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Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study
Joan K Morris1, Ester Garne, Diana Wellesley
1Queen Mary University of London, London, United Kingdom.
Insights
National antenatal screening for Down syndrome (DS) and pregnancy terminations did not impact the prevalence of cardiac or non-cardiac congenital anomalies in babies born with DS. The rates of these conditions in DS births remained constant.
Area of Science:
- Medical Genetics
- Public Health
- Pediatrics
Background:
- Over 40% of infants with Down syndrome (DS) exhibit major cardiac anomalies, with increased likelihood of other congenital anomalies.
- European nations implemented national antenatal screening programs for DS starting in 2000.
Purpose of the Study:
- To investigate if antenatal screening for Down syndrome and subsequent pregnancy terminations influenced the prevalence of congenital anomalies in DS births.
- To analyze trends in cardiac and non-cardiac anomalies among live births and fetal deaths with Down syndrome.
Main Methods:
- Analysis of data from 7,044 live births and fetal deaths with Down syndrome.
- Data sourced from 28 European population-based congenital anomaly registries (2000-2010).
- Comparison of anomaly prevalence before and after the introduction of screening programs.
Main Results:
- Overall, 43.6% of DS births had cardiac anomalies and 15.0% had non-cardiac anomalies.
- Female infants with DS showed a higher prevalence of cardiac anomalies (47.6%) versus males (40.4%).
- Prevalence of both cardiac and non-cardiac anomalies in DS births remained consistent over the study period.
Conclusions:
- Population screening for Down syndrome and selective pregnancy terminations have not altered the prevalence of specific congenital anomalies in infants with DS.
- Congenital anomaly rates in Down syndrome births appear independent of screening and termination policies.
Abstract:
Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P < 0.001) and significantly less likely to have a non-cardiac anomaly (12.9% compared with 16.7%, P < 0.001). The prevalence of cardiac and non-cardiac congenital anomalies in babies with Down syndrome has remained constant, suggesting that population screening for Down syndrome and subsequent terminations has not influenced the prevalence of specific congenital anomalies in these babies.
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