非侵入性产前检测(NIPT)的引入改变了产前筛查的前景。各国正在探索将NIPT纳入其国家产前筛查计划的方法,作为一级或二级测试。这项研究旨在描述在引入NIPT作为荷兰国家产前筛查计划中的第二层和第一层测试后,胎儿非整倍体筛查的摄取如何变化。
荷兰的一项基于人口的登记研究,记录胎儿非整倍体筛查的摄取。使用国家注册系统回顾性收集了2007年1月至2019年3月期间选择进行妊娠早期联合检查(FCT)或一级NIPT的所有孕妇的数据。计算胎儿非整倍体筛查(FCT和NIPT)的摄取百分比,并按地区和母亲年龄分层。使用趋势分析和卡方检验确定统计显著性。
在2007年至2013年期间,FCT摄取从14.8%增加到29.5%(P=0.004)。2014年4月,NIPT作为FCT(TRIDENT-1研究)后高危女性的二级测试引入。FCT摄入量从2013年的29.5%上升到2015年的34.2%(P<0.0001)。在2017年4月引入NIPT作为所有女性的第一层测试(TRIDENT-2研究)之后,FCT吸收率从2016年的35.8%大幅下降至2018年的2.6%(P<0.0001)。NIPT摄入量在2018年增加到43.4%。区域,NIPT摄取范围为31.8%至67.9%。2007年至2018年,总摄入量(FCT和NIPT)从14.8%显著增加到45.9%(P<0.0001)。然而,TRIDENT-2两年(2017年4月至2019年3月)的总吸收量稳定在46%。
在引入NIPT后,观察到胎儿非整倍体筛查总摄取增加高达45.9%。在引入一线NIPT后的一年内,摄取似乎已经稳定下来。
The introduction of the non-invasive prenatal test (NIPT) has shifted the prenatal screening landscape. Countries are exploring ways to integrate NIPT in their national prenatal screening programs, either as a first- or second-tier test. This study aimed to describe how the uptake of fetal aneuploidy screening changed after the introduction of NIPT as a second-tier and as a first-tier test within the national prenatal screening program of the Netherlands.
A population-based register study in the Netherlands, recording uptake of fetal aneuploidy screening. Data from all pregnant women choosing to have the first-trimester combined test (FCT) or first-tier NIPT between January 2007 and March 2019 were retrospectively collected using national registration systems. Uptake percentages for fetal aneuploidy screening (FCT and NIPT) were calculated and stratified by region and maternal age. Statistical significance was determined using trend analysis and chi-squared tests.
Between 2007 and 2013 FCT uptake increased from 14.8% to 29.5% (P = .004). In April 2014 NIPT was introduced as a second-tier test for high-risk women after FCT (TRIDENT-1 study). FCT uptake rose from 29.5% in 2013 to 34.2% in 2015 (P < .0001). After the introduction of NIPT as a first-tier test for all women in April 2017 (TRIDENT-2 study), FCT uptake declined significantly from 35.8% in 2016 to 2.6% in 2018 (P < .0001). NIPT uptake increased to 43.4% in 2018. Regionally, NIPT uptake ranged from 31.8% to 67.9%. Total uptake (FCT and NIPT) between 2007 and 2018 increased significantly from 14.8% to 45.9% (P < .0001). However, total uptake stabilized at 46% for both years of TRIDENT-2 (April 2017-March 2019).
An increase in total fetal aneuploidy screening uptake up to 45.9% was observed after the introduction of NIPT. Uptake appears to have stabilized within a year after introducing first-tier NIPT.