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先天性多发性关节挛缩症胎儿的产前诊断及预后因素——一项系统综述

Prenatal Diagnosis and Prognostic Factors in Fetuses With Arthrogryposis Multiplex Congenita-A Systematic Review.

作者信息

Leao Mario Brock, Brock Marianna Facchinetti, Leao Jorge Roberto Di Tommaso, Grisolia Gianpaolo, Lituania Mario, Neumann Samantha Erin, Tonni Gabriele, Ruano Rodrigo

机构信息

University of South Florida, Tampa, Florida, USA.

University of the Amazon State, Manaus, Brazil.

出版信息

J Clin Ultrasound. 2025 Jun;53(5):1131-1139. doi: 10.1002/jcu.23983. Epub 2025 Mar 28.

Abstract

Arthrogryposis Multiplex Congenita (AMC) is characterized by the presence of multiple joint contractures in the fetus' body. The diagnosis of AMC is complex and often missed prenatally. This comprehensive review of the literature published over the last 20 years, with an emphasis on the role of prenatal ultrasound in predicting postnatal outcomes in a fetus with AMC, showed that ultrasound is a crucial tool to diagnose and prognosticate this rare disease. Different clinical manifestations of AMC are associated with different outcomes. Postnatal prognosis depends on several factors. Future multicenter prospective studies are necessary to investigate the prognostic factors associated with AMC.

摘要

先天性多发性关节挛缩症(AMC)的特征是胎儿身体出现多个关节挛缩。AMC的诊断很复杂,产前常常被漏诊。这篇对过去20年发表的文献的全面综述,重点关注产前超声在预测患有AMC的胎儿产后结局中的作用,表明超声是诊断和预测这种罕见疾病的关键工具。AMC的不同临床表现与不同结局相关。产后预后取决于几个因素。未来有必要开展多中心前瞻性研究来调查与AMC相关的预后因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0737/12172144/52f73e60e265/JCU-53-1131-g002.jpg

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