Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.

We report the occurrence of multiple acyl-CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non-consanguineous couple. In the first pregnancy, the maternal serum alpha-fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy.

Choroid plexus cysts: Is biochemical testing a valuable adjunct to targeted ultrasonography?

Objective: We sought to determine whether biochemical testing is a valuable adjunct to ultrasonography in selecting patients with fetal choroid plexus cysts for amniocentesis.

Study Design: The study population consists of 128 patients who had fetal choroid plexus cysts detected during ultrasonography performed between 18 and 22 weeks' gestation. The patients had genetic counseling, and amniocentesis and biochemical testing were offered to all patients.

Elevated maternal serum alpha-fetoprotein levels: what is the risk of fetal aneuploidy?

Objective: Our purpose was to present the findings of a project to determine the efficacy of including routine fetal karyotyping in the investigation of an elevated maternal serum alpha-fetoprotein concentration.

Study Design: Targeted ultrasonographic examinations were performed in 658 patients with elevated maternal serum alpha-fetoprotein levels. The scans were normal in 557 women, of whom 427 consented to amniocentesis; 435 fetuses were karyotyped.