A 32-year-old woman, gravida 2, para 1, at 14-weeks' gestation comes to the physician for a prenatal visit. Routine first trimester screening shows increased nuchal translucency, decreased β-hCG concentration, and decreased levels of pregnancy-associated plasma protein A. Amniocentesis shows trisomy of chromosome 13. This fetus is at increased risk for which of the following?
ADuodenal atresia
BCutis aplasia
CCystic hygroma
DOptic glioma
EProminent occiput
A 37-year-old primigravid woman comes to the physician at 13 weeks' gestation for a prenatal visit. She feels well. Her only medication is folic acid. Vital signs are within normal limits. Pelvic examination shows a uterus consistent in size with a 13-week gestation. Ultrasonography shows a nuchal translucency above the 99th percentile. Maternal serum pregnancy-associated plasma protein A is decreased and human chorionic gonadotropin concentrations are elevated to 2 times the median level. Which of the following is most likely to confirm the diagnosis?
AChorionic villus sampling
BCell-free DNA testing
CTriple screening test
DAmniocentesis
EQuadruple marker test
A 38-year-old woman, gravida 3, para 2, at 12 weeks' gestation comes to her obstetrician for a prenatal visit. Screening tests in the first trimester showed a decreased level of pregnancy-associated plasma protein and an increased level of β-hCG. A genetic disorder is suspected. Which of the following results from an additional diagnostic test is most likely to confirm the diagnosis?
ADecreased estriol in maternal serum
BIncreased inhibin A in maternal serum
CTriploidy in amniotic fluid
DIncreased nuchal translucency on ultrasound
ETrisomy 21 on chorionic villus sampling
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