The five-year survival of children with Down syndrome in Norway 1994-2009 differed by associated congenital heart defects and extracardiac malformations
The five-year survival of children with Down syndrome in Norway 1994-2009 differed by associated congenital heart defects and extracardiac malformations
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DOI：
10.1111/apa.14223
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发表时间：
2018-05-01
期刊：
影响因子：
3.8
通讯作者：
Oyen, Nina
中科院分区：
文献类型：
--
作者：
Brodwall, Kristoffer;Greve, Gottfried;Oyen, Nina
目的：我们调查了唐氏综合征在全国出生队列中的患病率，重点关注先天性心脏病(CHD)及其与心外畸形(ECM)和生存的关系。方法：使用国家登记来识别挪威出生(1994-2009年)和死亡(1994-2014)，并根据医院诊断进行更新。我们估计了唐氏综合征和一般人群中出生缺陷的频率，CHD和ECM之间的关联，以及不同CHDS和ECM组合的死亡风险比。结果：在953,450名新生儿中，有1672人发现了唐氏综合征，17.6/10,000。在1251名活产儿中(13.3/10000)，58%患有CHD，9%患有ECM。CHDS与食道闭锁(p=0.02)和先天性巨结肠(p=0.03)相关，但无其他畸形。唐氏综合征患者的5年生存率从1994年至1999年的91.8%上升至2000年至2009年的95.8%(p=0.006)，其中有冠心病的总生存率为92.0%，无冠心病的总生存率为97.4%。与无先天性心脏病或ECM的唐氏综合征儿童相比，无ECM或无ECM的非严重先心病的5年死亡率相似，但无ECM的重度先心病的5年死亡率是Down综合征的4~7倍，重度先心病和ECM的5年死亡率是Down综合征的13~28倍。结论：Down综合征的儿童生存率提高，但有严重的CHD和心外畸形的死亡率仍然较高。
Aim: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects (CHDs), their associations with extracardiac malformations (ECM) and survival.Methods: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between CHDs and ECM and hazard ratios for death from different combinations of CHDs and ECM.Results: Down syndrome was found in 1672 of 953 450 births (17.6 per 10 000). Of the 1251 live births (13.3 per 10 000), 58% had CHD and 9% ECM. CHDs were associated with oesophageal atresia (p = 0.02) and Hirschsprung's disease (p = 0.03) but with no other malformations. The five-year survival for Down syndrome increased from 91.8% (1994-1999) to 95.8% (2000-2009) (p = 0.006), and overall survival was 92.0% with CHD and 97.4% without. Compared with Down syndrome children without CHD or ECM, the five-year mortality was similar for those with nonsevere CHDs, without or with ECM, but 4-7 times higher in those with severe CHDs without ECM and 13-28 times higher in those with severe CHDs and ECM.Conclusion: Down syndrome childhood survival improved, but mortality remained high with severe CHDs and extracardiac defects.