University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Birth Defects Res. 2017 Aug 15;109(14):1154-1165. doi: 10.1002/bdr2.1057. Epub 2017 Jun 19.
A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy.
Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies. Multivariable logistic regression was used to estimate the direct effect of each concomitant BD, after adjusting for all others.
A total of 496 infants with TOF were included, and 15% (n = 76) died. The number of concomitant BD systems was significantly associated with the risk of death at 1-year, p < 0.0001. Specifically, the risk of mortality was 8% among infants with TOF with or without additional cardiac defects, 16% among infants with TOF and 1 extracardiac BD system, 19% among infants with 2 extracardiac BD systems, and 39% among infants with ≥ 3 extracardiac BD systems. After adjustment, concomitant eye and gastrointestinal defects were significantly associated increased with 1-year mortality, odds ratio 2.83 (95% confidence interval, 1.08-7.32) and odds ratio 4.43 (95% confidence interval, 1.57, 12.45), respectively. Infants with trisomy 13 or trisomy 18 were also significantly more likely to die, p < 0.0001.
Both concomitant BDs and genetic anomalies increase the risk of mortality among infants with TOF. Future studies are needed to identify the underlying genetic and socioeconomic risk factors for high-risk TOF infants. Birth Defects Research 109:1154-1165, 2017. © 2017 Wiley Periodicals, Inc.
相当一部分患有法洛四联症（TOF）的婴儿在婴儿期死亡。更好地了解与 TOF 相关的异质性，包括心脏外畸形和染色体异常，对于在婴儿期分层风险和优化结局至关重要。
利用北卡罗来纳州出生缺陷监测计划，纳入 2003 年至 2012 年间诊断为 TOF 并出生的婴儿。使用 Kaplan-Meier 生存曲线估计 1 年累积死亡率，按是否伴有伴发先天性畸形（BD）和染色体异常进行分层。使用多变量逻辑回归，在调整所有其他因素后，估计每个伴发 BD 的直接效应。
共纳入 496 例 TOF 婴儿，15%（n=76）死亡。伴发的 BD 系统数量与 1 年死亡风险显著相关，p<0.0001。具体而言，TOF 婴儿无论是否伴有其他心脏缺陷，死亡率为 8%；TOF 婴儿伴 1 种心脏外 BD 系统，死亡率为 16%；TOF 婴儿伴 2 种心脏外 BD 系统，死亡率为 19%；TOF 婴儿伴≥3 种心脏外 BD 系统，死亡率为 39%。调整后，伴发的眼部和胃肠道畸形与 1 年死亡率显著相关，比值比为 2.83（95%置信区间，1.08-7.32）和 4.43（95%置信区间，1.57-12.45）。13 三体或 18 三体的婴儿也更有可能死亡，p<0.0001。
伴发的 BD 和遗传异常都会增加 TOF 婴儿的死亡率。需要进一步研究以确定高危 TOF 婴儿的潜在遗传和社会经济风险因素。出生缺陷研究 109：1154-1165，2017。©2017 年 Wiley 期刊，Inc.
