Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening
Article first published online: 4 FEB 2014
© 2014 The Authors. BJOG An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd on behalf of Royal College of Obstetricians and Gynaecologists.
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BJOG: An International Journal of Obstetrics & Gynaecology
Volume 121, Issue 7, pages 809–820, June 2014
How to Cite
Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. BJOG 2014;121:809–820., , , , , , , , , , , , .
- Issue published online: 20 MAY 2014
- Article first published online: 4 FEB 2014
- Manuscript Accepted: 13 OCT 2013
- Northern Ireland Public Health Agency
- EUROCAT. Grant Number: 2010 22 04
- Down syndrome;
- monozygotic and dizygotic pregnancies;
- multiple births;
- pregnancy outcomes;
To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.
Population-based prevalence study based on EUROCAT congenital anomaly registries.
Eight European countries.
14.8 million births 1990–2009; 2.89% multiple births.
DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.
Main outcome measures
Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.
Poisson and logistic regression stratified for maternal age, country and time.
Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27–0.59]).
The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.