Prenatal screeningDownloads

A 32-year-old G1P0 woman undergoes her 2nd-trimester ultrasound in a community hospital. During her prenatal care, she was found to have mild anemia, low levels of folate, and serum alpha-fetoprotein levels greater than 2 multiples of the median (MoM) on 2 separate occasions. Her 1st-trimester ultrasound was significant for the absence of the intracranial lucency, no visualization of the cisterna magna, and posterior shift of the brain stem. These 2nd-trimester ultrasound reports reveal the widening of the lumbosacral spine ossification centers and the presence of a sac in proximity to the lumbosacral defect. Which of the following statements best describes the congenital defect in the fetus?

A 29-year-old primigravid woman at 18 weeks’ gestation comes to the physician for her first prenatal visit. She works as a paralegal and lives with her husband. Her current pregnancy was unexpected, and she did not take any prenatal medications or supplements. Physical examination shows a uterus 2 inches above the umbilicus. The concentration of α-fetoprotein in the maternal serum and concentrations of both α-fetoprotein and acetylcholinesterase in the amniotic fluid are elevated. Ultrasonography of the uterus shows an increased amniotic fluid volume. The fetus most likely has which of the following conditions?