Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
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DOI：
10.3390/diagnostics11020224
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发表时间：
2021-02-02
期刊：
影响因子：
--
通讯作者：
Marchionni E
中科院分区：
文献类型：
--
作者：
Guadagnolo D;Mastromoro G;Di Palma F;Pizzuti A;Marchionni E
新一代测序技术的引入对产前诊断产生了重大影响。产前外显子组测序（pES）在结构异常和染色体分析阴性的胎儿中进行的频率越来越高。实际的诊断价值差异很大，偶然/继发或不确定的发现和阴性结果的作用尚未完全确定。我们进行了系统的文献综述，以评价pES的诊断率以及不确定性和阴性结果率。论文分为两组。前者包括出现结构异常的胎儿，无论涉及的器官如何;后者侧重于特定类别的异常。还收集了关于无信息或阴性结果的现有发现。在第一组中，加权平均诊断率为19%，不确定的发现率为12%。在第二组中，由于样本量和入选标准的差异，百分比差异极大，这是pES效率的主要决定因素。诊断pES的可用性及其应用在产前诊断中具有关键作用，尽管在准入标准方面更加同质化，并且在有争议的信息管理的临床管理方面达成共识，但预计在不久的将来会得到广泛使用。
The introduction of Next Generation Sequencing (NGS) technologies has exerted a significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed with increasing frequency in fetuses with structural anomalies and negative chromosomal analysis. The actual diagnostic value varies extensively, and the role of incidental/secondary or inconclusive findings and negative results has not been fully ascertained. We performed a systematic literature review to evaluate the diagnostic yield, as well as inconclusive and negative-result rates of pES. Papers were divided in two groups. The former includes fetuses presenting structural anomalies, regardless the involved organ; the latter focuses on specific class anomalies. Available findings on non-informative or negative results were gathered as well. In the first group, the weighted average diagnostic yield resulted 19%, and inconclusive finding rate 12%. In the second group, the percentages were extremely variable due to differences in sample sizes and inclusion criteria, which constitute major determinants of pES efficiency. Diagnostic pES availability and its application have a pivotal role in prenatal diagnosis, though more homogeneity in access criteria and a consensus on clinical management of controversial information management is envisageable to reach widespread use in the near future.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
3
作者：
Best S;Wou K;Vora N;Van der Veyver IB;Wapner R;Chitty LS
通讯作者：
Chitty LS
影响因子：
9.8
作者：
De Tomasi, Lara;David, Pierre;Jeanpierre, Cecile
通讯作者：
Jeanpierre, Cecile
影响因子：
8.8
作者：
Chandler, Natalie;Best, Sunayna;Chitty, Lyn S.
通讯作者：
Chitty, Lyn S.
影响因子：
8.8
作者：
de Koning, Maayke A.;Haak, Monique C.;Santen, Gijs W. E.
通讯作者：
Santen, Gijs W. E.