Chapter 3 Genetic and Genomic Influences in Maternal, Newborn, and Child Health

Transcription

1 Chapter 3 Genetic and Genomic Influences in Maternal, Newborn, and Child Health 1) The nurse is reviewing the process of mitosis with a group of young adults attending a family planning seminar. What should the nurse include when explaining the role of mitosis? Select all that apply. 1. Replaces lost skin cells 2. Ensures rapid cell growth in early life 3. Results in the formation of sperm and ova 4. Maintains cells for respiratory functioning 5. Ensures continuity of cells in the gastrointestinal tract Answer: 1, 2, 4, 5 1. Mitosis replaces cells lost daily from skin surfaces. 2. Mitosis is responsible for rapid human growth in early life. 3. Meiosis occurs only in the reproductive cells of the testes and ovaries and results in the formation of sperm and ova. 4. Mitosis is responsible for replacing cells lost daily from the lining of the respiratory tract. 5. Mitosis replaces cells lost daily from the lining of the gastrointestinal tract. Page Ref: 34 centered care: information, communication, and education AACN Essential Competencies: IX.7. Provide appropriate client teaching that reflects developmental stage, age, culture, spirituality, client preferences, and health literacy considerations to foster client engagement in their care NLN Competencies: Context and Environment; Practice; apply health Nursing Process: Implementation/Teaching/Learning Learning Outcome: 3.1 Understand foundational concepts of genetics and genomics, including how DNA influences health and illness. MNL Learning Outcome: Describe the function and structure of chromosomes and genes. 2) After genetic testing, a client is suspected of having mitochondrial gene alteration. When reviewing the test result with the client, which body systems are noted as being affected by this alteration? Select all that apply. 1. Brain 2. Renal 3. Cardiac 4. Genitourinary 5. Musculoskeletal Answer: 1, 3, 5 1. Clinical manifestations occurring as a result of mitochondrial gene alterations primarily affect high-energy tissues such as the brain.

2 2. Clinical manifestations occurring as a result of mitochondrial gene alterations primarily affect high-energy tissues. The renal system is not identified as being affected. 3. Clinical manifestations occurring as a result of mitochondrial gene alterations primarily affect high-energy tissues such as cardiac muscle. 4. Clinical manifestations occurring as a result of mitochondrial gene alterations primarily affect high-energy tissues. The genitourinary system is not identified as being affected. 5. Clinical manifestations occurring as a result of mitochondrial gene alterations primarily affect high-energy tissues such as skeletal muscle. Page Ref: 36 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Implementation/Teaching/Learning Learning Outcome: 3.1 Understand foundational concepts of genetics and genomics, including how DNA influences health and illness. MNL Learning Outcome: Describe the function and structure of chromosomes and genes. 3) Through genetic testing a client is found to have a germline mutation of a specific gene. What information about this finding should be reviewed with the client? 1. No children will have the mutation. 2. All future children will have the mutation. 3. Only male children will have the mutation. 4. Only female children will have the mutation. Answer: 2 1. Somatic mutations are not passed from one generation to another. 2. Hereditary mutations are passed to offspring from one or both parents and are also known as germline mutations because the mutation exists in the reproductive cells or gametes. The DNA in every cell of that offspring will have the mutation, which can then be transmitted to following generations. 3. This mutation exists in the reproductive cells and will affect both genders. 4. This mutation exists in the reproductive cells and will affect both genders. Page Ref: 37 centered care: information, communication, and education AACN Essential Competencies:

