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.

Answer and Explanation

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.

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Correct Answer is A

Explanation

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.

A. The risk factor remains constant regardless of the number of affected children in the family. B. An autosomal recessive disease carries a one in eight risk of the second child also having the disorder. C. Disorders involving maternal ingestion of drugs carry a one in four chance of being repeated in the second child. D. With a dominant disorder, the likelihood of the second child also having the condition is 100%.

Correct Answer is B

Explanation

Choice A rationale:

This statement is incorrect. The risk factor for a genetic disorder can vary depending on the specific disorder and the family history. For example, the risk of having a child with an autosomal recessive disorder is higher if there is a history of the disorder in the family.

Additionally, some genetic disorders have a higher risk of recurrence than others. For example, the risk of having a child with cystic fibrosis is 25% if both parents are carriers of the gene.

It's crucial for nurses to be aware of the varying risk factors associated with different genetic disorders to provide accurate information and counseling to families.

Choice C rationale:

This statement is also incorrect. The risk of a disorder involving maternal ingestion of drugs being repeated in the second child depends on several factors, including the specific drug, the dose, and the timing of exposure.

It cannot be generalized to a one in four chance for all drug-related disorders. Nurses should consult with appropriate resources and specialists to determine the specific risks associated with different drugs and exposures.

Choice D rationale:

This statement is incorrect for autosomal dominant disorders. With an autosomal dominant disorder, the likelihood of the second child also having the condition is 50%, not 100%. Each child has a 50% chance of inheriting the affected gene from the affected parent.

It's essential for nurses to understand the inheritance patterns of different genetic disorders to provide accurate information and support to families.

Choice B rationale:

This statement is correct. An autosomal recessive disease carries a one in eight risk of the second child also having the disorder. This is because both parents must be carriers of the affected gene for a child to inherit the disorder.

If both parents are carriers, there is a 25% chance that each child will inherit two copies of the affected gene and have the disorder. However, there is also a 50% chance that each child will inherit only one copy of the affected gene and be a carrier, and a 25% chance that each child will inherit two normal copies of the gene and not be affected.

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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?

Nursing Test Bank

Naxlex Comprehensive Predictor Exams

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?

Correct Answer is A

Explanation

In the context of estimating and interpreting the recurrence risks for genetic disorders, which statement should nurses be aware of?

Correct Answer is B

Explanation

A pregnant woman comes in for her weekly fetal heart monitoring. She is 35 weeks’ gestation. After 20 minutes on the monitor, the fetal heart rate tracing shows 3 accelerations measuring 15 beats by 15 seconds. How should the nurse report this finding to the provider?

Which of the following is not a part of the nurse’s role in genetic counseling?

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