Genetics and Women's Health Genetics and Women's Health Genetics and Women's Health

1. A nurse is providing education to a patient who is planning a pregnancy and has a family history of cystic fibrosis. The nurse explains that cystic fibrosis is an autosomal recessive disorder. Which of the following statements by the patient indicates a correct understanding of autosomal recessive inheritance? A) "Both parents must carry the gene for the child to be affected." B) "Only one parent must have the gene for the child to be affected." C) "The child has a 50% chance of inheriting the disorder." D) "The child will only inherit the disorder if the mother has the gene." Answer: A) "Both parents must carry the gene for the child to be affected." Rationale: Autosomal recessive disorders require both parents to carry the gene for their child to be affected. If both parents are carriers, there is a 25% chance the child will inherit the disorder. ________________________________________ 2. A woman who is pregnant undergoes genetic counseling after her first trimester screening indicates a high risk for Down syndrome. Which of the following diagnostic tests is most definitive for diagnosing Down syndrome? A) Chorionic villus sampling (CVS) B) Amniocentesis C) Serum alpha-fetoprotein (AFP) test D) Non-invasive prenatal testing (NIPT) Answer: B) Amniocentesis Rationale: Amniocentesis is the most definitive diagnostic test for Down syndrome, as it provides direct analysis of fetal chromosomes. ________________________________________ 3. A 35-year-old woman asks the nurse about the risk of having a child with a genetic disorder. Which of the following factors is most commonly associated with an increased risk of chromosomal abnormalities? A) Age of the father B) A family history of genetic disorders C) Maternal age of 35 or older D) Previous pregnancies with no complications Answer: C) Maternal age of 35 or older Rationale: Maternal age of 35 or older increases the risk of chromosomal abnormalities, such as Down syndrome, in the fetus. ________________________________________ 4. A patient is referred to genetic counseling due to a family history of breast cancer. The nurse is discussing BRCA1 and BRCA2 mutations. Which of the following is true regarding these mutations? A) BRCA1 and BRCA2 mutations are X-linked dominant disorders. B) BRCA mutations increase the risk for both breast and ovarian cancer. C) Men with BRCA mutations are not at increased risk for breast cancer. D) BRCA mutations only affect women. Answer: B) BRCA mutations increase the risk for both breast and ovarian cancer. Rationale: BRCA1 and BRCA2 mutations increase the risk for both breast and ovarian cancers, and they can affect both men and women, though the risk in men is lower. ________________________________________ 5. A nurse is providing education about genetic testing for a woman with a family history of Huntington's disease. Which of the following statements is true about Huntington's disease? A) It is an autosomal recessive disorder. B) It typically manifests later in life, often between 30 and 50 years of age. C) The disorder can be prevented with early intervention. D) Only men are affected by the disease. Answer: B) It typically manifests later in life, often between 30 and 50 years of age. Rationale: Huntington's disease is an autosomal dominant disorder that typically manifests later in life, usually between 30 and 50 years of age. It cannot be prevented with early intervention. ________________________________________ 6. A woman is diagnosed with a hereditary disorder that involves the absence of one X chromosome. This is an example of which of the following? A) Turner's syndrome B) Klinefelter's syndrome C) Cystic fibrosis D) Down syndrome Answer: A) Turner's syndrome Rationale: Turner's syndrome is characterized by the absence of one X chromosome, which leads to a variety of physical and developmental issues. ________________________________________ 7. A patient asks the nurse why she should undergo genetic screening before starting a pregnancy. Which of the following is the best response by the nurse? A) "Genetic screening is required for all pregnancies." B) "It can help identify potential risks for inherited genetic disorders in the fetus." C) "It guarantees a healthy baby." D) "It is only recommended for women over the age of 40." Answer: B) "It can help identify potential risks for inherited genetic disorders in the fetus." Rationale: Genetic screening helps identify potential risks for inherited disorders, allowing for informed decision-making. It is not required but can provide important information. ________________________________________ 8. A woman with a family history of sickle cell disease asks about genetic testing. The nurse explains that sickle cell disease is an autosomal recessive disorder. Which of the following is most likely to be the patient's genetic status? A) Homozygous for the sickle cell gene B) Carrier of the sickle cell gene C) Unaffected, but at risk to develop the disorder D) Completely unaffected and not at risk for passing it on Answer: B) Carrier of the sickle cell gene Rationale: Individuals with a family history of sickle cell disease are likely to be carriers of the sickle cell gene. Carriers have one normal gene and one sickle cell gene but do not typically show symptoms. ________________________________________ 9. A nurse is explaining the concept of genetic inheritance to a couple with a family history of cystic fibrosis. Which of the following patterns of inheritance is associated with cystic fibrosis? A) X-linked dominant B) Autosomal recessive C) Autosomal dominant D) X-linked recessive