3 Nursing Process: Implementation/Teaching/Learning Learning Outcome: 3.2 Explain mechanisms by which alterations in DNA cause disease. MNL Learning Outcome: Describe the function and structure of chromosomes and genes. 4) A client learns that Huntington disease has occurred in some family members. Which type of genetic anomaly should the nurse explain as causing this disorder? 1. Somatic mutation 2. Germline mutation 3. Single gene mutation 4. Trinucleotide repeat expansion Answer: 4 1. Somatic mutations are DNA alterations that occur in an individual at any time throughout a lifetime after fertilization. They result from errors during cell division (mitosis) or from environmental influences such as radiation, toxins, or viral infections and are not passed from one generation to another. 2. Germline mutations exist in the reproductive cells, causing the DNA in every cell of any offspring to have the mutation, which can then be transmitted to following generations. 3. Single gene mutations are known to cause diseases such as cystic fibrosis. 4. Trinucleotide repeat expansion occurs at sites within a gene where the DNA sequence consists of adjacent three-nucleotide repeats. These repeat sequences tend to expand during meiosis, a feature known as anticipation, resulting in a larger number of repeats in subsequent generations. A larger number of repeats may be associated with disease; typically, the larger the number of repeats, the more severe the condition. Huntington disease is caused by this type of genetic anomaly. Page Ref: 37 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Implementation/Teaching/Learning Learning Outcome: 3.2 Explain mechanisms by which alterations in DNA cause disease. MNL Learning Outcome: Describe the function and structure of chromosomes and genes. 5) A pregnant client is scheduled for fetal genetic testing to determine the presence of multifactorial disorders. Which health problems can occur in the fetus from this type of genetic anomaly? Select all that apply. 1. Autism 2. Asthma

4 3. Cleft lip 4. Scoliosis 5. Cleft palate Answer: 1, 2, 3, 5 1. The term multifactorial implies genetic effect of the environment on genetic expression. Most diseases and health conditions are polygenic, and the expression of those altered genes is often modified by environmental influences. Such conditions are said to be multifactorial and include the pediatric condition autism. 2. The term multifactorial implies genetic effect of the environment on genetic expression. Most diseases and health conditions are polygenic, and the expression of those altered genes is often modified by environmental influences. Such conditions are said to be multifactorial and include the pediatric condition asthma. 3. The term multifactorial implies genetic effect of the environment on genetic expression. Most diseases and health conditions are polygenic, and the expression of those altered genes is often modified by environmental influences. Such conditions are said to be multifactorial and include cleft lip. 4. Scoliosis is not identified as being a multifactorial genetic disorder. 5. The term multifactorial implies genetic effect of the environment on genetic expression. Most diseases and health conditions are polygenic, and the expression of those altered genes is often modified by environmental influences. Such conditions are said to be multifactorial and include cleft palate. Page Ref: 37 Cognitive Level: Understanding Nursing/Integrated Concepts: Nursing Process: Assessment Learning Outcome: 3.3 Distinguish between single-gene (Mendelian) and multifactorial diseases and health conditions MNL Learning Outcome: Describe the function and structure of chromosomes and genes. 6) The nurse notes that a client is admitted for treatment of a disease caused by a singlenucleotide genetic disorder. For which health problem should the nurse plan care for this client? 1. Cancer 2. Heart disease 3. Sickle cell anemia 4. Huntington disease Answer: 3 1. Cancer can be caused by either a somatic mutation or a multifactorial disorder. 2. Heart disease is considered a multifactorial disorder.

5 3. Alterations as small as a single-nucleotide change are known to cause disease. Sickle cell disease is such a disorder. 4. Huntington disease is caused by trinucleotide repeat expansion disorder. Page Ref: 37 Nursing/Integrated Concepts: Nursing Process: Planning Learning Outcome: 3.3 Distinguish between single-gene (Mendelian) and multifactorial diseases and health conditions. MNL Learning Outcome: Describe the function and structure of chromosomes and genes. 7) Through genetic testing a homosexual male learns of having two copies of a gene deleted in gene CCR5. What should the nurse prepare to discuss with this client? Select all that apply. 1. Safe sexual practices 2. Reduced risk of contracting HIV 3. Increased risk of contracting HIV 4. Expectation to develop AIDs quickly 5. Delayed conversion of HIV to AIDS Answer: 1, 2 1. Even though persons who have two copies of the altered CCR5 gene are almost completely resistant to infection with HIV type 1, the client should still be reminded of safe sexual practices. 2. Persons who have two copies of the altered CCR5 gene are almost completely resistant to infection with HIV type The client does not have an increased risk for contracting HIV. 4. Two copies of the altered CCR5 gene will not accelerate the development of AIDS from HIV. 5. Clients who have one copy of the altered CCR5 gene will have delayed conversion of HIV to AIDS. Page Ref: 37 Nursing/Integrated Concepts: Nursing Process: Implementation/Teaching/Learning Learning Outcome: 3.3 Distinguish between single-gene (Mendelian) and multifactorial diseases and health conditions.

