Fragile X screening: attitudes of genetic health professionals.
Fragile X screening: attitudes of genetic health professionals.
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DOI：
10.1002/ajmg.a.32725
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发表时间：
2009-02-15
影响因子：
2
通讯作者：
Ross, Lainie Friedman
中科院分区：
文献类型：
--
作者：
Acharya, Kruti;Ross, Lainie Friedman
虽然遗传健康专业人员（GHP）是制定和实施脆性X（FrX）检测和筛查指南的主要利益相关者，但他们对FrX检测和人群筛查的态度在文献中几乎不存在。对遗传学家（geneticists）和遗传咨询师（GC）进行了调查。该调查涉及GHP对以下问题的态度：（1）产前FrX携带者筛查;（2）男性和女性新生儿的突变前和完全突变筛查;（3）一生中FrX筛查的最佳时间;以及（4）他们是否愿意对具有阳性家族史的正常发育儿童进行检测。30%（273/894）的合格GHP完成了调查。遗传学家和GC的态度大多难以区分。最受欢迎的筛查方法是（1）针对有阳性家族史的女性的孕前筛查（43%）;（2）普遍孕前筛查（29%）。虽然只有6%和11%的人分别宣布普遍产前筛查和普遍新生儿筛查（NBS）是理想的时间，但分别有73%和60%的人支持这些计划。GHP将设计一个NBS项目来测试男性和女性婴儿，并识别前突变和完全突变。超过一半的人同意对一些有阳性家族史的正常发育的儿童进行FrX测试。在将FrX检测和筛查扩展到低风险个体时，GHP更倾向于将孕前筛查作为单一的最佳时间。大多数人还支持产前筛查和NBS。如果要引入NBS，GHP更倾向于筛查，以确定男孩和女孩的前和完全突变。
Although Genetic health professionals (GHP) are major stakeholders in developing and implementing Fragile X (FrX) testing and screening guidelines, their attitudes about FrX testing and population screening are virtually absent in the literature. A survey was conducted of physician geneticists (geneticists) and genetic counselors (GC). The survey addressed GHP’s attitudes towards (1) prenatal FrX carrier screening; (2) pre- and full mutation screening of male and female newborns; (3) the single best time for FrX screening over the lifespan; and (4) their willingness to test a normally developing child with a positive family history. Thirty percent (273/894) of eligible GHP completed surveys. Attitudes of geneticists and GC were mostly indistinguishable. The single most favored screening approaches were (1) preconception screening targeted at women with a positive family history (43%); and (2) universal preconception screening (29%). While only 6% and 11% declared universal prenatal and universal newborn screening (NBS) as the ideal time respectively, 73% and 60% respectively would support such programs. GHP would design a NBS program to test male and female infants and to identify both pre- and full mutations. Over half would agree to order FrX testing on some normally developing children with a positive family history. In expanding FrX testing and screening to low risk individuals, GHP prefer preconception screening as the single best time. The majority also support prenatal screening and NBS. If NBS were to be introduced, GHP prefer screening to identify boys and girls with both pre- and full mutations.
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影响因子：
8
作者：
Acharya, K;Ackerman, PD;Ross, LF
通讯作者：
Ross, LF
DOI：
10.1006/bmme.1995.1057
发表时间：
1995-10-01
期刊：
BIOCHEMICAL AND MOLECULAR MEDICINE
影响因子：
--
作者：
DAWSON, AJ;CHODIRKER, BN;CHUDLEY, AE
通讯作者：
CHUDLEY, AE
影响因子：
8.8
作者：
Cronister, A;DiMaio, M;Hallam, S
通讯作者：
Hallam, S
影响因子：
8.8
作者：
Fanos, JH;Spangner, KA;Musci, TJ
通讯作者：
Musci, TJ
影响因子：
4
作者：
CLARKE, A
通讯作者：
CLARKE, A