Abstract
This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participated. Trisomy cases included live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly. We present correction to 20 weeks gestational age (ie, correcting early terminations for the probability of fetal survival to 20 weeks) to allow for artefactual screening-related differences in total prevalence. Poisson regression was used. The proportion of births in the population to mothers aged 35+ years in the participating registries increased from 13% in 1990 to 19% in 2009. Total prevalence per 10 000 births was 22.0 (95% CI 21.7–22.4) for trisomy 21, 5.0 (95% CI 4.8–5.1) for trisomy 18 and 2.0 (95% CI 1.9–2.2) for trisomy 13; live birth prevalence was 11.2 (95% CI 10.9–11.5) for trisomy 21, 1.04 (95% CI 0.96–1.12) for trisomy 18 and 0.48 (95% CI 0.43–0.54) for trisomy 13. There was an increase in total and total corrected prevalence of all three trisomies over time, mainly explained by increasing maternal age. Live birth prevalence remained stable over time. For trisomy 21, there was a three-fold variation in live birth prevalence between countries. The rise in maternal age has led to an increase in the number of trisomy-affected pregnancies in Europe. Live birth prevalence has remained stable overall. Differences in prenatal screening and termination between countries lead to wide variation in live birth prevalence.
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Acknowledgements
This study was co-funded by the European Commission under the framework of the European Union Health Programme, Grant Agreement 2006103 (Executive Agency for Health and Consumers). EUROCAT registries are funded as fully described in Paper 6 of Report 9 – EUROCAT Member Registries: Organization and Activities. The responsibility for the interpretation of data and/or information supplied is the authors' alone. We thank the many people throughout Europe involved in providing and processing information, including affected families, clinicians, health professionals, medical record clerks and registry staff.
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Appendix
The risk of fetal loss before 20 weeks gestation given the pregnancy was terminated at X weeks gestation is estimated by the probability of fetal loss at X weeks divided by the probability of fetal loss at 20 weeks gestation. This risk is the survival correction weight given in Table 1. These weights are then used to adjust the number of terminations reported at each gestational age to predict the number that would have survived to 20 weeks gestation.
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Loane, M., Morris, J., Addor, MC. et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet 21, 27–33 (2013). https://doi.org/10.1038/ejhg.2012.94
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DOI: https://doi.org/10.1038/ejhg.2012.94
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