6 MNL Learning Outcome: Describe the function and structure of chromosomes and genes. 8) The nurse notes that a client has the following genetic pedigree: What would be important for the nurse to discuss with the client about this pedigree? Select all that apply. 1. The condition may skip a generation. 2. Both males and females are affected. 3. There is no male-to-male inheritance. 4. More males will be affected than females. 5. An affected male will have all carrier daughters. Answer: 3, 4, 5 1. Skipping a generation is a characteristic of an autosomal recessive inheritance pattern. 2. Males and females being equally affected is a characteristic of an autosomal recessive inheritance pattern. 3. This is a diagram of X-linked inheritance. There is no male-to-male inheritance with this pattern. 4. This is a diagram of X-linked inheritance. More males will be affected than females with this pattern. 5. This is a diagram of X-linked inheritance. An affected male will have all carrier daughters with this pattern. Page Ref: 40 Nursing/Integrated Concepts: Nursing Process: Implementation/Teaching/Learning

7 Learning Outcome: 3.4 Identify characteristics of common inheritance patterns of single-gene conditions. MNL Learning Outcome: Contrast the various genetic inheritance patterns. 9) From genetic testing a client learns of having a Y-linked genetic disorder. Which health problem would be explained by this finding? 1. Infertility 2. Hemophilia A 3. Beta-thalassemia 4. Tay-Sachs disease Answer: 1 1. Because the Y chromosome has very few genes, alterations on the Y chromosome are not often associated with health problems. The Y chromosome does contain genes associated with spermatogenesis, and alterations in those genes can cause male infertility. 2. Hemophilia A is an X-linked recessive disorder. 3. Beta-thalassemia is an autosomal recessive disorder. 4. Tay-Sachs disease is an autosomal recessive disorder. Page Ref: 41 Cognitive Level: Analyzing Nursing/Integrated Concepts: Nursing Process: Assessment Learning Outcome: 3.4 Identify characteristics of common inheritance patterns of single-gene conditions. MNL Learning Outcome: Contrast the various genetic inheritance patterns. 10) Two family members are diagnosed with the same genetic disorder but have distinctly different manifestations. What should the nurse consider as being the reason for this occurrence? 1. Imprinting 2. Penetrance 3. New mutation 4. Variable expression Answer: 1 1. The expression of a few genetic conditions varies depending on whether the altered gene is inherited from the mother or the father. This differential gene expression is due to genomic imprinting. Imprinting takes place before gametes are formed, when certain genes are chemically marked as having maternal or paternal origin. After conception, the imprint controls gene expression so that only one allele, either maternal or paternal, is expressed. If the unsilenced (active) allele carries a mutation, disease may result and the diseases may be different.

8 2. Penetrance is the probability that a gene will be expressed phenotypically. 3. A new mutation is when there is no previous family history of a condition. 4. The term expressivity is used to describe the degree to which a phenotype is expressed. When people with the same genetic makeup (genotype) exhibit signs or symptoms with varying degrees of severity, the phenotype is described as showing variable expression. Page Ref: 41 Cognitive Level: Analyzing Nursing/Integrated Concepts: Nursing Process: Assessment Learning Outcome: 3.4 Identify characteristics of common inheritance patterns of single-gene conditions. MNL Learning Outcome: Contrast the various genetic inheritance patterns. 11) The nurse suspects that a pregnant client will be scheduled for chorionic villi sampling (CVS). What assessment data did the nurse use to make this clinical determination? Select all that apply. 1. Client age 39 years 2. Client carrying twins 3. Fetus at 10 weeks gestation 4. Client has an X-linked disorder 5. Client has a history of smoking Answer: 1, 3, 4 1. Invasive diagnostic testing is frequently targeted to women who are over the age of Number of fetuses is not an indication for invasive diagnostic testing. 3. Chorionic villi sampling can be performed after 9 weeks gestation. 4. Invasive diagnostic testing is frequently targeted to women who have an X-linked disorder. 5. Smoking history is not an indication for invasive diagnostic testing. Page Ref: 44 Cognitive Level: Analyzing Nursing/Integrated Concepts: Nursing Process: Assessment

