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镰状细胞病产前诊断的意义

Implications of prenatal diagnosis of sickle cell disease.

作者信息

de Montalembert M, Guilloud-Bataille M, Ducros A, Galacteros F, Girot R, Herve C, Maier-Redelsperger M, Feingold J

机构信息

Centre de Transfusion Sanguine, Hôpital Necker, Paris, France.

出版信息

Genet Couns. 1996;7(1):9-15.

PMID:8652095
Abstract

Prenatal diagnosis (PND) of sickle cell disease (SCD) has been feasible since about 15 years. The number of PND performed for SCD has constantly increased during these years, but its availability raises difficult ethical questions for parents and counsellors. Concerning at-risk parents, only 50% (data in the literature) to 70% (personal data) ask for PND. Our study shows that mainly cultural reasons, then religious ones, educational level and the number of children in the family weigh on the parents' decision to request this diagnosis. The counsellors' position is difficult since clinical severity of the disease is highly variable, there is no early prognostic factor, and the median life expectancy of patients in industrialized countries exceeds 40 years. We need to define a counselling which would consider the image of the illness in the populations involved, in order to help parents understand the implications of the choice they are asked to make.

摘要

大约15年来,镰状细胞病(SCD)的产前诊断(PND)一直是可行的。这些年来,针对SCD进行的PND数量不断增加,但其可及性给父母和咨询顾问带来了棘手的伦理问题。对于有风险的父母,只有50%(文献数据)至70%(个人数据)会要求进行PND。我们的研究表明,主要是文化原因,其次是宗教原因、教育水平和家庭子女数量影响着父母要求进行这种诊断的决定。咨询顾问的立场很困难,因为该疾病的临床严重程度差异很大,没有早期预后因素,而且工业化国家患者的中位预期寿命超过40岁。我们需要定义一种咨询方式,该方式会考虑相关人群对疾病的认知,以帮助父母理解他们被要求做出的选择所带来的影响。

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