A 39-year-old pregnant woman at 16 weeks gestation recently underwent a quad-screen which revealed elevated beta-hCG, elevated inhibin A, decreased alpha-fetoprotein, and decreased estradiol. An ultrasound was performed which found increased nuchal translucency. Which of the following is recommended for diagnosis?
ABiopsy and pathologic examination of fetus
BConfirmatory amniocentesis and chromosomal analysis of the fetal cells
CFetus is normal, continue with pregnancy as expected
DMaternal karyotype
ECell-free fetal DNA analysis
A 27-year-old female in her 20th week of pregnancy presents for a routine fetal ultrasound screening. An abnormality of the right fetal kidney is detected. It is determined that the right ureteropelvic junction has failed to recanalize. Which of the following findings is most likely to be seen on fetal ultrasound:
ARenal cysts
BDuplicated ureter
CBilateral renal agenesis
DPelvic kidney
EUnilateral hydronephrosis
A 37-year-old woman comes for a follow-up prenatal visit at 18 weeks' gestation. At 12 weeks' gestation, ultrasonography showed increased nuchal translucency and pregnancy-associated plasma protein A (PAPP-A) was decreased by 2 standard deviations. Chorionic villus sampling showed a 47, XX, +21 karyotype. During this visit, ultrasonography shows a hypoplastic nasal bone, shortened femur length, shortened middle phalanges of the fifth digits with clinodactyly. A quadruple marker test would most likely show which of the following sets of findings? $$$ α-Fetoprotein (AFP) %%% Estriol %%% β-Human chorionic gonadotropin (HCG) %%% Inhibin A $$$
A↓ ↓ ↓ ↓
B↑ normal normal normal
C↓ ↓ ↑ ↑
DNormal normal normal normal
E↓ ↓ ↓ normal
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