Twenty-year trends in prevalence and survival of Down syndrome

Eur J Hum Genet. 2008 Nov;16(11):1336-40. doi: 10.1038/ejhg.2008.122. Epub 2008 Jul 2.


The aims of this study were (1) to determine trends in total prevalence and live birth prevalence of Down syndrome, (2) to analyse trends in factors likely to influence this prevalence and (3) to determine 1-year survival in Down syndrome. A retrospective review was made of prospectively collected data on all cases of Down syndrome within a malformation registry born in 1985-2004. Down syndrome affected 1188 pregnancies among 690 215 live births (1.72 per 1000 total births). The proportion increased over 20 years from 1.3 to 2.5 per 1000 total births (P<0.0001). There were 389 terminations for Down syndrome and 51 stillbirths. There were 748 live births with Down syndrome (1.08 per 1000 live births). The live birth prevalence declined in 1985-1994 and increased in 1995-2004 with no overall change. Total live births in the population declined by 20% over 20 years. Mothers delivering at 35 years of age or above increased from 6 to 15%. The uptake of maternal serum screening increased from zero in 1987 to 35% in 1993 but then plateaued. One-year survival of live births with Down syndrome increased, especially in babies with cardiovascular malformations, reaching almost 100%. The prevalence of pregnancies affected by Down syndrome has increased significantly, but there has been no overall change in live birth prevalence. Increasing maternal age and improved survival of children with Down syndrome have offset the effects of prenatal diagnosis followed by the termination of pregnancy and declining general birth rate.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Age Factors
  • Child
  • Child, Preschool
  • Down Syndrome / mortality*
  • Female
  • Humans
  • Infant
  • Longitudinal Studies
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Prevalence
  • Registries*
  • United Kingdom / epidemiology