The National Institute of Child Health and Human Development (NICHD), the Society for Maternal–Fetal Medicine, and the American College of Obstetricians and Gynecologists (ACOG), cosponsored a workshop on December 16–17, 2004, to discuss the evidence for first-trimester Down syndrome screening and to explore the effects of combining first- and second-trimester screening, given the results of recent U.S. trials. The experts evaluated the evidence for offering first-trimester screening to provide individual risk assessment for Down syndrome. First-trimester screening has been demonstrated to provide efficient Down syndrome risk assessment, with a detection rate of 84% (95% confidence interval 80–87%), which is clinically comparable to the second-trimester quadruple screen at a fixed false-positive rate of 5%. The participants at the workshop concluded that at this time there is sufficient evidence to support implementing first-trimester Down syndrome risk assessment in obstetric practice in the United States, provided that certain requirements can be met. These requirements include training and quality control standards for first-trimester nuchal translucency measurement and laboratory assays, access to chorionic villus sampling, and appropriate counseling regarding screening options.
Experts reviewed the evidence for offering first-trimester Down syndrome screening and noted the need for additional training, laboratory, and clinical resources for wider implementation.
From the 1Pregnancy and Perinatology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland; and 2Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania.
See related editorial on page 2.
This workshop was cosponsored by the National Institute of Child Health and Human Development, Society for Maternal–Fetal Medicine, and the American College of Obstetricians and Gynecologists. Workshop participants are listed in the appendix.
Corresponding author: Uma M. Reddy, MD, MPH, 6100 Executive Boulevard, Room 4B03F, Bethesda, MD 20892-7510; e-mail: firstname.lastname@example.org.