A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.
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DOI：
10.3390/ijns7010020
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发表时间：
2021-03-21
影响因子：
3.5
通讯作者：
Gehtland LM
中科院分区：
文献类型：
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作者：
Kucera KS;Taylor JL;Robles VR;Clinard K;Migliore B;Boyea BL;Okoniewski KC;Duparc M;Rehder CW;Shone SM;Fan Z;Raspa M;Peay HL;Wheeler AC;Powell CM;Bailey DB Jr;Gehtland LM
在美国北卡罗来纳州对脊肌萎缩症(SMA)进行全州新生儿筛查(NBS)之前，我们通过早期检查(EC)研究提供了自愿筛查。在此，我们将介绍2018年10月至2020年12月的EC体验。我们共招募了12,065名新生儿，其中1名新生儿的SMN1基因拷贝数为0，SMN2基因拷贝数为2，这与严重的早发性SMA一致。我们还检测到一个假阳性结果，可能源于一种与白细胞计数低相关的无关血液疾病。我们评估了产前(n=932)和出生后(n=11,133)登记的婴儿的NBS时间以及筛查和报告延迟的原因。虽然产前登记导致结果更快地恢复(中位数为出生后13天)，但出生后登记的婴儿在允许有机会在生命早期接受基本治疗的时间范围内(中位数=出生后21天)仍可获得结果。我们在两个不同的时间点对SMA Q-PCR筛查方法进行了评估，证实了该方法的稳健性。试点项目提供了关于SMA筛查的重要信息，因为预计即将在全州范围内扩大，作为常规国家统计局的一部分。
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December 2020. We enrolled a total of 12,065 newborns and identified one newborn with 0 copies of SMN1 and two copies of SMN2, consistent with severe early onset of SMA. We also detected one false positive result, likely stemming from an unrelated blood disorder associated with a low white blood cell count. We evaluated the timing of NBS for babies enrolled prenatally (n = 932) and postnatally (n = 11,133) and reasons for delays in screening and reporting. Although prenatal enrollment led to faster return of results (median = 13 days after birth), results for babies enrolled postnatally were still available within a timeframe (median = 21 days after birth) that allowed the opportunity to receive essential treatment early in life. We evaluated an SMA q-PCR screening method at two separate time points, confirming the robustness of the assay. The pilot project provided important information about SMA screening in anticipation of forthcoming statewide expansion as part of regular NBS.