Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States.

IF 4 Q1 GENETICS & HEREDITY
Craig M Zaidman, Cameron D Crockett, Ethan Wedge, Grace Tabatabai, Natalie Goedeker
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Abstract

In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA. This is a prospective, descriptive, observational study that seeks to quantify and describe practice patterns and heterogeneities in state NBS programs and provider practices in the U.S. We surveyed U.S. state NBS programs and care providers of newborns with SMA. Thirty states and 41 practitioners responded. NBS program practices vary by state. Most (74%) state programs provide results to both primary care and specialist providers and also defer confirmatory SMA testing to those providers. Two states had relatively high rates of false-positive or inclusive results. The total birth prevalence of SMA was 1:13,862. Most providers were in tertiary care centers (90%) and were child neurologists (81%) and/or had fellowship training in Neuromuscular Medicine or Electromyography (76%). All providers see new referrals in less than a week, but many do not initiate treatment until >3 weeks of age (39%), with most commonly reported delays related to insurance processes. Most (81%) prefer onasemnogene abeparvovec-xioi (OA) as the treatment of choice, mainly due to perceived efficacy and the route/frequency of administration. NBS practice patterns in the U.S. vary by state but overall yielded the predicted birth prevalence of positive results. Providers evaluate these newborns urgently, but many do not initiate therapy until after 3 weeks of age. Treatment delays are mainly related to insurance processes.

新生儿脊髓性肌肉萎缩症筛查:美国脊髓肌肉萎缩症婴儿的实践和早期管理差异》(Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States)。
在美国,新生儿脊髓性肌萎缩症(SMA)筛查(NBS)由各州实施。各州 NBS 项目的实践模式以及护理 SMA 新生儿的医疗人员之间可能存在差异。这是一项前瞻性、描述性、观察性研究,旨在量化和描述美国各州 NBS 项目和医疗机构的实践模式和异质性。有 30 个州和 41 名从业人员参与了调查。各州的 NBS 项目实践各不相同。大多数州(74%)的项目同时向初级保健和专科医生提供结果,并将确诊 SMA 检测推迟到这些医生。有两个州的假阳性或包容性结果率相对较高。SMA 的总出生率为 1:13,862。大多数医疗机构位于三级医疗中心(90%),是儿童神经科医生(81%)和/或接受过神经肌肉医学或肌电图研究培训(76%)。所有医疗机构都能在一周内接诊新的转诊病人,但许多医疗机构要等到病人超过 3 周大时才开始治疗(39%),其中最常报告的延误与保险流程有关。大多数医疗服务提供者(81%)倾向于选择onasemnogene abeparvovec-xioi (OA)作为治疗方法,这主要是考虑到疗效和给药途径/频率。美国各州的新生儿筛查实践模式各不相同,但总体上得出了预测的阳性结果出生率。医疗服务提供者会对这些新生儿进行紧急评估,但许多人直到 3 周大后才开始治疗。治疗延误主要与保险程序有关。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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