Babay Lilla Éva, Horányi Dániel, Rigó János, Nagy Gyula Richárd
I. Szülészeti és Nőgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Baross u. 27., 1088.
Orv Hetil. 2015 Jun 28;156(26):1041-8. doi: 10.1556/650.2015.30200.
The development of the new generation sequencing techniques brought a new era in the field of DNA sequencing, that also revolutionized the prenatal screening for aneuploidy. In order to provide a more complete view, the authors describe some first generation methods as well as the theoretical and technical background of the next generation methods. In the second part of this review, the authors focuse on non-invasive prenatal testing, which is a fetal cell-free DNA based method requiring advanced sequencing procedures. After discussing the theoretical and technical background, the authors review current application and utility of non-invasive prenatal testing. They conclude that non-invasive prenatal testing is the most effective screening test in high risk pregnancies and its efficiency can be justified in studies involving low risk pregnancies as well.
新一代测序技术的发展开创了DNA测序领域的新纪元，这也彻底改变了非整倍体的产前筛查。为了提供更全面的视角，作者描述了一些第一代方法以及新一代方法的理论和技术背景。在本综述的第二部分，作者聚焦于无创产前检测，这是一种基于胎儿游离DNA的方法，需要先进的测序程序。在讨论了理论和技术背景之后，作者回顾了无创产前检测的当前应用和效用。他们得出结论，无创产前检测是高危妊娠中最有效的筛查测试，其在低危妊娠研究中也具有合理性。
