无创产前筛查(NIPT)的"不准确性"与阳性结果的验证

无创产前筛查(Non-Invasive Prenatal Testing, NIPT)通过检测孕妇外周血中的游离胎儿DNA来筛查胎儿常见非整倍体,已成为产前筛查中重要的一项技术,甚至可作为高龄孕妇初步筛查的首选方式。但因为难免会出现假阴性和假阳性,所以其阴性结果也并不能总是保证胎儿正常。而对于阳性结果,需通过有创产前诊断进行验证。目前,我国临床主要采用的有创产前诊断方法有绒毛活检(Chorionic Villous Sampling, CVS)、羊膜腔穿刺(Amniocentesis, AC)和脐血穿刺。绒毛活检和羊膜腔穿刺术是NIPT阳性结果验证的主要方式。本文主要对造成NIPT假阳性和假阴性结果的原因及其阳性结果的验证进行综述。

The Inaccuracy of Non-Invasive Prenatal Testing and the Confirmation of the Positive Results

ABSTRACT: Noninvasive prenatal testing (NIPT) has become an important technique in prenatal screening which screen the com- mon aneuploidy through detecting the cell free fetal DNA in the peripheral blood of pregnant woman. It can be the first screening choice of the pregnant woman in advanced age. However, the negative results could not always guarantee the normal fetal and the positive re- sults should be confirmed by the invasive methods because the inevitable false negative and false positive results. At present, the main clinical use of invasive prenatal diagnostic methods are chorionic villous sampling, amniocentesis and umbilical blood sampling, and the first two are the common methods for confirming the positive results. This article mainly reviews the causes of the false negative and the false positive results and the confirmation of the positive results in noninvasive prenatal testing.