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[过去20年在遗传咨询服务中心登记的疾病病例,基于其病因]

[Cases of diseases registered with the Genetic Counseling Service during the past 20 years, in the light of their etiology].

作者信息

Lörincz P, Tímár L, Czeizel E

机构信息

Johan Béla Országos Közegészségügyi Intézet, Humángenetikai és Teratológiai Osztály, WHO, Együttmüködési Központ, Budapest.

出版信息

Orv Hetil. 1995 Oct 29;136(44):2385-8.

PMID:7478482
Abstract

The authors analyse the experiences of their Genetic Counseling Clinic between 1979-1992. They show the formation of the motives of presenting and consulting. They range the consultants in three etiological categories (genetical, teratological and clinical entities). The proportion of new consultants increased fourfold and this tendency documents unambiguously the claim of family planners for this very important medical service. The proportion of Mendelian disorders, mutagen risk and consanguinity are relatively continuous. Because of teratogen risk the rate of presenting decreased moderately. The proportion of consultants shows a definite increase of multifactorial frequent disorders, which they value as a favorable tendency. For decreasing of unjustified cases they suggest the necessity of pre-screening.

摘要

作者分析了他们的遗传咨询诊所在1979年至1992年间的经历。他们展示了前来咨询的动机的形成。他们将咨询者分为三类病因类别(遗传学、致畸学和临床实体)。新咨询者的比例增加了四倍,这一趋势明确证明了计划生育者对这项非常重要的医疗服务的需求。孟德尔疾病、诱变风险和近亲结婚的比例相对稳定。由于致畸风险,前来咨询的比例适度下降。咨询者的比例显示多因素常见疾病有明显增加,他们认为这是一个有利趋势。为了减少不合理的病例,他们建议进行预筛查。

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