-Centered Care: Communicate information effectively; listen openly and cooperatively. | Nursing/Integrated Concepts: Nursing Process: Evaluation.

Learning Outcome: 3 Identify couples who may benefit from preconceptual genetic counseling and testing, including those with special reproductive concerns.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. A newborn has been diagnosed with a disorder that occurs through an autosomal recessive inheritance pattern. The parents ask the nurse, "Which of us passed on the gene that caused the disorder?" What should the nurse tell them?
2. The female
3. The male
4. Neither
5. Both

Page Ref: 196—197

Cognitive Level: Understanding

Client Need/Sub: Health Promotion and Maintenance: Health Promotion/Disease Prevention

Standards: Q S E N Competencies: Ⅰ. A. 1. Integrate understanding of multiple dimensions of patient-centered care. | A A C N Essentials Competencies: Ⅰ. 1. Integrate theories and concepts from liberal education into nursing practice. | N L N Competencies: Knowledge and Science: Relationships between knowledge/science and (a) quality and safe patient care; (b) excellence in nursing, and (c) advancement of the profession. | Nursing/Integrated Concepts: Nursing Process: Implementation.

Learning Outcome: 1 Identify the characteristics of autosomal dominant, autosomal recessive, X-linked (sex-linked) recessive, and multifactorial inheritance disorders.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. Couples at risk for having a detectable single gene or chromosomal anomaly may wish to undergo which procedure?
2. Preimplantation genetic screening (P G S)
3. Preimplantation genetic diagnosis (P G D)
4. Intracytoplasmic sperm injection (I C S I)
5. Gamete intrafallopian transfer (G I F T)

Page Ref: 202

Cognitive Level: Understanding

Client Need/Sub: Health Promotion and Maintenance: Health Screening

Standards: Q S E N Competencies: Ⅰ. A. 1. Integrate understanding of multiple dimensions of patient-centered care. | A A C N Essentials Competencies: Ⅰ. 3. Use skills of inquiry, analysis, and information literacy to address practice issues. | N L N Competencies: Knowledge and science: Relationships between knowledge/science and (a) quality and safe patient care, (b) excellence in nursing, and (c) advancement of the profession. | Nursing/Integrated Concepts: Nursing Process: Diagnosis.

Learning Outcome: 3 Identify couples who may benefit from preconceptual genetic counseling and testing, including those with special reproductive concerns.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. The couple at 12 weeks' gestation has been told that their fetus has sickle cell disease. Which statement by the couple indicates that they are adequately coping?
2. "We knew we were both carriers of sickle cell disease. We shouldn't have tried to have a baby."
3. "If we had been healthier when we conceived, our baby wouldn't have this disease now."
4. "Taking vitamins before we got pregnant would have prevented this from happening."
5. "The doctor told us there was a 25% chance that our baby would have sickle cell disease."

Page Ref: 196—197

Cognitive Level: Applying

Client Need/Sub: Health Promotion and Maintenance: Health Promotion/Disease Prevention

Standards: Q S E N Competencies: Ⅰ. B. 9. Assess level of patient's decisional conflict and provide access to resources. | A A C N Essentials Competencies: Ⅸ. Engage in caring and healing techniques that promote a therapeutic nurse-patient relationship. | N L N Competencies: Relationship-Centered Care: Appreciate the patient as a whole person, with his or her own life story and ideas about the meaning of health or illness. | Nursing/Integrated Concepts: Nursing Process: Assessment.

Learning Outcome: 1 Identify the characteristics of autosomal dominant, autosomal recessive, X-linked (sex-linked) recessive, and multifactorial inheritance disorders.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. A pregnant client asks the nurse, "What is this "knuckle test" that is supposed to tell whether my baby has a genetic problem?" What does the nurse correctly explain?
2. "In the first trimester, the nuchal translucency measurement is used to improve the detection rate for Down syndrome and trisomy 18."
3. "You will need to ask the physician for an explanation."
4. "It tests for hemophilia A or B."
5. "It tests for Duchenne muscular dystrophy."

