Delft Bioinformatics Lab, Delft University of Technology, Mekelweg 4, 2628 CD Delft, The Netherlands.
Expert Rev Mol Diagn. 2014 Jun;14(5):513-5. doi: 10.1586/14737159.2014.919855. Epub 2014 May 16.
Noninvasive prenatal testing is a relatively new screening method for the detection of fetal chromosome abnormalities using next-generation sequencing (NGS) of fetal DNA in maternal blood. Recently, the introduction of a new tool called WIthin SamplE COpy Number aberration DetectOR (WISECONDOR) marked a new era in prenatal screening. WISECONDOR detects copy number aberrations at a resolution that is almost comparable to classic karyotyping and requires only shallow sequencing, making noninvasive prenatal screening cost-effective. This emphasizes the role of NGS in the daily clinical practice of prenatal diagnosis and will require reorganization of clinical genetics laboratories to accommodate NGS. For prenatal diagnostics, WISECONDOR introduces an exciting development that will substantially improve the information provided to pregnant couples regarding their fetus's wellbeing.
非侵入性产前检测是一种使用下一代测序(NGS)检测母体血液中胎儿 DNA 来检测胎儿染色体异常的相对较新的筛查方法。最近,一种名为 WIthin SamplE COpy Number aberration DetectOR(WISECONDOR)的新工具的引入标志着产前筛查的新时代。WISECONDOR 以几乎可与经典核型分析相媲美的分辨率检测拷贝数异常,并且仅需要浅层测序,从而使非侵入性产前筛查具有成本效益。这强调了 NGS 在产前诊断的日常临床实践中的作用,并将需要重组临床遗传学实验室以适应 NGS。对于产前诊断,WISECONDOR 引入了一个令人兴奋的发展,将大大改善向孕妇夫妇提供的有关其胎儿健康的信息。