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遗传咨询后影响生育决策的因素。

Factors influencing the reproductive decision after genetic counseling.

作者信息

Frets P G, Duivenvoorden H J, Verhage F, Niermeijer M F, van de Berge S M, Galjaard H

机构信息

Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

出版信息

Am J Med Genet. 1990 Apr;35(4):496-502. doi: 10.1002/ajmg.1320350411.

Abstract

Here we report a follow-up study involving interviews with 164 couples 2-3 years after genetic counseling to assess the influence of various factors on their reproductive planning. The results show that the desire to have children and the absence of personal experience with the disorder (no close relative being affected) are important single factors for the decision to opt for having children after genetic counseling. The magnitude of the genetic risk is of relative importance in reproductive planning. Seventy percent of the couples with a high genetic risk (greater than 15%) opted for having children. When the disorder was perceived as severe and the risk was interpreted as high, 72% opted for having children. The availability of prenatal diagnosis became important only in combination with a high genetic risk (greater than 15%). Forty-seven percent of the couples with a high genetic risk refrained from having children when prenatal diagnosis was not available. In the absence of prenatal diagnosis, couples who had an affected child were more cautious about trying again than those who did not--50% versus 14% decided to abstain. This study has provided some insight into the complexity of reproductive decision-making after genetic counseling. The findings may help genetic counselors and clinical geneticists understand and support counselees in their decision-making process, which is "multi-factorial."

摘要

在此,我们报告一项随访研究,该研究涉及在遗传咨询后2至3年对164对夫妇进行访谈,以评估各种因素对其生育计划的影响。结果表明,生育意愿以及没有该疾病的个人经历(没有近亲受影响)是遗传咨询后决定生育的重要单一因素。遗传风险的大小在生育计划中具有相对重要性。70%遗传风险高(大于15%)的夫妇选择生育。当疾病被认为严重且风险被解读为高时,72%的夫妇选择生育。仅在遗传风险高(大于15%)的情况下,产前诊断的可及性才变得重要。当无法进行产前诊断时,47%遗传风险高的夫妇避免生育。在没有产前诊断的情况下,有患病孩子的夫妇比没有患病孩子的夫妇在再次尝试生育时更为谨慎——分别有50%和14%决定 abstain(此处原文有误,根据语境应为“放弃”)。这项研究为遗传咨询后生育决策的复杂性提供了一些见解。这些发现可能有助于遗传咨询师和临床遗传学家理解并支持咨询对象在“多因素”的决策过程。

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