Invasive fetal testing

Abstract

Purpose of review: Research on prenatal diagnosis and invasive fetal testing has continued at a rapid pace. Several studies that will have a profound impact on the way prenatal care will be provided to pregnant women have been published in the literature during the last year. These publications will be reviewed and their impact described.

Recent findings: The main areas of interest in the recent literature covered in this review are first-trimester screening for aneuploidy, recent information on loss rates due to amniocentesis and chorionic villus sampling, and current work on invasive fetal therapy.

Summary: It appears that first-trimester screening is at least comparable if not superior in efficacy to second-trimester serum screening. This will be a test that will be utilized increasingly by both low and high-risk patients for aneuploidy. Of utility to a much smaller number of patients, invasive fetal therapy for meningomyelocele repair, twin-to-twin transfusion syndrome and fetal cardiac malformations is being evaluated in a scientifically more rigorous manner.