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西班牙的产前诊断。

Prenatal diagnosis in Spain.

作者信息

Gabarrón J, Ramos C

机构信息

Unidad Técnica de Genética Humana, Centro de Bioquímica y Genética Clinica Conjunto Residencial, Espinardo (Murcia) Spain.

出版信息

Eur J Hum Genet. 1997;5 Suppl 1:64-9.

PMID:9101183
Abstract

An overview of the national organisation of prenatal diagnosis (PND) in Spain is presented. Although PND is technically well developed and the number of prenatal services seems to be adequate, the uneven distribution between regions is reflected in a different prevalence reduction of chromosomal disorders and congenital malformations. Only about 41% or pregnant women use PND, with a wide range (14-64%) between regions. There is no national policy in PND or maternal serum screening for Down's syndrome, but local policies. As clinical genetics is not an officially recognised speciality, there is a shortage of clinical geneticists and it is difficult to organise PND activities and regulate them by law.

摘要

本文介绍了西班牙国家产前诊断(PND)组织的概况。尽管PND在技术上已得到充分发展,产前服务数量似乎也足够,但各地区之间的分布不均反映在染色体疾病和先天性畸形患病率的不同降低程度上。只有约41%的孕妇使用PND,各地区之间差异很大(14 - 64%)。在PND或唐氏综合征的母体血清筛查方面没有国家政策,只有地方政策。由于临床遗传学不是官方认可的专业,临床遗传学家短缺,难以组织PND活动并依法进行监管。

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