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Objective  To determine risk of  D own syndrome ( DS ) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.    Design  Population‐based prevalence study based on  EUROCAT  congenital anomaly registries.    Setting  Eight European countries.    Population  14.8 million births 1990–2009; 2.89% multiple births.    Methods   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.    Results  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 adj RR  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 (adj OR  0.62 [95%  CI  0.50–0.78]) and following diagnosis less likely to be  TOPFA  (adj OR  0.40 [95%  CI  0.27–0.59]).    Conclusions  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.

Prevalence and risk of D own syndrome in monozygotic and dizygotic multiple pregnancies in E urope: implications for prenatal screening