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发展中国家的胎儿唐氏综合征筛查模型;第一部分:母体血清筛查的性能。

Fetal Down syndrome screening models for developing countries; Part I: Performance of Maternal Serum Screening.

机构信息

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.

出版信息

BMC Health Serv Res. 2019 Nov 27;19(1):897. doi: 10.1186/s12913-019-4446-x.

Abstract

BACKGROUND

To identify the performance of fetal Down syndrome (DS) screening for developing countries.

METHODS

A prospective study on MSS (maternal serum screening) with complete follow-ups (n = 41,924) was conducted in 32 network hospitals in the northern part of Thailand. Various models of MSS were tested for performance.

RESULTS

MSS based on Caucasian reference range resulted in very high false positive rate (FPR; 13%) in our country, compared to the rate of 7.8% with our own (Thai) reference range, whereas the detection rate was comparable. As individual screening, C-S (contingent first trimester screening including PAPP-A, and free beta-hCG, classified as a) high risk [> 1:30], indicated for invasive diagnosis; b) intermediate risk [1:30-1500], indicated for STS; and c) low risk [< 1:1500], need no further tests.) was the most effective model (sensitivity 84.9%, FPR 7.7%) but nearly one-third needed the second trimester test (STS) because of intermediate results. Additionally, about one-third had their first visits in the second trimester and had no chance of FTS (first trimester screening). C-S plus STS had a sensitivity of 82.4% and FPR 8.1% whereas independent first and second trimester screening model (I-S) gave the sensitivity of 78.4% and FPR of 7.5% but was much more convenient and practical.

CONCLUSION

C-S plus STS was the most effective models while I-S model was also effective and may be better for developing countries because of its simplicity and feasibility.

摘要

背景

旨在确定胎儿唐氏综合征(DS)筛查在发展中国家的表现。

方法

在泰国北部的 32 家网络医院进行了一项前瞻性的 MSS(母体血清筛查)研究,对其进行了完整的随访(n=41924)。测试了各种 MSS 模型的性能。

结果

基于白种人参考范围的 MSS 在我国产生了非常高的假阳性率(FPR;13%),而使用我们自己(泰国)的参考范围时,该比率为 7.8%,但检测率相当。作为个体筛查,C-S(包括妊娠相关血浆蛋白 A 和游离β-hCG 的 contingent 早期筛查,分为 a)高风险[>1:30],需要进行侵入性诊断;b)中风险[1:30-1500],需要进行 STS;c)低风险[<1:1500],无需进一步检测。)是最有效的模型(敏感性 84.9%,FPR 7.7%),但近三分之一的患者需要进行中孕期检测(STS),因为结果为中风险。此外,大约三分之一的患者在中孕期首次就诊,没有机会进行 FTS(早孕期筛查)。C-S 加 STS 的敏感性为 82.4%,FPR 为 8.1%,而独立的早孕期和中孕期筛查模型(I-S)的敏感性为 78.4%,FPR 为 7.5%,但更方便和实用。

结论

C-S 加 STS 是最有效的模型,而 I-S 模型也很有效,对于发展中国家可能更好,因为其简单性和可行性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d620/6880541/73e389f73aed/12913_2019_4446_Fig1_HTML.jpg

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