Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

B Boyle, J Morris, Roy McConkey, E Garne, Maria Loane, MC Addor, M Gatt, M Haeusler, A Latos-Bielenska, N Lelong, R McDonnell, C Mullaney, M O'Mahony, Helen Dolk

Research output: Contribution to journalArticlepeer-review

47 Citations (Scopus)


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.

Statistical analysis
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.
Original languageEnglish
Pages (from-to)809-820
Number of pages12
JournalBJOG: An International Journal of Obstetrics and Gynaecology
Issue number7
Early online date4 Feb 2014
Publication statusPublished (in print/issue) - 30 Jun 2014


  • Concordance
  • Down syndrome
  • monozygotic and dizygotic pregnancies
  • multiple births
  • pregnancy outcomes
  • twins


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