Department of Epidemiology, Biostatistics, and Occupational Health, McGill University, Montreal, Quebec, Canada.
Institut national de santé publique du Québec, Montreal, Quebec, Canada.
JAMA Netw Open. 2022 Apr 1;5(4):e226739. doi: 10.1001/jamanetworkopen.2022.6739.
Causes of death in children with birth defects are poorly understood.
To determine mortality rates by cause of death in children with and without birth defects.
DESIGN, SETTING, AND PARTICIPANTS: This longitudinal cohort study included a population-based sample of 1 037 688 children and was conducted in all hospitals in Quebec, Canada, with 7 700 596 person-years of follow-up between birth and age 14 years (April 1, 2006, to March 31, 2020).
Presence or absence of a birth defect.
Outcomes were all-cause and cause-specific mortality. Hazard ratios (HRs) and 95% CIs were computed for the association between birth defects and mortality with Cox proportional hazards models adjusted for patient characteristics.
Among the 1 037 688 children in the cohort, 95 566 had birth defects (56.5% boys). There were 532 542 boys in the cohort (51.3%), and mean (SD) age at the end of follow-up was 7.42 (3.72) years. There were 918 deaths among children with defects, and the mean (SD) age was 0.93 (2.07) years at death; there were 1082 deaths among the 942 122 children without defects, and the mean (SD) age at death was 0.50 (1.51) years. Mortality rates were higher for children with birth defects compared with no defect (1.3 vs 0.2 deaths per 1000 person-years, respectively). Girls (HR, 5.66; 95% CI, 4.96-6.47) and boys (HR, 4.69; 95% CI, 4.15-5.29) with birth defects had an elevated risk of death before 14 years compared with unaffected children. Birth defects were associated with mortality from circulatory (HR, 26.59; 95% CI, 17.73-39.87), respiratory (HR, 23.03; 95% CI, 15.09-35.14), and digestive causes (HR, 31.77; 95% CI, 11.87-85.04), but anomalies were rarely listed as the cause of death. Compared with children with no defect, those with birth defects were at greatest risk of death between 28 and 364 days of life.
This cohort study of 1 037 688 children suggests that birth defects were strongly associated with mortality owing to circulatory, respiratory, and digestive causes. This finding suggests that the contribution of birth defects may be underestimated in mortality statistics.
儿童出生缺陷的死因知之甚少。
确定有和没有出生缺陷的儿童的死因死亡率。
设计、地点和参与者：这是一项基于人群的队列研究，纳入了魁北克省所有医院的 1037688 名儿童，在出生至 14 岁期间进行了 7700596 人年的随访（2006 年 4 月 1 日至 2020 年 3 月 31 日）。
存在或不存在出生缺陷。
结局为全因死亡率和死因特异性死亡率。使用 Cox 比例风险模型计算出生缺陷与死亡率之间的关联，并对患者特征进行调整。
在队列中的 1037688 名儿童中，有 95566 名（56.5%为男孩）有出生缺陷。队列中有 532542 名男孩（51.3%），随访结束时的平均（SD）年龄为 7.42（3.72）岁。有缺陷的儿童中有 918 人死亡，死亡时的平均（SD）年龄为 0.93（2.07）岁；942122 名无缺陷儿童中有 1082 人死亡，死亡时的平均（SD）年龄为 0.50（1.51）岁。有出生缺陷的儿童死亡率高于无缺陷的儿童（分别为每 1000 人年 1.3 例和 0.2 例死亡）。与未受影响的儿童相比，患有出生缺陷的女孩（HR，5.66；95%CI，4.96-6.47）和男孩（HR，4.69；95%CI，4.15-5.29）在 14 岁之前死亡的风险更高。出生缺陷与循环系统（HR，26.59；95%CI，17.73-39.87）、呼吸系统（HR，23.03；95%CI，15.09-35.14）和消化系统（HR，31.77；95%CI，11.87-85.04）的死亡原因有关，但出生缺陷很少被列为死因。与无缺陷的儿童相比，那些有出生缺陷的儿童在出生后 28 至 364 天内死亡的风险最大。
这项针对 1037688 名儿童的队列研究表明，出生缺陷与循环系统、呼吸系统和消化系统疾病导致的死亡有很强的相关性。这一发现表明，在死亡率统计中，出生缺陷的贡献可能被低估了。