Page Ref: 198

Cognitive Level: Applying

Client Need/Sub: Health Promotion and Maintenance: Health Screening

Standards: Q S E N Competencies: Ⅰ. A. 1. Integrate understanding of multiple dimensions of patient-centered care. | A A C N Essentials Competencies: Ⅰ. 3. Use skills of inquiry, analysis, and information literacy to address practice issues. | N L N Competencies: Knowledge and Science: Relationships between knowledge/science and (a) quality and safe patient care, (b) excellence in nursing, and, (c) advancement of the profession. | Nursing/Integrated Concepts: Nursing Process: Implementation.

Learning Outcome: 2 Compare prenatal and postnatal diagnostic procedures used to determine the presence of genetic disorders.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. A nurse counsels a couple on sex-linked disorders. Both the man and the woman are carriers of the disorder. They ask the nurse how this disorder will affect any children they might have. What is the nurse's best response?
2. "If you have a daughter, she will not be affected."
3. "Your son will be affected because the father has the disorder."
4. "There is a 25% chance that your son will have the disorder because the mother has the disorder."
5. "There is a 50% chance that your son will be a carrier only."

Page Ref: 197

Cognitive Level: Understanding

Client Need/Sub: Health Promotion and Maintenance: Health Promotion/Disease Prevention

Standards: Q S E N Competencies: Ⅰ. B. 10. Engage patients or designated surrogates in active partnerships that promote health, safety and well-being, and self-care management. | A A C N Essentials Competencies: Ⅸ. 7. Provide appropriate patient teaching that reflects developmental stage, age, culture, spirituality, patient preferences, and health literacy considerations to foster patient engagement in their care. | N L N Competencies: Relationship-Centered Care: Communicate information effectively; listen openly and cooperatively. | Nursing/Integrated Concepts: Nursing Process: Implementation.

Learning Outcome: 1 Identify the characteristics of autosomal dominant, autosomal recessive, X-linked (sex-linked) recessive, and multifactorial inheritance disorders.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. A 58-year-old father and a 45-year-old mother gave birth to a baby boy 2 days ago. The nurse assesses a single palmar crease and low-set ears on the newborn. The nurse plans to counsel the couple about which chromosomal abnormality?
2. Trisomy 13
3. Trisomy 18
4. Trisomy 21
5. Trisomy 26

Page Ref: 192

Cognitive Level: Understanding

Client Need/Sub: Psychosocial Integrity: Grief and Loss

Standards: Q S E N Competencies: Ⅰ. B. 10. Engage patients or designates surrogates in active partnerships that promote health, safety and well-being, and self-care management. | A A C N Essentials Competencies: Ⅸ. 7. Provide appropriate patient teaching that reflects developmental stage, age, culture, spirituality, patient preferences and health literacy considerations to foster patient engagement in their care. | N L N Competencies: Relationship-Centered Care: Communicate information effectively; listen openly and cooperatively. | Nursing/Integrated Concepts: Nursing Process: Planning.

Learning Outcome: 2 Compare prenatal and postnatal diagnostic procedures used to determine the presence of genetic disorders.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. Which couples may benefit from prenatal diagnosis?

Note: Credit will be given only if all correct choices and no incorrect choices are selected.

Select all that apply.

1. Couples including women under the age of 35
2. Couples with an unbalanced translocation
3. Couples with a family history of a known or suspected single-gene disorder
4. Couples including women with a teratogenic risk secondary to an exposure or maternal health condition
5. Family history of birth defects and/or intellectual disability

Page Ref: 198—199

Cognitive Level: Applying

Client Need/Sub: Health Promotion and Maintenance: Health Promotion/Disease Prevention

Standards: Q S E N Competencies: Ⅰ. B. 1. Elicit patient values, preferences, and expressed needs as part of clinical interview, implementation of care plan, and evaluation of care. | A A C N Essentials Competencies: Ⅸ. 5. Deliver compassionate, patient-centered, evidence-based care that respects patient and family preferences. | N L N Competencies: Relationship-Centered Care: Promote and accept the patient's emotions; accept and respond to distress in patient and self; facilitate hope, trust, and faith. | Nursing/Integrated Concepts: Nursing Process: Evaluation.

