Prenatally detected trisomy 20 mosaicism

摘要: Background Trisomy 20 is one of the more common mosaic trisomies detected on amniocentesis and presents with a normal outcome in over 90% reported cases. Trisomic cells are almost never confirmed newborn blood only rarely found other fetal or placental samples. Nonetheless, some abnormal outcomes have been reported, including unexplained demise, intrauterine growth restriction, multiple congenital anomalies. Because lack molecular studies such cases, it unknown whether origin trisomy presence uniparental disomy (UPD) could influence outcome. Methods We present data six cases mosaicism, two by chorionic villous sampling (CVS) four (AF), submitted to our laboratory for studies. Results Conclusions A meiotic be these In addition, was excluded all which parents were available testing. The low levels amniotic fluid (0%, 10%, 11%, 12%) associated outcome. remaining had high (96% 58%) (developmental delay stillbirth IUGR severe oligohydramnios other). Including previously published there clear association level outcome, 4% when <40% trisomic detected. Higher also observed male fetuses as compared female (p = 0.01); however, no sex differences frequency outcomes. Copyright © 2005 John Wiley & Sons, Ltd.