Newborn screening for fragile X syndrome

被引:49
作者
Bailey, DB [1 ]
机构
[1] Univ N Carolina, Frank Porter Graham Child Dev Ctr, Chapel Hill, NC 27599 USA
来源
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS | 2004年 / 10卷 / 01期
关键词
newborn screening; genetic testing; fragile X; diagnosis;
D O I
10.1002/mrdd.20002
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Newborn screening for fragile X syndrome (FXS) is technically possible, and in the relatively near future accurate and inexpensive screening technologies are likely to be available. When that happens, will America's public health system adopt newborn screening for fragile X syndrome? This article addresses this issue by first placing screening for FXS in the context of the history and current status of newborn screening policy and practice. Lack of a proven medical treatment may stand as a barrier to newborn screening, but strong arguments can be made that early intervention provides important services for identified newborns and their families. Furthermore, other arguments could be used to justify newborn screening, including informed reproductive risk, medically necessary information, and consumer demand. Fragile X syndrome is offered as a prototype for many of the issues that will face society as more genetic disorders are discovered and new technologies for screening are developed. (C) 2004 Wiley-Liss, Inc.
引用
收藏
页码:3 / 10
页数:8
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