When assessing the knowledge of new parents of a child born with Maple Syrup Urine Disease (MSUD), an autosomal recessive inherited disorder, which statement is true?
Only one copy of the abnormal gene is required for the disorder to be expressed.
The disorder is carried on the X chromosome.
Both genes of a pair must be abnormal for the disorder to be expressed.
The disorder occurs in males and heterozygous females.
The Correct Answer is C
Choice A rationale:
Incorrect. This statement describes autosomal dominant inheritance, not autosomal recessive inheritance. In autosomal dominant inheritance, only one copy of the abnormal gene is needed to cause the disorder. However, in autosomal recessive inheritance, both copies of the gene must be abnormal for the disorder to be expressed.
Choice B rationale:
Incorrect. This statement describes X-linked recessive inheritance, not autosomal recessive inheritance. In X-linked recessive inheritance, the abnormal gene is located on the X chromosome. Males have only one X chromosome, so if they inherit the abnormal gene, they will have the disorder. Females have two X chromosomes, so they must inherit two copies of the abnormal gene (one from each parent) to have the disorder.
Choice C rationale:
Correct. This statement accurately describes autosomal recessive inheritance. In autosomal recessive inheritance, both copies of the gene must be abnormal for the disorder to be expressed. This means that both parents must be carriers of the abnormal gene in order for their child to have the disorder.
Choice D rationale:
Incorrect. This statement is partially correct, but it does not fully describe autosomal recessive inheritance. The disorder can occur in both males and females, but it is not limited to heterozygous females. Homozygous females (those who have two copies of the abnormal gene) will also have the disorder.
Nursing Test Bank
Naxlex Comprehensive Predictor Exams
Related Questions
Correct Answer is A
Explanation
Choice A rationale:
Naloxone is an opioid antagonist. It works by binding to opioid receptors in the brain and body, reversing the effects of opioids. This includes respiratory depression, which is a major concern in neonates exposed to opioids during labor.
Nalbuphine is an opioid agonist-antagonist. This means that it has both agonist and antagonist effects at opioid receptors. At low doses, it acts primarily as an agonist, providing pain relief. However, at higher doses, it can also act as an antagonist, blocking the effects of other opioids.
Naloxone can effectively reverse the respiratory depression caused by nalbuphine in neonates. It is a safe and effective medication that is commonly used for this purpose.
Naloxone should be readily available whenever opioids are administered to a laboring woman. This is to ensure that it can be administered promptly if the neonate experiences respiratory depression.
Choice B rationale:
Ephedrine is a sympathomimetic drug. It works by stimulating the sympathetic nervous system. This can cause a number of effects, including increased heart rate, blood pressure, and respiratory rate.
Ephedrine is not effective in reversing the respiratory depression caused by opioids. It may even worsen the situation by increasing the neonate's oxygen demand.
Ephedrine is not a safe or effective medication for use in neonates. It can cause serious side effects, such as tachycardia, hypertension, and arrhythmias.
Choice C rationale:
Promethazine is a phenothiazine antiemetic. It is commonly used to treat nausea and vomiting.
Promethazine does not have any effects on opioid receptors. It is not effective in reversing the respiratory depression caused by opioids.
Promethazine can cause sedation and respiratory depression in neonates. It should be used with caution in this population.
Choice D rationale:
Fentanyl is a potent opioid analgesic. It is similar to nalbuphine in that it is an opioid agonist.
Fentanyl would not be effective in reversing the respiratory depression caused by nalbuphine. In fact, it would likely worsen the situation by further depressing the neonate's respiratory system.
Correct Answer is D
Explanation
Choice A rationale:
Fetal lung maturity is not assessed through chorionic villus sampling (CVS). It's primarily evaluated through amniocentesis, a different prenatal diagnostic procedure that involves sampling amniotic fluid.
CVS focuses on placental tissue, not lung development.
It's essential for clients to understand the specific purposes of each prenatal test to make informed decisions and have accurate expectations.
Choice B rationale:
While a non-stress test (NST) might be recommended after CVS in some cases, it's not a routine part of the procedure.
The decision to conduct an NST is based on individual risk factors and assessment by healthcare providers.
It's essential for clients to understand the potential need for additional testing but not assume it's always required.
Choice C rationale:
CVS is considered an invasive procedure, as it involves entering the uterus to collect placental tissue.
Non-invasive prenatal testing (NIPT) methods, which analyze fetal DNA in maternal blood, are available for screening purposes.
It's crucial for clients to differentiate between invasive and non-invasive prenatal testing options to make informed choices based on their preferences and risk factors.
Choice D rationale:
This statement accurately reflects the primary purpose of CVS.
It's a diagnostic procedure that can detect various genetic abnormalities, such as Down syndrome, cystic fibrosis, and TaySachs disease, during the first trimester of pregnancy.
Understanding the ability to detect genetic abnormalities early in pregnancy allows clients to make informed decisions about their pregnancy management and prepare for potential outcomes.
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