Toxværd Marlene E, Garne Ester
Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.
Front Pediatr. 2021 Feb 5;9:614864. doi: 10.3389/fped.2021.614864. eCollection 2021.
Surveillance of congenital anomalies is important in order to detect negative influences from environment, medication, or lifestyle as early as possible. Since most teratogens are associated with a spectrum of birth defects rather than a single defect, analysis of the epidemiology of multiple congenital anomalies is important to detect an increase due to environmental or medicine exposure. The aim of the study was to describe changes in prevalence, types of anomalies, and outcome of pregnancies for fetuses and infants with multiple congenital anomalies before and after introduction of the new screening program in the County of Funen, Denmark. The study was based on data from the EUROCAT registry of the County of Funen for the period 1990 to 2014 covering 135,057 births. The registry includes information about livebirths, fetal deaths after 20 weeks of gestation and terminations of pregnancy after prenatal diagnosis of fetal anomalies. All cases with two or more major congenital anomalies in different organ systems, where the pattern of anomalies were not recognized as part of a chromosomal or genetic syndrome or a sequence were included in the study. Overall prevalence of multiple congenital anomalies was 19.7 per 10,000 pregnancies. There was no significant change in prevalence over time. The prenatal detection rate increased from 26 to 57% after introduction of the screening program ( < 0.001). Proportion of terminations of pregnancy increased from 11 to 30% of all cases and 1-week survival for livebirths increased from 64 to 94%. There was no change in combinations of involved organ systems. The implementation of the new screening program in 2004 has led to an increased prenatal detection rate of multiple congenital anomalies followed by an increased rate of termination of pregnancy for the most severe cases and an increased 1-week survival for liveborn infants with multiple congenital anomalies.
对先天性异常进行监测很重要，以便尽早发现环境、药物或生活方式的负面影响。由于大多数致畸剂与一系列出生缺陷相关，而非单一缺陷，因此分析多种先天性异常的流行病学情况对于发现因环境或药物暴露导致的异常增加很重要。本研究的目的是描述丹麦菲英岛引入新筛查项目前后，患有多种先天性异常的胎儿和婴儿的患病率变化、异常类型以及妊娠结局。该研究基于菲英岛1990年至2014年期间EUROCAT登记处的数据，涵盖135,057例出生情况。该登记处包括活产、妊娠20周后的死胎以及产前诊断出胎儿异常后的妊娠终止信息。所有在不同器官系统中有两个或更多主要先天性异常，且异常模式未被识别为染色体或遗传综合征或序列一部分的病例都纳入了研究。多种先天性异常的总体患病率为每10,000例妊娠19.7例。患病率随时间没有显著变化。引入筛查项目后，产前检测率从26%提高到了57%（<0.001）。妊娠终止比例从所有病例的11%增加到了30%，活产儿的1周存活率从64%提高到了94%。受累器官系统的组合没有变化。2004年实施的新筛查项目导致多种先天性异常的产前检测率提高，随后最严重病例的妊娠终止率增加，患有多种先天性异常的活产婴儿的1周存活率提高。
