Policy considerations in designing a fragile X population screening program.
Policy considerations in designing a fragile X population screening program.
复制标题
DOI：
10.1097/gim.0b013e3181889457
复制
发表时间：
2008-10
期刊：
影响因子：
--
通讯作者：
Acharya K
中科院分区：
文献类型：
--
作者：
Ross LF;Acharya K
扫罗等人1的初步研究的成功再次证实了在新生男性中检测脆性X染色体（FrX）综合征的可行性。2-6这项研究的一个独特之处在于它对同意率的报告。1844名产后妇女中有385名（21%）拒绝接受新生男婴筛查，但原因不明。1与首次引入串联质谱作为试点项目时马萨诸塞州的3%拒绝率和加州的10%拒绝率相比，21%的拒绝率很高。7，8与威尔士新生男性杜氏肌营养不良症筛查的8%拒绝率相比，这也很高。9 FrX筛查与Duchenne肌营养不良症筛查更相似，因为筛查的重点是男婴，早期治疗不能预防长期发病率或死亡率。同意率较低的一个可能解释是，决定要求母亲签署机构审查委员会批准的同意书。在马萨诸塞州，新英格兰新生儿筛查项目在超过55家马萨诸塞州医院的所有分娩单位提供在职培训，提供许多全州范围的教育项目，并重新设计实验室单，以区分同意和不同意的人。7同意是口头的，不是书面的，由临床工作人员获得。在加州，当串联质谱仪作为试点研究提供时，最大的障碍是让医院为婴儿提供筛查。结果发现，只有48%的婴儿接受了筛查。[8]当提供时，90%的母亲同意，10%的母亲拒绝。8同样，同意是口头的，由临床工作人员获得。在威尔士，在医院向父母提供了信息表，但直到助产士在出生后第6天或第7天进行家访时才获得同意。9同样，同意书是口头的，而不是书面的，由临床工作人员获得。9因此，扫罗et al. 1的研究可能有较低的同意率，因为需要书面同意和研究人员参与才能获得同意。
The success of the pilot study by Saul et al. 1 reaffirms the feasibility of Fragile X (FrX) syndrome detection in newborn males. 2–6 One unique aspect of this study is its reporting of the consent rate. Three hundred eighty-five of 1844 (21%) postpartum women refused to have their newborn males screened, although reasons were not ascertained. 1 Twenty-one percent is a high rate of refusal compared with the 3% refusal rate in Massachusetts and 10% refusal in California when tandem mass spectrometry was first introduced as pilot programs. 7, 8 It is also high compared with the 8% refusal rate in Wales for screening newborn males for Duchenne Muscular Dystrophy. 9 FrX screening is more similar to that of Duchenne Muscular Dystrophy screening because of the focus on male infants for a condition in which early treatment has not been shown to prevent long-term morbidity or mortality.One possible explanation for the lower consent rate is that the decision was made to require mothers to sign a consent form approved by an institutional review board. In Massachusetts, the New England Newborn screening program provided in-service training at all birth units in more than 55 Massachusetts hospitals, offered many statewide educational programs, and redesigned laboratory slips to distinguish those who consented from those who did not. 7 The consent was verbal, not written, and was obtained by clinical staff. In California, when tandem mass spectrometry was offered as a pilot study, the biggest obstacle was getting hospitals to offer the screening to infants. It was found that only 48% of infants were offered screening. 8 When offered, 90% of the mothers consented and 10% declined. 8 Again, consent was verbal and obtained by clinical staff. In Wales, parents were given an information sheet in the hospital but consent was not obtained until the midwife home visit at day of life 6 or 7. 9 Again the consent was verbal not written and was obtained by clinical staff. 9 Thus, the study by Saul et al. 1 may have had a lower consent rate because of the requirement for written consent and the participation of research personnel to obtain the consent.