Samura Osamu
Department of Obstetrics and Gynecology, Jikei University School of Medicine, Tokyo, Japan.
J Obstet Gynaecol Res. 2020 Aug;46(8):1246-1254. doi: 10.1111/jog.14268. Epub 2020 Jun 17.
Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and data on NIPT for trisomy 21, 18 and 13 were collected. The data revealed that NIPT is more accurate than conventional first-trimester screening. However, there is still insufficient data regarding the clinical use of NIPT results in detecting sex chromosome aneuploidies or whole-genome regions. NIPT is already being used as a clinical screening method globally. However, it is an unconfirmed diagnostic test and the results must be interpreted with caution as they may yield false negatives, false positives or inconclusive results. Therefore, the aim of this review is to highlight the current status of information, including the different methodologies, shortcomings and implications, regarding NIPT after its adoption worldwide. It is important to include genetic counseling when implementing NIPT. Going forward, the knowledge obtained to date, including the associated shortcomings, must be considered in evaluating the effectiveness of NIPT in detecting genetic abnormalities.
自无创产前检测（NIPT）进行临床评估并收集21三体、18三体和13三体的NIPT数据以来，已经过去了八年。数据显示，NIPT比传统的孕早期筛查更准确。然而，关于NIPT结果在检测性染色体非整倍体或全基因组区域的临床应用方面，仍然缺乏足够的数据。NIPT已经在全球范围内被用作一种临床筛查方法。然而，它是一种未经证实的诊断测试，其结果必须谨慎解释，因为它们可能产生假阴性、假阳性或不确定的结果。因此，本综述的目的是强调NIPT在全球采用后的信息现状，包括不同的方法、缺点和影响。在实施NIPT时纳入遗传咨询很重要。展望未来，在评估NIPT检测遗传异常的有效性时，必须考虑到迄今为止获得的知识，包括相关的缺点。