9 Learning Outcome: 3.5 Describe the uses, implications, and limitations of various prenatal and postnatal types of genetic tests that are offered to childbearing families and children, distinguishing between screening and diagnostic tests. 12). A genetic screening test completed on a newborn is found to be positive. What should the nurse anticipate the next action will be for this infant? 1. Scheduling for diagnostic testing 2. Discussing the need for major intervention 3. Nothing, since further action is not necessary 4. Instructing the parents on expression of the genetic disorder Answer: 1 1. Each positive screening test must be followed by a diagnostic test. 2. Major intervention cannot be identified until a diagnosis is made. 3. Even if a false-positive occurs, the newborn will need diagnostic testing. 4. Until a diagnosis is made, teaching about genetic expression of the disorder cannot be completed. Page Ref: 43 Nursing/Integrated Concepts: Nursing Process: Planning Learning Outcome: 3.5 Describe the uses, implications, and limitations of various prenatal and postnatal types of genetic tests that are offered to childbearing families and children, distinguishing between screening and diagnostic tests. 13) Healthcare providers strongly suggest that a client undergo genetic testing before becoming pregnant. What should the nurse do to ensure this client s informed consent and confidentiality? Select all that apply. 1. Explain potential societal impact. 2. Discuss risks and benefits of the test. 3. Explain that all genetic testing is voluntary. 4. Review potential physical or psychologic harm. 5. Expect that results are to be shared with family. Answer: 1, 2, 3, 4

10 1. It is the nurse s responsibility to ensure that the consent process includes discussion of the potential societal injury due to stigmatization or discrimination. 2. It is the nurse s responsibility to ensure that the consent process includes discussion of the risks and benefits of the test. 3. All genetic testing should be voluntary. 4. It is the nurse s responsibility to ensure that the consent process includes discussion of any physical or psychologic harm. 5. Discussing the sharing of results with family does not ensure the client s informed consent or confidentiality. Page Ref: 51 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Assessment Learning Outcome: 3.6 Explain ways that nurses can advocate for and support clients and families undergoing genetic testing. 14) The staff development trainer is preparing content on the psychologic implications of genetic testing for a group of neonatal intensive care nurses. What should the trainer include in this instruction? Select all that apply. 1. Survivor guilt of other nonaffected children 2. Feelings of unworthiness and altered self-image 3. Carrier status interfering with relationships 4. Formation of higher expectations for the child 5. Stress of uncertainty while waiting for test results Answer: 1, 2, 3, 5 1. Survivor guilt may affect children with negative results if their siblings are positive. 2. A positive test result may lead to feelings of unworthiness and may disturb self-image. 3. Concerns about carrier status may interfere with development of intimacy and interpersonal relationships. 4. The parent and other family members may unconsciously form lowered expectations for the child or adolescent. 5. Uncertainty and stress associated with making a decision to undertake genetic testing may extend into weeks or even months before results are available. Page Ref: 51

11 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Planning/Teaching/Learning Learning Outcome: 3.6 Explain ways that nurses can advocate for and support clients and families undergoing genetic testing. 15) A client asks why a genetic pedigree is being prepared. What responses would be appropriate? Select all that apply. 1. Illustrates patterns of inheritance 2. Reduces the cost for genetic diagnostic testing 3. Provides guidance for reproductive risk teaching 4. Identifies appropriate diagnostic tests for the client 5. Identifies family members who would benefit from genetic counseling Answer: 1, 3, 5 1. A pedigree can illustrate patterns of inheritance. 2. A pedigree does not affect the cost of diagnostic testing. 3. On the basis of the pedigree, reproductive risk teaching for the individual and family can occur. 4. A pedigree will not identify appropriate diagnostic tests for the client. 5. A pedigree identifies family members who might benefit from a genetic consultation. Page Ref: 46 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Assessment Learning Outcome: 3.7 Describe the role of the nurses in assessing and communicating genetic risk, including eliciting a family history, creating a genetic pedigree, and incorporating genetics into physical assessment.

