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孕早期和孕中期唐氏综合征筛查:基于荟萃分析的综合评价

First and Second-Trimester Screening, for Down's Syndrome: An Umbrella Review on Meta-Analyses.

作者信息

Goudarzi Zahra, Jafari Mojtaba, Shirvani Zahra, Salesi Mahmood, Keshavarz Khosro, Jahromi Bahya Namvar

机构信息

Health Human Resources Research Center, Department of Health Economics, School of Health Management and Information Sciences Shiraz University of Medical Sciences Shiraz Iran.

Gynecology Oncology Division, Department of Obstetrics and Gynecology, School of Medicine Shiraz University of Medical Science Shiraz Iran.

出版信息

Health Sci Rep. 2025 Jul 21;8(7):e70910. doi: 10.1002/hsr2.70910. eCollection 2025 Jul.

DOI:10.1002/hsr2.70910
PMID:40692565
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12277661/
Abstract

BACKGROUND AND AIM

Despite the variety of screening tests, the number of babies born with Down's syndrome (DS) has not significantly decreased. The aim of this study was systematically review previously published meta-analysis studies to identify the most efficient screening tests for DS during only the first trimester (FT) and only in the second trimester (ST) of pregnancy.

METHODS

The data sources, including Scopus, Cochrane Library, and PubMed, were reviewed. The effectiveness of tests was investigated and compared by extracting their sensitivity and specificity values from meta-analyses. The heterogeneity of data was investigated by and tests. In addition, publication bias was assessed through Egger's and Begg's tests.

RESULTS

This study investigated 14 eligible and high-quality meta-analyses. Meta-analysis of 13 studies revealed FT and ST as the best stage for conducting serum tests, with a sensitivity of 0.824 (CI: 0.790-0.857) and specificity of 0.956 (CI: 0.947-0.965). Likewise, FT and ST were found as the best stage for conducting ultrasound tests, with a sensitivity of 0.882 (CI: 0.850-0.914) and a specificity of 0.95 (CI: 0.944-0.956). In addition, ST was determined as the best stage for carrying out ultrasound (US) and serum screening (SS) tests, with a sensitivity of 0.93 and a specificity of 0.93, indicating the highest sensitivity and specificity of US + SS tests in the ST than FT and FT & ST stages.

CONCLUSION

The first and second trimesters (FT and ST) is the best stage for carrying out ultrasound and serum screening tests. ST was found to be the best stage for conducting US + SS in DS screening tests. US + SS tests achieved the best results for DS screening during the FT and ST of pregnancy.

摘要

背景与目的

尽管有多种筛查测试,但唐氏综合征(DS)患儿的出生数量并未显著减少。本研究的目的是系统回顾先前发表的荟萃分析研究,以确定仅在妊娠早期(FT)和仅在妊娠中期(ST)对DS最有效的筛查测试。

方法

对包括Scopus、Cochrane图书馆和PubMed在内的数据来源进行了回顾。通过从荟萃分析中提取测试的敏感性和特异性值来研究和比较测试的有效性。通过 和 检验研究数据的异质性。此外,通过Egger检验和Begg检验评估发表偏倚。

结果

本研究调查了14项合格的高质量荟萃分析。对13项研究的荟萃分析显示,FT和ST是进行血清测试的最佳阶段,敏感性为0.824(CI:0.790 - 0.857),特异性为0.956(CI:0.947 - 0.965)。同样,FT和ST被发现是进行超声测试的最佳阶段,敏感性为0.882(CI:0.850 - 0.914),特异性为0.95(CI:0.944 - 0.956)。此外,ST被确定为进行超声(US)和血清筛查(SS)测试的最佳阶段,敏感性为0.93,特异性为0.93,表明US + SS测试在ST阶段比FT和FT & ST阶段具有最高的敏感性和特异性。

结论

妊娠早期和中期(FT和ST)是进行超声和血清筛查测试的最佳阶段。在DS筛查测试中,ST被发现是进行US + SS的最佳阶段。在妊娠FT和ST期间,US + SS测试在DS筛查中取得了最佳结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b6/12277661/6d233f13c89e/HSR2-8-e70910-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b6/12277661/eed0d9842821/HSR2-8-e70910-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b6/12277661/0255e735b5d6/HSR2-8-e70910-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b6/12277661/6d233f13c89e/HSR2-8-e70910-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b6/12277661/eed0d9842821/HSR2-8-e70910-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b6/12277661/0255e735b5d6/HSR2-8-e70910-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b6/12277661/6d233f13c89e/HSR2-8-e70910-g002.jpg

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本文引用的文献

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Correction: The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis.更正:唐氏综合征无创产前检测(NIPT)在产前筛查项目中的实施与影响:一项系统评价和荟萃分析。
PLoS One. 2025 Feb 4;20(2):e0318985. doi: 10.1371/journal.pone.0318985. eCollection 2025.
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Antenatal screening for chromosomal abnormalities.产前筛查染色体异常。
Arch Gynecol Obstet. 2022 Apr;305(4):825-835. doi: 10.1007/s00404-022-06477-5. Epub 2022 Mar 13.
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Cognitive Function during the Prodromal Stage of Alzheimer's Disease in Down Syndrome: Comparing Models.
唐氏综合征患者阿尔茨海默病前驱期的认知功能:模型比较
Brain Sci. 2021 Sep 16;11(9):1220. doi: 10.3390/brainsci11091220.
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Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020.美国唐氏综合征和神经管缺陷的产前血清筛查:2012 年至 2020 年利用模式的变化。
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Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance.唐氏综合征退行性障碍:一种日益重要的临床退行综合征。
Pediatrics. 2020 Jun;145(6). doi: 10.1542/peds.2019-2939.
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Missed Down Syndrome Cases after First Trimester False-Negative Screening-Lessons to be Learned.唐氏综合征病例在孕早期筛查假阴性后漏诊——应吸取的教训。
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Multiorgan involvement and management in children with Down syndrome.唐氏综合征患儿的多器官受累及管理
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