Wang Ying, Liu Gang, Caggana Michele, Kennedy Joseph, Zimmerman Regina, Oyeku Suzette O, Werner Ellen M, Grant Althea M, Green Nancy S, Grosse Scott D
1] School of Public Health, University at Albany, State University of New York, Albany, New York, USA [2] Division of Data Management and Research, Office of Primary Care and Health Management System, New York State Department of Health, Albany, New York, USA.
School of Public Health, University at Albany, State University of New York, Albany, New York, USA.
Genet Med. 2015 Jun;17(6):452-9. doi: 10.1038/gim.2014.123. Epub 2014 Sep 25.
Long-term follow-up of newborn screening for conditions such as sickle cell disease can be conducted using linkages to population-based data. We sought to estimate childhood sickle cell disease mortality and risk factors among a statewide birth cohort with sickle cell disease identified through newborn screening.
Children with sickle cell disease identified by newborn screening and born to New York residents in 2000-2008 were matched to birth and death certificates. Mortality rates were calculated (using numbers of deaths and observed person-years at risk) and compared with mortality rates for all New York children by maternal race/ethnicity. Stratified analyses were conducted to examine associations between selected factors and mortality.
Among 1,911 infants with sickle cell disease matched to birth certificates, 21 deaths were identified. All-cause mortality following diagnosis was 3.8 per 1,000 person-years in the first 2 years of life and 1.0 per 1,000 person-years at ages 2-9 years. The mortality rate was significantly lower among children of foreign-born mothers and was significantly higher among preterm infants with low birth weight. The mortality rates were not significantly higher for infants after 28 days with sickle cell disease than for all New York births, but they were 2.7-8.4 times higher for children 1 through 9 years old with homozygous sickle cell disease than for those of all non-Hispanic black or Hispanic children born to New York residents.
Estimated mortality risk in children with homozygous sickle cell disease remains elevated even after adjustment for maternal race/ethnicity. These results provide evidence regarding the current burden of child mortality among children with sickle cell disease despite newborn screening.Genet Med 17 6, 452-459.
可通过与基于人群的数据建立联系，对镰状细胞病等疾病的新生儿筛查进行长期随访。我们试图估计通过新生儿筛查确定的全州出生队列中患有镰状细胞病儿童的死亡率及风险因素。
将2000 - 2008年通过新生儿筛查确定患有镰状细胞病且出生于纽约居民的儿童与出生证明和死亡证明进行匹配。计算死亡率（使用死亡人数和观察到的风险人年数），并按母亲种族/民族与所有纽约儿童的死亡率进行比较。进行分层分析以检验选定因素与死亡率之间的关联。
在1911名与出生证明匹配的患有镰状细胞病的婴儿中，确定有21例死亡。诊断后的全因死亡率在生命的前2年为每1000人年3.8例，在2至9岁时为每1000人年1.0例。外国出生母亲的孩子死亡率显著较低，低出生体重的早产儿死亡率显著较高。患有镰状细胞病的28天以上婴儿的死亡率并不显著高于所有纽约出生婴儿，但1至9岁纯合镰状细胞病儿童的死亡率比纽约居民出生的所有非西班牙裔黑人或西班牙裔儿童高2.7至8.4倍。
即使在对母亲种族/民族进行调整后，纯合镰状细胞病儿童的估计死亡风险仍然较高。这些结果提供了关于尽管进行了新生儿筛查，但镰状细胞病儿童当前儿童死亡负担的证据。《基因医学》17卷6期，452 - 459页
