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马蹄内翻足的产前诊断:现有方法综述

Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology.

作者信息

Faldini Cesare, Fenga Domenico, Sanzarello Ilaria, Nanni Matteo, Traina Francesco, Rosa Michele Attilio A

机构信息

Rizzoli Orthopaedic Institute, University of Bologna, Italy

Department of Orthopaedics and Traumatology, Department of Biomedical Sciences and Morphological and Functional Images, University of Messina, Italy

出版信息

Folia Med (Plovdiv). 2017 Sep 1;59(3):247-253. doi: 10.1515/folmed-2017-0030.

DOI:10.1515/folmed-2017-0030
PMID:28976907
Abstract

BACKGROUND

Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot.

METHODS

The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase.

RESULTS

Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded. The full text versions of the remaining 39 articles were obtained, and their reference lists screened, with the addition of another 5 full-text articles.

CONCLUSIONS

Currently, ultrasonography is considered the most reliable method of prenatal diagnosis of clubfoot. Ultrasonographic diagnosis of clubfoot appears more likely between the 18th and the 24th week of pregnancy. Alternative imaging is not indicated. There is no agreement whether to propose foetal karyotyping when isolated clubfoot is diagnosed by prenatal ultrasonography. Early detection of clubfoot should prompt a careful surveillance during pregnancy in order to detect any possible additional abnormalities and, if any of these are detected, invasive testing should be offered.

摘要

背景

马蹄内翻足是最常见的先天性肢体畸形之一。对该病症进行产前诊断至关重要,因为这有助于尽早治疗畸形。我们回顾了近期有关马蹄内翻足产前诊断现有方法的文献。

方法

检索了1966年至2015年的以下数据库:PubMed、OVID、Cochrane、CINAHL、谷歌学术和Embase。

结果

在检索到的197篇文章中,经摘要或标题页评估后,排除了158篇不符合纳入标准的文章。获取了其余39篇文章的全文版本,并筛选了它们的参考文献列表,另外又增加了5篇全文文章。

结论

目前,超声检查被认为是马蹄内翻足产前诊断最可靠的方法。马蹄内翻足的超声诊断在妊娠第18至24周时更有可能实现。不建议采用其他成像方法。对于产前超声诊断为孤立性马蹄内翻足时是否进行胎儿核型分析,尚无共识。马蹄内翻足的早期检测应促使在孕期进行仔细监测,以便发现任何可能的其他异常情况,若检测到任何此类异常,应提供侵入性检测。

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Association of Polymorphism in Locus of rs274503 (/) with the Risk of Idiopathic Clubfoot in Chinese Children: An 11-Center Case-Control Study.rs274503位点多态性与中国儿童特发性马蹄内翻足风险的关联:一项11中心病例对照研究。
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BMC Med Genomics. 2023 Nov 20;16(1):298. doi: 10.1186/s12920-023-01733-2.
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Trends in congenital clubfoot prevalence and co-occurring anomalies during 1994-2021 in Denmark: a nationwide register-based study.丹麦 1994-2021 年先天性马蹄内翻足患病率及共存畸形的变化趋势:一项全国范围内基于登记的研究。
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