“应用孕妇血清DNA序列进行胎儿18三体和13三体的非侵入性产前诊断”点评

1 原文摘要 Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21.However,whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18is unclear due to the lack of data from a large sample set.We studied 392 pregnancies,among which 25involved a trisomy 13fetus and