Review Practice Exercise 5

Antepartum Diagnostic Testing > Maternal Newborn

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Practice Exercise 5

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Total Questions : 5

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Question 1:

What is the primary purpose of carrier screening in prenatal care?

A. To diagnose fetal chromosomal abnormalities B. To identify parental genetic mutations C. To assess fetal growth restriction D. To evaluate amniotic fluid volume

Answer and Explanation

Choice A:

Carrier screening does not diagnose fetal chromosomal abnormalities. Fetal chromosomal abnormalities such as trisomy 21, 18, or 13 are detected using diagnostic tests like chorionic villus sampling or amniocentesis, or screening tools such as nuchal translucency and non-invasive prenatal testing.

Choice B:

Carrier screening identifies parental genetic mutations associated with specific heritable diseases. If both parents carry the same mutation, there is a 25% chance of passing the disorder to the fetus. This allows informed reproductive decision-making and counseling, which is the primary purpose of carrier screening.

Choice C:

Fetal growth restriction is assessed through ultrasound biometry, such as estimated fetal weight, abdominal circumference, and head circumference, not through carrier screening. Doppler velocimetry and serial growth scans are also used for monitoring growth restriction.

Choice D:

Evaluation of amniotic fluid volume is done through ultrasound using the amniotic fluid index (normal 8–24 cm) or the single deepest pocket (normal 2–8 cm). Carrier screening cannot provide any information about amniotic fluid volume.

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Question 2:

A pregnant client is referred for genetic counseling. Which of the following is a primary role of the genetic counselor?

A. To perform invasive diagnostic procedures like amniocentesis B. To provide a definitive diagnosis for all suspected genetic conditions C. To interpret genetic test results and provide non-directive counseling on available options D. To recommend specific reproductive choices to the family

Answer and Explanation

Choice A:

Genetic counselors do not perform invasive procedures such as amniocentesis or chorionic villus sampling. These procedures are carried out by physicians trained in maternal-fetal medicine or specialized obstetric care.

Choice B:

Genetic counselors do not provide definitive diagnoses. They explain test results and probabilities, but definitive diagnosis comes from laboratory confirmation or physician evaluation of genetic and phenotypic data.

Choice C:

The genetic counselor interprets genetic test results and provides non-directive counseling. Their primary role is to explain findings, clarify recurrence risks, and offer available reproductive or management options while respecting patient autonomy.

Choice D:

Genetic counselors do not recommend specific reproductive choices. They maintain a non-directive approach, ensuring clients understand risks and options but allowing families to make independent decisions.

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Question 3:

What is the chance of a fetus inheriting an autosomal recessive disorder if both parents are carriers?

A. 10% B. 25% C. 50% D. 75%

Answer and Explanation

Choice A:

A 10% chance is incorrect because Mendelian inheritance patterns follow 25%, 50%, or 0% probabilities, not 10%. Such a figure has no biological basis in autosomal recessive inheritance.

Choice B:

When both parents are carriers of the same autosomal recessive gene mutation, the probability of the fetus inheriting both defective alleles and expressing the disease is 25%. This is based on Mendelian genetics with a Punnett square cross of heterozygous parents.

Choice C:

A 50% chance refers to the probability of the fetus being a carrier, not affected. Half of the offspring inherit one normal allele and one mutated allele but remain asymptomatic carriers.

Choice D:

A 75% chance is incorrect because 75% of the offspring are either unaffected or carriers. Only 25% inherit both mutated alleles and present with the disease.

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Question 4:

Which of the following are purposes of carrier screening? Select all that apply

A. Identifying parental genetic mutations B. Diagnosing fetal chromosomal abnormalities C. Assessing risk of inherited conditions D. Evaluating fetal growth E. Determining fetal sex

Answer and Explanation

Choice A:

Carrier screening identifies parental genetic mutations associated with specific diseases. This allows couples to understand their reproductive risks and consider further testing or counseling.

Choice B:

Carrier screening does not diagnose fetal chromosomal abnormalities. Chromosomal abnormalities such as trisomy 21 or 18 are detected by karyotyping, chorionic villus sampling, amniocentesis, or non-invasive prenatal testing.

Choice C:

Carrier screening assesses the risk of inherited conditions by determining if both parents carry the same mutation. If they do, the risk of having an affected child is 25%.

Choice D:

Fetal growth is evaluated by ultrasound using biometric parameters like abdominal circumference, head circumference, and femur length. Carrier screening provides no information on growth.

Choice E:

Fetal sex can be determined by ultrasound after 14 weeks or through cell-free DNA testing, but not by carrier screening. Carrier testing focuses on parental mutations, not fetal chromosomal sex determination.

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Question 5:

Which of the following are indications for referring a patient to genetic counseling? Select all that apply

A. Advanced maternal age (≥35 years at delivery) B. Normal first-trimester ultrasound findings C. Family history of cystic fibrosis D. Positive carrier screening results E. Maternal history of seasonal allergies

Answer and Explanation

Choice A:

Advanced maternal age increases the risk of chromosomal abnormalities, especially trisomy 21, 18, and 13, warranting referral for genetic counseling.

Choice B:

Normal first-trimester ultrasound findings do not increase risk and do not require referral. Ultrasound is a reassuring finding rather than an indication for counseling.

Choice C:

A family history of cystic fibrosis indicates a possible inherited risk, making genetic counseling essential for assessing recurrence and testing options.

Choice D:

Positive carrier screening results require genetic counseling to explain autosomal recessive or X-linked inheritance and reproductive risk.

Choice E:

Seasonal allergies are not genetically inherited in a Mendelian pattern and do not pose risks that require prenatal genetic counseling.

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Practice Exercise 5

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