Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021

被引：30
作者：
Hale, Kshea [1 ]
Ojodu, Jelili [1 ]
Singh, Sikha [1 ]
机构：
[1] Assoc Publ Hlth Labs, Silver Spring, MD 20910 USA
来源：
INTERNATIONAL JOURNAL OF NEONATAL SCREENING | 2021年 / 7卷 / 03期
关键词：
newborn screening; spinal muscular atrophy; new disorders implementation;
D O I：
10.3390/ijns7030033
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status.
引用
收藏
页数：10
相关论文
共 16 条
  • [1] Association of Public Health Laboratories, NEWSTEPS NEWB SCREEN
  • [2] Association of Public Health Laboratories, NEWSTEPS NEW DIS REA
  • [3] CureSMA, SMA OV
  • [4] CureSMA, SMA GEN
  • [5] Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives
    Dangouloff, Tamara
    Servais, Laurent
    [J]. THERAPEUTICS AND CLINICAL RISK MANAGEMENT, 2019, 15 : 1153 - 1161
  • [6] Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
    Hale, Jaime E.
    Darras, Basil T.
    Swoboda, Kathryn J.
    Estrella, Elicia
    Chen, Jin Yun Helen
    Abbott, Mary-Alice
    Hay, Beverly N.
    Kumar, Binod
    Counihan, Anne M.
    Gerstel-Thompson, Jacalyn
    Sahai, Inderneel
    Eaton, Roger B.
    Comeau, Anne Marie
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2021, 7 (02)
  • [7] Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation
    Hale, Kshea
    Kellar-Guenther, Yvonne
    McKasson, Sarah
    Singh, Sikha
    Ojodu, Jelili
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (02)
  • [8] Health Resources & Services Administration, ADV COMM HER DIS NEW
  • [9] Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
    Kay, Denise M.
    Stevens, Colleen F.
    Parker, April
    Saavedra-Matiz, Carlos A.
    Sack, Virginia
    Chung, Wendy K.
    Chiriboga, Claudia A.
    Engelstad, Kristin
    Laureta, Emma
    Farooq, Osman
    Ciafaloni, Emma
    Lee, Bo Hoon
    Malek, Sohail
    Treidler, Simona
    Anziska, Yaacov
    Delfiner, Leslie
    Sakonju, Ai
    Caggana, Michele
    [J]. GENETICS IN MEDICINE, 2020, 22 (08) : 1296 - 1302
  • [10] Kemper A.R., NEWBORN SCREENING SP
12