The nurse is assessing a newborn after delivery and observes the following: epicanthal folds, heart murmur, low-set ears, and poor muscle tone. What does the nurse suspect?
“Trisomy 21”
“Cystic Fibrosis”
“Tay-Sachs disease”
“Marfan syndrome”
The Correct Answer is A
Choice A rationale:
Epicanthal folds: These are skin folds that cover the inner corners of the eyes. They are a common characteristic of Trisomy 21, also known as Down syndrome.
Heart murmur: A heart murmur is an abnormal sound heard during a heartbeat. It can be caused by a variety of conditions, including Trisomy 21. Approximately half of babies with Down syndrome have a heart defect.
Low-set ears: This means that the ears are positioned lower on the head than usual. This is another common characteristic of Trisomy 21.
Poor muscle tone: This means that the muscles are weak and floppy. This is also a common characteristic of Trisomy 21.
Choice B rationale:
Cystic fibrosis: This is a genetic disorder that affects the lungs and digestive system. It is not typically associated with the physical features observed in this newborn. Newborns with cystic fibrosis typically present with meconium ileus, failure to thrive, and recurrent respiratory infections.
Choice C rationale:
Tay-Sachs disease: This is a rare genetic disorder that affects the nervous system. It is not typically associated with the physical features observed in this newborn. Infants with Tay-Sachs disease typically appear normal at birth, with symptoms developing around 6 months of age. These symptoms can include developmental delays, muscle weakness, seizures, and blindness.
Choice D rationale:
Marfan syndrome: This is a genetic disorder that affects the connective tissue. It is not typically associated with the physical features observed in this newborn. Individuals with Marfan syndrome typically have tall stature, long limbs, and hypermobile joints. They may also have eye problems, such as lens dislocation, and heart problems, such as aortic aneurysm.
Nursing Test Bank
Naxlex Comprehensive Predictor Exams
Related Questions
Correct Answer is D
Explanation
Choice A rationale:
Incorrect. The quad screen test does not examine fetal DNA to determine gender. That is the role of other tests, such as amniocentesis or chorionic villus sampling (CVS).
Gender determination is not a primary objective of the quad screen test.
Focusing on gender unnecessarily narrows the scope of the test's potential findings.
Choice B rationale:
Incorrect. The quad screen test does not use fetal tissue. It is a non-invasive blood test that measures levels of four substances in the mother's blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin A.
Fetal tissue sampling is more invasive and carries risks, while the quad screen is a safer alternative.
Clarifying the non-invasive nature of the test is crucial for informed consent and patient understanding.
Choice C rationale:
Incorrect. While AFP levels can be affected by maternal liver function, that is not the primary focus of the quad screen test.
Liver function tests are specifically designed to assess liver health, and they are not part of the quad screen panel.
Distinguishing between liver function assessment and AFP's role in screening for fetal anomalies is essential for accurate interpretation.
Choice D rationale:
Correct. The quad screen test measures levels of AFP, hCG, uE3, and inhibin A in the mother's blood. These substances can provide information about the risk of certain fetal chromosomal abnormalities and neural tube defects.
Elevated AFP levels can indicate an increased risk for neural tube defects such as spina bifida or anencephaly.
Low AFP levels can be associated with Down syndrome or other chromosomal abnormalities.
Understanding the specific disorders that can be indicated by AFP levels is crucial for patient counseling and further testing decisions.
Correct Answer is C
Explanation
The correct answer is C. Only one copy of the variant gene is needed for expression of the disease.
Choice A rationale:
Huntington's disease (HD) is not typically diagnosed in childhood. While symptoms can sometimes manifest in adolescence or early adulthood, the average age of onset is between 30 and 50 years old.
Early-onset HD, which occurs before the age of 20, is much rarer and accounts for only about 5-10% of cases.
It's crucial to convey accurate information about the typical age of onset to avoid unnecessary anxiety and unwarranted testing in children.
Choice B rationale:
The statement "If you are a carrier, there is a 25% chance your child will inherit the gene" is not entirely accurate for autosomal dominant disorders like HD.
If a parent has HD, each child has a 50% chance of inheriting the mutated gene, not 25%. This is because the parent with HD has one mutated copy of the gene and one normal copy.
During conception, each child randomly receives one copy of the gene from each parent. Therefore, there's a 50% chance the child will receive the mutated copy and a 50% chance they'll receive the normal copy.
Choice D rationale:
Referral to a genetic counselor is essential for all individuals with a family history of HD, regardless of their carrier status.
Genetic counselors can provide comprehensive information about HD, including: Inheritance patterns
Risk assessment
Testing options
Reproductive options
Support resources
Psychosocial counseling
They can assist individuals in making informed decisions about testing, family planning, and management of the condition.
Choice C is the correct answer because:
HD is indeed an autosomal dominant disorder, meaning that only one copy of the mutated gene is needed for an individual to develop the disease.
This contrasts with autosomal recessive disorders, which require two copies of the mutated gene (one from each parent) for the disease to manifest.
Understanding the pattern of inheritance is crucial for accurate risk assessment and genetic counseling.
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