School of Biomedical and Biological Sciences, Plymouth University Peninsula School of Medicine and Dentistry, Plymouth University, Plymouth, PL4 8AA, UK.
Department of Obstetrics, St Michael's Hospital, Southwell Street, Bristol, BS2 8EG, UK.
Diagnostics (Basel). 2013 May 31;3(2):291-314. doi: 10.3390/diagnostics3020291.
Down's syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated with around a 1% risk of miscarriage new non-invasive tests have been long sought after. Recently, the most promising approach for non-invasive prenatal diagnosis (NIPD) has been provided by the introduction of next generation sequencing (NGS) technologies. The clinical application of NIPD for DS detection is not yet applicable, as large scale validation studies in low-risk pregnancies need to be completed. Currently, prenatal screening is still the first line test for the detection of fetal aneuploidy. Screening cannot diagnose DS, but developing a more advanced screening program can help to improve detection rates, and therefore reduce the number of women offered invasive tests. This article describes how the prenatal screening program has developed since the introduction of maternal age as the original "screening" test, and subsequently discusses recent advances in detecting new screening markers with reference to both proteomic and bioinformatic techniques.
唐氏综合征（DS）是最常见的导致发育迟缓的遗传原因，发病率为每 800 例活产儿中就有 1 例，也是女性选择进行侵入性产前诊断的主要原因。然而，由于侵入性检测与约 1%的流产风险相关，因此长期以来一直寻求新的非侵入性检测方法。最近，下一代测序（NGS）技术的引入为非侵入性产前诊断（NIPD）提供了最有前途的方法。用于 DS 检测的 NIPD 的临床应用尚不可用，因为需要在低风险妊娠中完成大规模验证研究。目前，产前筛查仍然是检测胎儿非整倍体的一线测试。筛查不能诊断 DS，但开发更先进的筛查方案有助于提高检测率，从而减少提供侵入性测试的女性数量。本文描述了自将母亲年龄作为最初的“筛查”测试引入以来，产前筛查计划是如何发展的，随后还讨论了近年来利用蛋白质组学和生物信息学技术检测新的筛查标志物的进展。
