Bailey Donald B, Berry-Kravis Elizabeth, Gane Louise W, Guarda Sonia, Hagerman Randi, Powell Cynthia M, Tassone Flora, Wheeler Anne
Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina;
Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.
Pediatrics. 2017 Jun;139(Suppl 3):S216-S225. doi: 10.1542/peds.2016-1159H.
Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study.
Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals. FXS newborn screening was offered to >28 000 families to assess public acceptance and determine whether identification of babies resulted in any measurable harms or adverse events. Secondary goals were to determine the prevalence of carrier gene expansions, study the consent process, and describe early development and behavior of identified children.
A number of publications have resulted from the project. This article summarizes 10 "lessons learned" about the consent process, reasons for accepting and declining screening, development and evaluation of a decision aid, prevalence of carriers, father participation in consent, family follow-up, and maternal reactions to screening.
The project documented public acceptance of screening as well as the challenges inherent in obtaining consent in the hospital shortly after birth. Collectively, the study provides answers to a number of questions that now set the stage for a next generation of research to determine the benefits of earlier identification for children and families.
脆性X综合征（FXS）患儿的诊断延迟表明新生儿筛查有可能作为一种更早识别患儿的方法。然而，FXS并没有一种必须早期提供的已证实的治疗方法，并且对于检测携带者婴儿也引发了伦理问题。本文总结了一项多中心、前瞻性、纵向试点筛查研究的主要发现。
北卡罗来纳州、加利福尼亚州和伊利诺伊州的研究人员合作开展了一项研究，在3家妇产医院向家长提供FXS自愿筛查。向超过28000个家庭提供了FXS新生儿筛查，以评估公众接受度，并确定识别婴儿是否会导致任何可衡量的危害或不良事件。次要目标是确定携带者基因扩增的患病率，研究知情同意过程，并描述已识别儿童的早期发育和行为。
该项目产生了许多出版物。本文总结了关于知情同意过程、接受和拒绝筛查的原因、决策辅助工具的开发和评估、携带者患病率、父亲参与知情同意、家庭随访以及母亲对筛查的反应等10条“经验教训”。
该项目记录了公众对筛查的接受程度以及出生后不久在医院获得知情同意所固有的挑战。总体而言，该研究为一些问题提供了答案，这些问题现在为下一代研究奠定了基础，以确定早期识别对儿童和家庭的益处。
