Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China

• DOI: 10.1371/journal.pone.0133151
• Publication Date: 2015-07-15T14:38:29Z
• Authors: Weiwei Zhao; Fan Chen; Menghua Wu; Shuai Jiang; Binbin Wu; Huali Luo; Jingyi Wen; Chaohui Hu; Shihui Yu
• Keywords: Trisomy

This study describes the cytogenetic characteristics of 7,133 trisomy 21 (Tri21) identified from 247,818 consecutive postnatal cases karyotyped in a single reference laboratory China for period 4 years. The average detection rate Tri21 is 2.88% ranging 3.39% 2011 to 2.52% 2014. decreased rates over years might reflect possible impact noninvasive prenatal testing applied rapidly and elective termination affected pregnancies. 95.32% karyotypes are standard Tri21, 4.53% Robertsonian less than 1% other forms. There more mosaic older children adults, consistent with previous observations that clinical features individuals generally milder easily missed during perinatal period. male/female (M/F ratio) total 6,671 non-mosaic 1.50 1.53 respectively, significantly higher 0.93 all we karyotyped, 1.30 Down syndrome (DS) China, 1.20 livebirth Chinese population. In contrast, case has lower proportion males when compared indicating different underlying mechanisms leading their formations. Opposite M/F ratios subtypes ROB were observed. A long list rare or private where concurrently present was identified. large collection diversity findings wide age range allowed us determine frequency given fact this kind national epidemiological data lacking currently.