Introduction of cell-free fetal DNA (cff-DNA) testing in maternal blood opened possibilities to improve the performance of combined first-trimester screening (cFTS) in terms of better detection of trisomies and lowering invasive testing rate. The use of new molecular methods, such as chromosomal microarray analysis (CMA) and next-generation sequencing (NGS), has shown benefits in prenatal diagnosis of chromosomal and genetic diseases, which are not detectable with cff-DNA screening, but require an invasive procedure.

中文翻译：

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一项为期两年的前瞻性研究，评估胎儿染色体微阵列分析和下一代测序在高危妊娠中的表现

在母体血液中引入无细胞胎儿 DNA (cff-DNA) 检测为提高妊娠早期联合筛查 (cFTS) 的性能提供了可能，从而更好地检测三体性并降低侵入性检测率。使用新的分子方法，如染色体微阵列分析 (CMA) 和下一代测序 (NGS)，在染色体和遗传疾病的产前诊断中显示出益处，这些疾病通过 cff-DNA 筛查无法检测到，但需要侵入性程序。