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丹麦某地区的主要先天性异常。

Major congenital anomalies in a Danish region.

作者信息

Garne Ester, Hansen Anne Vinkel, Birkelund Anne Sofie, Andersen Anne Marie Nybo

机构信息

Pædiatrisk Afdeling, Sygehus Lillebælt Kolding, Skovvangen 2-8, 6000 Kolding, Denmark.

出版信息

Dan Med J. 2014 Jun;61(6):A4825.

Abstract

INTRODUCTION

This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases.

MATERIAL AND METHODS

This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA).

RESULTS

The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant mortality decreased significantly over time for cases with major congenital anomalies (p < 0.001), whereas the number and proportion of TOPFA increased. Median GA at TOPFA decreased from 18 to 15 weeks. Among the congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use.

CONCLUSION

Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant mortality for congenital anomaly cases have decreased significantly, probably owing to an increase in early prenatal diagnosis and TOPFA.

FUNDING

The study was funded by Region of South Denmark.

TRIAL REGISTRATION

not relevant.

摘要

引言

本研究描述了先天性异常的患病率以及出生结局、死亡率和慢性孕产妇疾病随时间的变化情况。

材料与方法

本研究基于欧洲先天性异常监测系统(EUROCAT)登记处1995 - 2008年覆盖丹麦菲英岛的人口数据。该登记处涵盖活产、孕龄(GA)20周及以上的死胎以及因先天性异常而终止的妊娠(TOPFA)。

结果

先天性异常的总体患病率为2.70%(95%置信区间:2.58 - 2.80)。大多数病例为孤立性先天性异常,13.9%有染色体异常,7.7%为多发性先天性异常。研究区域内胎儿和婴儿的综合死亡率为每1000例出生11.6例。这些死亡病例中,19%(每1000例中有2.2例)是患有严重先天性异常的胎儿和婴儿。患有严重先天性异常的病例,其胎儿和婴儿综合死亡率随时间显著下降(p < 0.001),而TOPFA的数量和比例增加。TOPFA时的孕龄中位数从18周降至15周。在先天性异常病例中,8%记录有以下慢性孕产妇疾病之一:糖尿病、癫痫、精神障碍、甲状腺疾病、哮喘或炎症性肠病。这些疾病的用药占孕产妇用药的46%。

结论

先天性异常病例中孕产妇发病率和潜在致畸药物的使用有所增加。先天性异常病例的胎儿和婴儿死亡率显著下降,可能归因于早期产前诊断和TOPFA的增加。

资助

本研究由南丹麦地区资助。

试验注册

不相关。

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