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先天性内脏畸形——围产期尸检在诊断中的作用

Congenital visceral malformations--role of perinatal autopsy in diagnosis.

作者信息

Mohan Harsh, Bhardwaj Shashi, Bal Amanjit

机构信息

Department of Pathology, Government Medical College Hospital, Chandigarh, India.

出版信息

Fetal Diagn Ther. 2004 Mar-Apr;19(2):131-3. doi: 10.1159/000075136.

Abstract

OBJECTIVES

Congenital malformations are one of the leading causes of perinatal deaths and infant mortality. The objective of the present study is to detect visceral malformations in perinatal autopsies.

DESIGN

A retrospective analysis of perinatal autopsies performed between 1998 and 2001 was done. Various visceral malformations were noted and categorized as urologic, cardiac, respiratory, gastrointestinal and miscellaneous.

RESULTS

Out of a total of 62 perinatal autopsies performed, congenital malformations were present in 38.7% of cases. Visceral malformations were observed in 24.1% of cases. Urologic malformations were the commonest (14.1%), followed by cardiac (8%) malformations. Associated external malformations were present in 6/15 cases, cardiac malformations being commonly associated with skeletal malformations.

CONCLUSIONS

In all the cases, internal malformations were not suspected clinically. Thus, autopsy is an invaluable tool for detecting visceral malformations, adding to the clinical diagnosis and providing a feedback to the parents.

摘要

目的

先天性畸形是围产期死亡和婴儿死亡的主要原因之一。本研究的目的是在围产期尸检中检测内脏畸形。

设计

对1998年至2001年间进行的围产期尸检进行回顾性分析。记录各种内脏畸形,并分类为泌尿系统、心脏、呼吸、胃肠道和其他类型。

结果

在总共62例围产期尸检中,38.7%的病例存在先天性畸形。24.1%的病例观察到内脏畸形。泌尿系统畸形最为常见(14.1%),其次是心脏畸形(8%)。15例中有6例伴有外部畸形,心脏畸形常与骨骼畸形相关。

结论

在所有病例中,临床上均未怀疑有内部畸形。因此,尸检是检测内脏畸形的宝贵工具,可补充临床诊断并为家长提供反馈。

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