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Prenatal Diagnosis

A 36-year-old primigravida at 20 weeks’ gestation presents to her obstetrician’s office with a complaint of leaking fluid. Sonographic examination performed confirms markedly decreased fluid, and midtrimester rupture of membranes is suspected. The patient elects to continue her pregnancy, and minimal amnionic fluid is present around the fetus. At term, her fetus is born with a right-sided clubbed foot. This is an example of which of the following?

a. Sequence

b. Disruption

c. Deformation

d. Malformation

The finding seen below was identified prenatally during sonographic examination and is an example of which of the following?

Used with permission from Dr. Dina Chamsy.

a. Syndrome

b. Disruption

c. Association

d. Malformation

The infant shown below was also born with a cleft palate. These findings are consistent with which of the following processes?

Used with permission from Valorie Butler.

a. Syndrome

b. Sequence

c. Association

d. Chromosome abnormality

A pregnant 25-year-old postdoctoral student presents for genetic counseling following a multiple marker screen that revealed an increased risk for an open neural-tube defect and trisomy 18. She is from France and her husband is from Great Britain. Her medical history is significant for a seizure disorder well controlled on phenytoin. Which of the following is NOT an expected possible contributing factor in her elevated risk for an open neural-tube defect?

a. Ethnicity

b. Medication exposure

c. Chromosome abnormality

d. None of the above

What is the recurrence risk for an open neural-tube defect after a couple has had one child born with anencephaly?

a. 3% to 5%

b. 10%

c. 25%


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