Learning Outcome: 2 Compare prenatal and postnatal diagnostic procedures used to determine the presence of genetic disorders.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. A family has the following inherited disorder. What information should the nurse review with this family?
2. There are various degrees of presentation
3. The disorder will become milder in subsequent generations
4. This is seen in consanguineous mating
5. There is no male-to-male transmission

Page Ref: 196

Cognitive Level: Applying

Client Need/Sub: Health Promotion and Maintenance

Standards: Q S E N Competencies: Ⅰ. A. 1. Integrate understanding of multiple dimensions of patient-centered care. | A A C N Essentials Competencies: Ⅸ. 7. Provide appropriate patient teaching that reflects developmental stage, age, culture, spirituality, patient preferences, and health literacy considerations to foster patient engagement in their care. | N L N Competencies: Context and Environment: Practice; conduct population-based transcultural health assessments and interventions. | Nursing/Integrated Concepts: Implementation: Teaching/Learning.

Learning Outcome: 1 Identify the characteristics of autosomal dominant, autosomal recessive, X-linked (sex-linked) recessive, and multifactorial inheritance disorders.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. A married couple of Ashkenazi Jewish descent is pregnant with their first child. For which genetic health problems should the nurse provide teaching in anticipation of further testing?

Note: Credit will be given only if all correct choices and no incorrect choices are selected.

Select all that apply.

1. Cystic fibrosis
2. Beta-thalassemia
3. Canavan disease
4. Tay-Sachs disease
5. Familial dysautonomia

Page Ref: 203

Cognitive Level: Applying

Client Need/Sub: Physiological Integrity: Reduction of Risk Potential

Standards: Q S E N Competencies: Ⅰ. A. 1. Integrate understanding of multiple dimensions of patient-centered care. | A A C N Essentials Competencies: Ⅸ. 7. Provide appropriate patient teaching that reflects developmental stage, age, culture, spirituality, patient preferences, and health literacy considerations to foster patient engagement in their care. | N L N Competencies: Context and Environment: Practice; conduct population-based transcultural health assessments and interventions. | Nursing/Integrated Concepts: Implementation: Teaching/Learning.

Learning Outcome: 3 Identify couples who may benefit from preconceptual genetic counseling and testing, including those with special reproductive concerns.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.

1. The nurse is providing care to several pregnant clients at an O B-G Y N clinic. Which client might benefit from prenatal diagnostic testing?
2. Paternal age of 35 years
3. Maternal age of 30 years
4. Family history of anxiety
5. Family history of cystic fibrosis

Page Ref: 202

Cognitive Level: Analyzing

Client Need/Sub: Physiological Integrity: Reduction of Risk Potential

Standards: Q S E N Competencies: Ⅰ. B. 3. Provide patient-centered care with sensitivity and respect for the diversity of human experience. | A A C N Essentials Competencies: Ⅸ. 3. Implement holistic, patient-centered care that reflects an understanding of human growth and development, pathophysiology, pharmacology, medical management and nursing management across the health-illness continuum, across the lifespan, and in all healthcare settings. | N L N Competencies: Knowledge and Science: Knowledge: Integration of knowledge from nursing and other disciplines. | Nursing/Integrated Concepts: Nursing Process: Assessment.

Learning Outcome: 3 Identify couples who may benefit from preconceptual genetic counseling and testing, including those with special reproductive concerns.

M N L L O: Demonstrate understanding of reproductive genetics, screening, and management for women at risk for genetic disorders.