Kagan K O, Hoopmann M, Kozlowski P
Department of Obstetrics and Gynaecology, University of Tübingen.
praenatal.de, Praenatal-Medizin und Genetik Düsseldorf.
Geburtshilfe Frauenheilkd. 2012 Nov;72(11):998-1003. doi: 10.1055/s-0032-1327960.
Over the last few years, first trimester screening between 11+ and 13+ weeks of gestation has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications including pre-eclampsia or pre-term birth. Screening for trisomies 21/18 and 13 using maternal and gestational age, foetal nuchal translucency, and maternal serum biochemistry was formerly the main reason for first trimester screening. However, today this is only one part of the overall examination. In the near future, the analysis of foetal DNA obtained from maternal blood will be used to supplement first trimester screening for aneuploidy or even replace current screening methods. In this review we show how prenatal medicine specialists can use foetal DNA analysis.
在过去几年中，孕11⁺至13⁺周的孕早期筛查已成为孕期最重要的超声检查之一，因为它能让医生预测包括子痫前期或早产在内的多种妊娠并发症。利用孕妇年龄、孕周、胎儿颈部透明带厚度和孕妇血清生化指标筛查21/18和13三体曾是孕早期筛查的主要原因。然而，如今这只是全面检查的一部分。在不久的将来，对从母血中获取的胎儿DNA进行分析将用于补充孕早期非整倍体筛查，甚至取代当前的筛查方法。在本综述中，我们展示了产前医学专家如何利用胎儿DNA分析。
