Abstract:
A universal newborn screening program for sickle cell disease (uNS-SCD) was implemented in the province of Québec (Qc) in November 2013, close in time to the recommendation of early initiation of hydroxyurea (HU) therapy for children. This retrospective cohort study evaluated the impact of such a program on children first seen between January 2000 and December 2019. Cohorts pre-SCD-uNS in Qc (pre-QcNS) (n = 253) and post-QcNS (n = 157) for patients seen prior to or after Nov 2013 were compared. Kaplan-Meier curves, Poisson regression, and logistic regressions were used for statistical analysis, using Software R version 4.2.1. Median age at first visit decreased significantly from 14.4 [interquartile range: 2.4-72.0] to 1.2 months [1.2-57.6] (p < 0.001). The percentage of children born in Qc undiagnosed at birth and referred after a first SCD-related complication dropped from 42.6% to 0.0% (p < 0.0001). The median age of HU introduction for patients with SS/Sβ°-thalassemia decreased from 56.4 [31.2-96.0] to 9.0 months post-QcNS [8.0-12.1] (p < 0.001). Event-free survival improved significantly for any type of hospitalization as well as for vaso-occlusive crisis (VOC) (140-257 days (p < 0.001) and 1320 vs. 573 days (p < 0.002), respectively), resulting in a reduction from 2 [interquartile range: 1.0-3.0] to 1.0 hospitalizations/patient-year [0.6-1.4] (p < 0.001). Children with SS/Sβ°-thalassemia referred post-QcNS also had fewer emergency department visits for VOC (RR: 0.69, 95% confidence interval: 0.54-0.88). The Universal NS program allows early detection and referral of children with SCD to comprehensive care centers. Earlier access ensures that children benefit from essential preventive interventions, reducing disease burden. This cohort study highlights that uNS-SCD is an essential public health measure.
摘要:
2013年11月,在魁北克省(Qc)实施了一项针对镰状细胞病(uNS-SCD)的通用新生儿筛查计划,该计划与早期开始儿童羟基脲(HU)治疗的建议接近。这项回顾性队列研究评估了这种计划对2000年1月至2019年12月首次出现的儿童的影响。比较了2013年11月之前或之后的患者的Qc(前QcNS)(n=253)和后QcNS(n=157)中SCD-uNS的队列。卡普兰-迈耶曲线,泊松回归,逻辑回归用于统计分析,使用软件R版本4.2.1。首次就诊时的中位年龄从14.4[四分位数间距:2.4-72.0]显着降低到1.2个月[1.2-57.6](p<0.001)。出生时未确诊并在首次SCD相关并发症后转诊的Qc儿童百分比从42.6%降至0.0%(p<0.0001)。SS/Sβ°地中海贫血患者的HU引入年龄中位数从QcNS后的56.4[31.2-96.0]降至9.0个月[8.0-12.1](p<0.001)。任何类型的住院以及血管闭塞性危象(VOC)的无事件生存率显着提高(140-257天(p<0.001)和1320与573天(p<0.002),分别),导致从2[四分位距:1.0-3.0]减少到1.0住院/患者年[0.6-1.4](p<0.001)。在QcNS后转诊的SS/Sβ°-地中海贫血儿童也有较少的VOC急诊就诊(RR:0.69,95%置信区间:0.54-0.88)。通用NS计划允许早期发现SCD儿童并将其转介到综合护理中心。尽早获得服务可确保儿童受益于必要的预防性干预措施,减轻疾病负担。这项队列研究强调uNS-SCD是一项重要的公共卫生措施。