产前检测心脏肿瘤在结节性硬化症诊断中的作用——两例报告

Role of prenatal detection of cardiac tumours in the diagnosis of tuberous sclerosis--report of two cases.

作者信息

Chitayat D, McGillivray B C, Diamant S, Wittmann B K, Sandor G G

机构信息

University of British Columbia, Clinical Genetics Unit, Grace Hospital, Vancouver, Canada.

出版信息

Prenat Diagn. 1988 Oct;8(8):577-84. doi: 10.1002/pd.1970080805.

DOI:10.1002/pd.1970080805

PMID:3060871

Abstract

Tuberous sclerosis is an autosomal dominant disease with variable expression. Little is known about the intrauterine course of the disease and the fetal age at which specific abnormalities may be detected. The role of prenatal detection of cardiac tumours in the diagnosis of two fetuses at 28 and 32 weeks' gestation based on fetal echocardiography is discussed. The prenatal and postnatal course of the disease is described.

摘要

结节性硬化症是一种具有可变表达的常染色体显性疾病。关于该疾病的宫内病程以及可检测到特定异常的胎儿年龄，人们知之甚少。本文讨论了基于胎儿超声心动图在妊娠28周和32周时对两名胎儿进行心脏肿瘤产前检测在诊断中的作用。还描述了该疾病的产前和产后病程。