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21三体综合征联合筛查试验——它有我们认为的那么有效吗?

Combined screening test for trisomy 21 - is it as efficient as we believe?

作者信息

Wiechec Marcin, Nocun Agnieszka, Knafel Anna, Wiercinska Ewa, Sonek Jiri, Rozmus-Warcholinska Wioletta, Orzechowski Maciej, Stettner Dominika, Plevak Petr

出版信息

J Perinat Med. 2017 Feb 1;45(2):185-191. doi: 10.1515/jpm-2016-0031.

DOI:10.1515/jpm-2016-0031
PMID:27008689
Abstract

OBJECTIVES

To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies.

METHODS

This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. The study population was divided in two groups: combined screening (CS) and ultrasound-based screening (US). Absolute risk was calculated to determine the influence of MA on screening performance.

RESULTS

The CS arm comprised 5145 subjects including 51 cases of trisomy 21 (T21), and the US arm comprised 5733 subjects including 87 subjects with T21. Seven hundred and seventy-five subjects were excluded from the study. For a false positive rate (FPR) of 3%, the detection rate (DR) of T21 in CS arm was 78% vs. 90% in US arm. For 5% FPR, DR was 84% and 94% in CS and US arm, respectively. MA had an influence on DR positive rates in CS: both DR and FPR for T21 increased with advance in MA.

CONCLUSIONS

The US protocol showed higher DR of T21 compared to the CS one. It may be considered as a viable alternative to CS for T21 where access to biochemical testing is limited.

摘要

目的

比较两种孕早期筛查策略:传统联合筛查和仅基于超声标志物的筛查。我们研究了母亲年龄(MA)对这两种策略筛查性能的影响。

方法

这是一项前瞻性观察性研究,基于11653名因孕早期筛查而转诊的未选择的混合风险人群。研究人群分为两组:联合筛查(CS)组和基于超声的筛查(US)组。计算绝对风险以确定MA对筛查性能的影响。

结果

CS组包括5145名受试者,其中21三体(T21)病例51例;US组包括5733名受试者,其中T21患者87例。775名受试者被排除在研究之外。对于3%的假阳性率(FPR),CS组T21的检测率(DR)为78%,而US组为90%。对于5%的FPR,CS组和US组的DR分别为84%和94%。MA对CS组的DR阳性率有影响:T21的DR和FPR均随MA的增加而升高。

结论

与CS方案相比,US方案显示出更高的T21检测率。在生化检测受限的情况下,对于T21筛查,它可被视为CS的一种可行替代方案。

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