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胎儿心脏异常:需要考虑的遗传病因。

Fetal cardiac abnormalities: Genetic etiologies to be considered.

机构信息

Sección Genética Departamento de Ginecología y Obstetricia, CEMIC Instituto Universitario, Buenos Aires, Argentina.

Harvard Medical School Department of Obstetrics, Gynecology and Reproductive Medicine Division Chief Maternal Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Boston, MA.

出版信息

Prenat Diagn. 2019 Aug;39(9):758-780. doi: 10.1002/pd.5480. Epub 2019 Jul 29.

Abstract

Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

摘要

先天性心脏病是一种常见的产前发现。相关遗传综合征或主要心脏外畸形的产前诊断有助于了解病因发病诊断。此外,它还评估了预后、管理和家族复发风险,同时强烈影响了父母选择终止妊娠或产后护理的决定。本文综述了与先天性心脏病产前发现相关的最常见遗传诊断,并提出了一种建议的诊断流程。

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