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早期妊娠丢失时发现的特定超声特征能否预测胎儿染色体异常?——一项系统评价和荟萃分析。

Do specific ultrasonography features identified at the time of early pregnancy loss predict fetal chromosomal abnormality? - A systematic review and meta-analysis.

作者信息

Huang J, Zhu W, Tang J, Saravelos S H, Poon L C Y, Li T C

机构信息

Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.

出版信息

Genes Dis. 2018 Oct 13;6(2):129-137. doi: 10.1016/j.gendis.2018.10.001. eCollection 2019 Jun.

DOI:10.1016/j.gendis.2018.10.001
PMID:31193979
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6545451/
Abstract

To investigate the association of specific ultrasonography features identified during the diagnosis of early pregnancy loss (EPL) and abnormal karyotype. This was a systematic review and meta-analysis conducted in accordance with PRISMA criteria. We searched PubMed, Cochrane and Ovid MEDLINE from 1977 to Jan 2017 to identify the articles that described EPL with karyotype and ultrasonography features. Risk differences were pooled to estimate the chromosomal abnormality rates in ultrasonography features, including pre-embryonic, enlarged yolk sac (YS), short crown rump length (CRL), small gestational sac (GS), symmetrical arrested growth embryo, or gestational sac with only a YS. Quality assessment of included studies was performed using Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklists for Observational Studies (2007 version). Thirteen studies were included in the meta-analysis. Chromosomal abnormality was more likely to occur in embryonic EPL and enlarged YS. On the other hand, short CRL, small GS, symmetrical arrested growth embryo, or gestational sac with only a YS, were not associated with an increased risk of fetal chromosomal abnormality. Ultrasonography features at the time of diagnosis of EPL have limited predictive value of fetal chromosomal abnormality.

摘要

探讨早期妊娠丢失(EPL)诊断过程中确定的特定超声特征与异常核型之间的关联。这是一项根据PRISMA标准进行的系统评价和荟萃分析。我们检索了1977年至2017年1月期间的PubMed、Cochrane和Ovid MEDLINE,以确定描述EPL伴核型和超声特征的文章。汇总风险差异以估计超声特征中的染色体异常率,这些特征包括胚胎前期、增大的卵黄囊(YS)、短头臀长(CRL)、小妊娠囊(GS)、对称生长停滞胚胎或仅含卵黄囊的妊娠囊。使用《流行病学观察性研究报告强化声明》(STROBE)观察性研究清单(2007年版)对纳入研究进行质量评估。荟萃分析纳入了13项研究。染色体异常更可能发生在胚胎EPL和增大的卵黄囊中。另一方面,短头臀长、小妊娠囊、对称生长停滞胚胎或仅含卵黄囊的妊娠囊与胎儿染色体异常风险增加无关。EPL诊断时的超声特征对胎儿染色体异常的预测价值有限。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6545451/25865b51e412/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6545451/438c2d3a9aab/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6545451/b919240909ca/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6545451/25865b51e412/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6545451/438c2d3a9aab/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6545451/b919240909ca/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bef/6545451/25865b51e412/gr3.jpg

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本文引用的文献

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J Ultrasound Med. 2018 May;37(5):1233-1241. doi: 10.1002/jum.14467. Epub 2017 Nov 1.
2
Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?嵌合型 16 三体:产科及儿童长期预后如何?
Genet Med. 2017 Oct;19(10):1164-1170. doi: 10.1038/gim.2017.23. Epub 2017 Apr 6.
3
Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
产前检测10q22q23重复:表型预测中的困境
Prenat Diagn. 2016 Dec;36(13):1211-1216. doi: 10.1002/pd.4959. Epub 2016 Nov 29.
4
Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion.特发性复发性自然流产的遗传关联研究的系统评价和荟萃分析。
Fertil Steril. 2017 Jan;107(1):150-159.e2. doi: 10.1016/j.fertnstert.2016.10.007. Epub 2016 Nov 11.
5
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6
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