Bjerregaard Louise, Stenbakken Anne Betsagoo, Andersen Camilla Skov, Kristensen Line, Jensen Cecilie Vibeke, Skovbo Peter, Sørensen Anne Nødgaard
Dan Med J. 2017 Apr;64(4).
The non-invasive prenatal test (NIPT) was introduced in the North Denmark Region in March 2013. NIPT is offered as an alternative to invasive tests if the combined first trimester risk of trisomy 21 (T21) is ≥ 1:300. The purpose of this study was to investigate the effect of NIPT implementation among high-risk pregnancies in a region with existing first-trimester combined screening for T21. The primary objective was to examine the effect on the invasive testing rate.
This was a retrospective observational study including high-risk singleton pregnancies in the North Denmark Region. The women were included in two periods, i.e. before and after the implementation of NIPT, respectively. Group 1 (before NIPT): n = 253 and Group 2 (after NIPT): n = 302.
After NIPT implementation, the invasive testing rate fell from 70% to 48% (p < 0.01), and the number of high-risk women refusing further testing dropped from 26% to 3% (p < 0.01). NIPT successfully detected four cases of T21; however, two out of three sex-chromosomal abnormalities were false positives. No false negative NIPT results were revealed in this study.
In the North Denmark Region, the implementation of NIPT in high-risk pregnancies significantly reduced the rate of invasive testing. However, the proportion of high-risk women who opted for prenatal tests increased as the majority of women who previously refused further testing now opted for the NIPT.
none.
The study was approved by the Danish Data Protection Agency (No. 2015-104).
2013年3月，无创产前检测（NIPT）在丹麦北部地区推出。如果孕早期21三体（T21）综合风险≥1:300，NIPT可作为侵入性检测的替代方法。本研究的目的是调查在一个已开展孕早期T21联合筛查的地区，实施NIPT对高危妊娠的影响。主要目的是检验对侵入性检测率的影响。
这是一项回顾性观察研究，纳入丹麦北部地区的高危单胎妊娠。这些女性分两个时期纳入，即分别在NIPT实施之前和之后。第1组（NIPT实施前）：n = 253；第2组（NIPT实施后）：n = 302。
实施NIPT后，侵入性检测率从70%降至48%（p < 0.01），拒绝进一步检测的高危女性数量从26%降至3%（p < 0.01）。NIPT成功检测出4例T21；然而，3例性染色体异常中有2例假阳性。本研究未发现NIPT假阴性结果。
在丹麦北部地区，高危妊娠中实施NIPT显著降低了侵入性检测率。然而，选择产前检测的高危女性比例增加，因为大多数之前拒绝进一步检测的女性现在选择了NIPT。
无。
本研究获丹麦数据保护局批准（编号2015 - 104）。
