脆性X综合征筛查：家长的态度和观点
Screening for Fragile X Syndrome: parent attitudes and perspectives.
作者信息
Skinner Debra, Sparkman Karen L, Bailey Donald B
机构信息
FPG Child Development Institute, University of North Carolina at Chapel Hill, 27599-8180, USA.
出版信息
Genet Med. 2003 Sep-Oct;5(5):378-84. doi: 10.1097/01.gim.0000086480.69309.1e.
PURPOSE
This study examined the attitudes and beliefs of 442 parents of children with fragile X syndrome (FXS) regarding different screening options for FXS.
METHODS
A survey was administered to parents of children with FXS across the U.S.
RESULTS
Parents indicated their support for voluntary screening for FXS, especially carrier and newborn screening. They also thought advantages of widespread screening to be more likely than disadvantages.
CONCLUSION
Parents' support for FXS screening is at odds with current screening criteria, but as new genetic knowledge and technologies reconfigure these criteria, it will be important to take parents' perspectives into account.
目的
本研究调查了442名脆性X综合征（FXS）患儿家长对FXS不同筛查选项的态度和看法。
方法
对美国各地FXS患儿的家长进行了一项调查。
结果
家长们表示支持自愿进行FXS筛查，尤其是携带者筛查和新生儿筛查。他们还认为广泛筛查的优点比缺点更有可能出现。
结论
家长对FXS筛查的支持与当前的筛查标准不一致，但随着新的遗传学知识和技术重新设定这些标准，考虑家长的观点将很重要。
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