12 16) The nurse determines that a newborn has a minor genetic anomaly. What did the nurse most likely assess in this infant? Select all that apply. 1. Broad face 2. Wide-set eyes 3. Single palmar crease 4. Low anterior hairline 5. Upward-slanting eyes Answer: 1, 2, 3, 4 1. Minor anomalies include a broad face. 2. Minor anomalies include wide-set eyes. 3. Minor anomalies include single palmar crease. 4. Minor anomalies include low anterior hairline. 5. Upward-slanting eyes are an ethnic variation. Page Ref: 47 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Assessment Learning Outcome: 3.7 Describe the role of the nurses in assessing and communicating genetic risk, including eliciting a family history, creating a genetic pedigree, and incorporating genetics into physical assessment. 17) The nurse is reviewing a list of families scheduled for clinic visits. Which family would benefit from genetic counseling? 1. Family who has a child with cystic fibrosis 2. Family whose youngest child is overweight 3. Family whose oldest child wears eyeglasses 4. Family who has a neighbor with Down syndrome Answer: 1 1. Any couple who has had a child with a chromosomal abnormality may be at increased risk of having another child similarly affected. 2. There is no evidence to support that weight issues are caused by genetic anomalies. 3. Wearing eyeglasses is not a genetic anomaly. 4. Having a neighbor with Down syndrome has no effect on the family s genetic background. Page Ref: 52 Cognitive Level: Analyzing

13 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Assessment Learning Outcome: 3.8 Identify children or families who might benefit from genetic information and services or referral to a genetic professional, and explain the nurse s role in supporting the family undergoing 18) A family is scheduled for a genetic consultation. What should the nurse explain to the family about this appointment? Select all that apply. 1. A diagnosis will be made. 2. Photographs may be taken. 3. An interview will be conducted. 4. A geneticist will examine the child. 5. The appointment can last several hours. Answer: 2, 3, 4, 5 1. A definitive diagnosis may not be possible at the initial visit. 2. Photos may be taken. 3. An interview will be done with the parents and the child. 4. A geneticist will examine the child and possibly the parents. 5. The initial visit can last several hours. Page Ref: 52 centered care: information, communication, and education AACN Essential Competencies: Nursing Process: Implementation Learning Outcome: 3.8 Identify children or families who might benefit from genetic information and services or referral to a genetic professional, and explain the nurse s role in supporting the family undergoing

14 19) A client scheduled for genetic testing is concerned that an employer will learn about the testing and terminate the client s employment. How should the nurse respond to this client? 1. There really is not anything that can be done. 2. The insurance company has to report the testing to the employer. 3. Your employer will have this information from the healthcare claim. 4. There is a federal law prohibiting employers from using genetic information for employment purposes. Answer: 4 1. The client should not be concerned because of a federal law prohibiting employers from discriminating based upon genetic testing. 2. The insurance company is prohibited from disclosing information to the employer. 3. The healthcare claim is not sent to the employer. 4. Federal legislation to prohibit discrimination based on genetic information in health insurance and employment (the Genetic Information Nondiscrimination Act [GINA]) was implemented in November As a federal law, GINA offers protection to Americans in all states. Page Ref: 51 Standards: QSEN Competencies: I.A.7. Explore ethical and legal implications of clientcentered care AACN Essential Competencies: IV.8. Uphold ethical standards related to data security, regulatory requirements, confidentiality and clients right to privacy NLN Competencies: Context and Environment; Knowledge; Code of Ethics; regulatory and professional standards Nursing/Integrated Concepts: Nursing Process: Implementation Learning Outcome: 3.9 Discuss ethical, legal, and social implications of genomic health care. 20) The nurse learns that a client from a different country and culture was married to her first cousin before moving to the United States. The couple is expecting their first child in 4 months. What should the nurse consider when counseling this client? 1. Birth control 2. Carrier testing 3. Pregnancy termination 4. Legal issues in the United States Answer: 2 1. Counseling on birth control would be inappropriate. 2. In many other cultures, marriage of first cousins and others who are related by blood is customary or even preferred. Genetic counseling involves identifying consanguinity and offering risk information, carrier testing, and nondirective counseling. 3. Counseling on pregnancy termination would be inappropriate. 4. The legal issues would not apply since the marriage occurred before coming to the United States. Page Ref: 40

15 Standards: QSEN Competencies: I.A.1. Integrate understanding of multiple dimensions of client centered care AACN Essential Competencies: IX.2. Recognize the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness, using a constructed pedigree from collected family history information as well as standardized symbols and terminology NLN Competencies: Context and Environment; Practice; apply health promotion/disease prevention strategies; apply health policy Nursing/Integrated Concepts: Nursing Process: Implementation Learning Outcome: 3.9 Discuss ethical, legal, and social implications of genomic health care.