文献_2011-Noninvasive prenatal diagnosis of Down syndrome current knowledge and novel insights.pdfVIP

J. Perinat. Med. 40 (2012) 319–327 • Copyright © by Walter de Gruyter • Berlin • Boston. DOI 10.1515/jpm-2011-0282 Review Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights 1 2 Keywords: Cell-free fetal DNA; Down syndrome; fetal cells; Stavros Sifakis , Nikos Papantoniou , 1 2, fetal nucleic acids in maternal circulation; noninvasive prena- Dimitra Kappou and Aris Antsaklis * 1 tal diagnosis; trisomy 21. Department of Obstetrics and Gynecology , University Hospital of Heraklion, Crete , Greece 2 First Department of Obstetrics and Gynecology , Alexandra Introduction Hospital, University of Athens, Athens , Greece Down syndrome (trisomy 21), which has an incidence of 1 in 800 live births, is considered to be the most common Abstract aneuploidy compatible with life and a major cause of men- tal retardation and serious congenital anomalies [19] . Current The noninvasive prenatal diagnosis of trisomy 21 (Down syn- screening tests for Down syndrome are based on the assess- drome) is an actively researched area of prenatal medicine, as ment of fetal sonographic markers and/or the evaluation of this is the most common aneuploidy compatible with life and a biochemical markers in maternal circulation during the fi rst major cause of mental retardation. The isolation of intact f