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先天性上肢差异的产前诊断:当前概念综述

Prenatal diagnosis of congenital upper limb differences: a current concept review.

作者信息

Alrabai Hamza M, Farr Alex, Bettelheim Dieter, Weber Myriam, Farr Sebastian

机构信息

a Department of Orthopaedics , King Saud University , Riyadh , Saudi Arabia.

b Department of Obstetrics and Gynaecology , Division of Obstetrics and Feto-Maternal Medicine, Medical University of Vienna , Vienna , Austria , and.

出版信息

J Matern Fetal Neonatal Med. 2017 Nov;30(21):2557-2563. doi: 10.1080/14767058.2016.1256989. Epub 2016 Nov 22.

Abstract

Congenital upper limb differences are frequently associated with complex syndromes. Ultrasonography is considered as the first-line diagnostic modality, and fetal MRI can be useful to further evaluate ill-defined areas. Genetic and non-invasive prenatal testing help to identify the underlying genetic disorder. The diagnostic assessment is a multidisciplinary task that should involve early prenatal consultations with specialists involved in case management and treatment planning. Obstetricians, geneticists, radiologists, psychologists and dedicated surgeons are needed to provide good parental education, prenatal and postnatal care, and successful outcomes. The purpose of this review is to provide an overview of the clinicopathologic background, current diagnostic and imaging procedures in affected fetuses.

摘要

先天性上肢差异常与复杂综合征相关。超声检查被视为一线诊断方法,胎儿磁共振成像有助于进一步评估不明确的区域。基因检测和非侵入性产前检测有助于识别潜在的遗传疾病。诊断评估是一项多学科任务,应尽早进行产前会诊,涉及参与病例管理和治疗规划的专家。需要产科医生、遗传学家、放射科医生、心理学家和专业外科医生来提供良好的家长教育、产前和产后护理以及成功的治疗结果。本综述的目的是概述受影响胎儿的临床病理背景、当前的诊断和成像程序。

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