Abstract
THE DETECTION OF TRISOMY 21 ERAN BORNSTEIN, EREZ LENCHNER, ALAN DONNENFELD, YONI BARNHARD, DAVID SEUBERT, TOMER SINGER, MICHAEL DIVON, New York University, Maternal Fetal Medicine, New York, New York, New York University Statistics and Mapping laboratory, New York, Genzyme Genetics, Pennsylvania, Lenox Hill Hospital, Obstetrics & Gynecology, New York, New York OBJECTIVE: To determine the Odds Ratios of an abnormal first trimester screen (Ab1st), abnormal second trimester screen (Ab2nd) and abnormal genetic ultrasound (AbGU), either alone or in combination, in the detection of trisomy 21 (T21). STUDY DESIGN: A retrospective review of a Genzyme Genetics amniocentesis and CVS database (2006 to 2007) was performed. Specimens obtained following the detection of an Ab1st, Ab2nd and/or AbGU comprised the study group. Women who underwent amniocentesis solely for maternal anxiety or advanced maternal age served as controls. The prevalence of T21 in study cases and controls was compared with the use of Pearson Chi-Square testing. RESULTS: 98,338 specimens were analyzed. Odds ratio (O.R.) for the detection of T21 are presented in the table. CONCLUSION: Based on a very large amniocentesis and CVS database, our results indicate that Ab1ST is the single best predictor of T21. Furthermore, the presence of multiple abnormal screening tests significantly increases the risk of T21.
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