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“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 18 is unclear due to the lack of data from a large sample set.We studied 392 pregnancies,among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus,by massively parallel sequencing.By using our previously reported standard z-score approach,we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.