A 33-year old primigravida comes to the office to discuss results of prenatal testing. The patient is at 12 weeks gestation based on her last menstrual period. She has been taking prenatal vitamins inconsistently due to pregnancy-related nausea. Maternal alpha-fetoprotein level is reduced, and an ultrasound reveals increased nuchal translucency. Chorionic villous sampling shows a fetal karyotype of 47, XX, +21. The fetus is at greatest risk of developing which of the following conditions?

Question

A 33-year old primigravida comes to the office to discuss results of prenatal testing.  The patient is at 12 weeks gestation based on her last menstrual period.  She has been taking prenatal vitamins inconsistently due to pregnancy-related nausea.  Maternal alpha-fetoprotein level is reduced, and an ultrasound reveals increased nuchal translucency.  Chorionic villous sampling shows a fetal karyotype of 47, XX, +21.  The fetus is at greatest risk of developing which of the following conditions?

Quizplus · Accepted Answer

Eductional Objective: Down syndrome (trisomy 21) is associated with decreased maternal serum alpha-fetoprotein and increased nuchal translucency.  Duodenal atresia is the most common gastrointestinal complication in these patients.

A 33-Year Old Primigravida Comes to the Office to Discuss