下一代测序(NGS)技术的引入对产前诊断产生了重大影响。在具有结构异常和阴性染色体分析的胎儿中,产前外显子组测序(pES)的频率越来越高。实际诊断价值差异很大,偶然/次要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,以评估诊断率,以及pES的不确定和阴性结果率。论文分为两组。前者包括出现结构异常的胎儿,不管涉及的器官;后者侧重于特定的类别异常。还收集了有关非信息性或阴性结果的现有发现。在第一组中,加权平均诊断率为19%,和不确定的发现率12%。在第二组中,由于样本量和纳入标准的差异,百分比变化很大,构成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举足轻重的作用,尽管在访问标准方面更加同质性,并且在有争议的信息管理的临床管理方面达成共识,但设想在不久的将来可以广泛使用。
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.