Recent Trends of Prenatal Screening for Down Syndrome.

Kim, Moon Young

Review

Korean Journal of Obstetrics & Gynecology 2006;49(1):5-17.
Published online January 1, 2006.

Recent Trends of Prenatal Screening for Down Syndrome.

Department of Obstetrics and Gynecology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. mykimdr@yahoo.co.kr

Abstract

Prenatal diagnosis of Down syndrome requires an invasive test in women considered to be at high risk after screening. At present, there are variable screening tests. For a 5% false-positive rate, the sensitivities are approximately 20-30% for maternal age alone, 60-70% for maternal age and second-trimester maternal serum markers, 85% for maternal age with fetal nuchal translucency and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks, and 94% for maternal age with fetal nuchal translucency and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks following second-trimester maternal serum markers. This article examines the studies of screening for Down syndrome and summarizes the results from major studies reporting on the implementation of this method.

Key Words: Down syndrome, Screening tests, Serum markers, Nuchal translucency