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[遗传因素对围产期病理学及婴儿死亡率的影响]

[The contribution of genetic factors to perinatal pathology and infant mortality].

作者信息

Bochkov N P, Laziuk G I

出版信息

Vestn Akad Med Nauk SSSR. 1991(5):11-3.

PMID:1866993
Abstract

The authors consider the contribution made by genetic factors to perinatal and infant mortality on the basis of many-year studies performed in the Minsk Teratology Center and analysis of the data available in the literature. In 1972-1984 there was an increase in the incidence of congenital malformations among deceased children. Genetic factors predispose to at least 7-8% postimplantation embryonal and fetal elimination. Perinatal and neonatal mortality is caused by congenital malformations in 19.1 and 37% of cases, respectively. A genetic analysis has indicated that 23.2% of them are induced by genic, chromosomal, and genomic mutations and 51.0% are caused multifactorially. The prevention of genetically determined perinatal mortality is most effective in implementing the screening programs for detection of heterozygous carriage along with subsequent prospective examination and prenatal diagnosis.

摘要

作者基于明斯克畸形学中心开展的多年研究以及对文献中现有数据的分析,探讨了遗传因素对围产期和婴儿死亡率的影响。1972年至1984年期间,死亡儿童中先天性畸形的发病率有所上升。遗传因素至少导致7-8%的植入后胚胎和胎儿死亡。围产期和新生儿死亡率分别有19.1%和37%是由先天性畸形引起的。遗传分析表明,其中23.2%是由基因、染色体和基因组突变诱发的,51.0%是由多因素导致的。预防由遗传因素决定的围产期死亡率,最有效的方法是实施筛查计划,以检测杂合子携带者,随后进行前瞻性检查和产前诊断。

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