2010-2018年美国首次建议实施新生儿疾病筛查。

IF 4 Q1 GENETICS & HEREDITY International Journal of Neonatal Screening Pub Date : 2023-04-06 DOI:10.3390/ijns9020020
Sikha Singh, Jelili Ojodu, Alex R Kemper, Wendy K K Lam, Scott D Grosse
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引用次数: 7

摘要

推荐统一筛查小组(RUSP)是美国卫生与公众服务部部长建议纳入州新生儿筛查(NBS)的条件列表。2010-2022年期间,RUSP增加了七种情况:严重联合免疫缺陷(SCID)(2010年)、危重先天性心脏病(CCHD)(2011年)、糖原储存病、II型(Pompe)(2015年)、粘多糖病、I型(MPS I)(2016年)、X连锁肾上腺脑白质营养不良(X-ALD)(2016)、脊髓性肌萎缩(SMA)(2018年)和粘多糖症、II型。所有50个州和三个地区(华盛顿特区、关岛和波多黎各)的方案采用SCID和CCHD新生儿筛查分别耗时8.6年和6.8年。截至2022年12月,Pompe有37个节目,MPS I有34个,X-ALD有32个,SMA有48个。基于每年NBS项目的平均额外数量,SMA的实施速度最快(11.3),其次是CCHD(7.8)、SCID(6.2)、MPS I(5.4)、Pompe(4.9)和X-ALD(4.7)。
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Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.

The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010-2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively. As of December 2022, 37 programs screen for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA. The pace of implementation based on the average additional number of NBS programs per year was most rapid for SMA (11.3), followed by CCHD (7.8), SCID (6.2), MPS I (5.4), Pompe (4.9), and X-ALD (4.7).

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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
期刊最新文献
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