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 C

Explanation

The correct answer is choice c. Negative.

Choice A rationale:

“Satisfactory” is not a standard term used to describe the results of a contraction stress test (CST). The terms typically used are “negative,” “positive,” “equivocal,” or “unsatisfactory.”

Choice B rationale:

“Unsatisfactory” is used when the test cannot be interpreted due to inadequate contractions or other technical issues. In this case, the client is experiencing contractions every three minutes, and the fetal heart rate (FHR) is being monitored effectively.

Choice C rationale:

A “Negative” CST indicates that there are no late decelerations of the FHR during contractions, suggesting that the fetus is not experiencing significant distress and is likely tolerating the contractions well.

Choice D rationale:

A “Positive” CST would indicate the presence of late decelerations of the FHR with at least 50% of contractions, suggesting fetal hypoxia and compromised placental function. Since there are no decelerations in this scenario, this choice is incorrect.

A. Semen analysis B. Transvaginal ultrasound C. Hysterosalpingography D. Hysteroscopy

Correct Answer is A

Explanation

Choice A rationale:

Semen analysis is the initial test often performed in the evaluation of infertility. It's a non-invasive, cost-effective, and informative assessment of male fertility. Here's a detailed explanation of its significance:

Assessment of Sperm Quality:

Measures sperm count, motility (movement), and morphology (shape).

Abnormalities in any of these parameters can significantly impact the chances of conception.

Identification of Male Factor Infertility:

Contributes to approximately 40% of infertility cases.

Early identification of male factor infertility guides treatment options and avoids unnecessary testing for the female partner.

Non-Invasive and Cost-Effective:

Simple procedure involving the collection of a semen sample.

Relatively inexpensive compared to other fertility tests.

Informative Results:

Provides valuable insights into sperm health and potential causes of infertility.

Guides further diagnostic evaluation and treatment strategies.

Rationale for other choices:

Choice B: Transvaginal ultrasound

Primarily evaluates female reproductive organs.

Assesses uterine structure, ovarian function, and potential abnormalities like fibroids or cysts.

Not typically the first test in infertility evaluation unless there's a specific female-factor concern.

Choice C: Hysterosalpingography (HSG)

Assesses the patency of the fallopian tubes.

Involves X-ray imaging after injecting contrast dye into the uterus.

Often performed after semen analysis if male factor infertility is not identified.

Choice D: Hysteroscopy

A more invasive procedure involving direct visualization of the inside of the uterus.

Used to diagnose and treat uterine abnormalities such as polyps or fibroids.

Not typically a first-line test in infertility evaluation.

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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?

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Naxlex Comprehensive Predictor Exams

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Correct Answer is C

Explanation

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Correct Answer is A

Explanation

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