期刊
JOURNAL OF COMMUNITY GENETICS
卷 3, 期 3, 页码 193-203出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s12687-011-0071-z
关键词
Carrier screening; Preconception; Pregnancy; Cystic fibrosis; Haemoglobinopathies; Fragile X syndrome; Tay-Sachs disease; Spinal muscular atrophy
资金
- Victorian Government
Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据