Friel Lara A, Czerwinski Jennifer L, Singletary Claire N
Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Health Science Center at Houston, Houston, Texas.
Department of Obstetrics, Gynecology, and Reproductive Sciences and Pediatrics, The University of Health Science Center at Houston, Houston, Texas.
Am J Perinatol. 2014 Oct;31(9):759-64. doi: 10.1055/s-0033-1359717. Epub 2013 Dec 11.
Noninvasive prenatal testing (NIPT) via cell-free fetal DNA in the maternal circulation is a highly sensitive and specific new testing option. The objective of this study was to determine the impact of NIPT on the uptake of first trimester screening (FTS) and invasive genetic testing.
Uptake of prenatal testing was investigated in women referred for advanced maternal age or abnormal screening to the University of Texas Health Maternal-Fetal Medicine Clinics in Houston. Patients who presented from August to November 2011, before clinical introduction of NIPT, were compared with patients who presented from March to June 2012, after its introduction.
In patients referred between 14 and 22 weeks gestational age, invasive genetic testing was significantly reduced following the introduction of NIPT (35.4 vs. 17.9%, p < 0.05). For patients referred at < 14 weeks gestational age, FTS was significantly reduced with NIPT introduction (89.1 vs. 59.1%, p < 0.05); however, invasive genetic testing was not significantly different (20.0 vs. 14.0%, p > 0.05).
NIPT has made an impact on the practice of maternal-fetal medicine by significantly decreasing the number of second trimester diagnostic tests performed. In addition, patients interested in early screening information appear to prefer the higher sensitivity and specificity of NIPT.
通过母体循环中的游离胎儿DNA进行无创产前检测（NIPT）是一种高度敏感且特异的新检测方法。本研究的目的是确定NIPT对孕早期筛查（FTS）和侵入性基因检测应用的影响。
对因高龄或筛查异常转诊至休斯顿德克萨斯大学健康母婴医学诊所的女性的产前检测应用情况进行调查。将2011年8月至11月（NIPT临床应用前）就诊的患者与2012年3月至6月（NIPT应用后）就诊的患者进行比较。
在孕14至22周转诊的患者中，NIPT应用后侵入性基因检测显著减少（35.4%对17.9%，p<0.05）。对于孕龄<14周转诊的患者，NIPT应用后FTS显著减少（89.1%对59.1%，p<0.05）；然而，侵入性基因检测无显著差异（20.0%对14.0%，p>0.05）。
NIPT通过显著减少孕中期诊断检测的数量，对母婴医学实践产生了影响。此外，对早期筛查信息感兴趣的患者似乎更喜欢NIPT更高的敏感性和特异性。
