Twenty-year trends in prevalence and survival of Down syndrome (original) (raw)

European Journal of Human Genetics volume 16, pages 1336–1340 (2008)Cite this article

Abstract

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.

Similar content being viewed by others

References

  1. Bower C, Leonard H, Petterson B : Intellectual disability in Western Australia. J Paediatr Child Health 2000; 36: 213–215.
    Article CAS Google Scholar
  2. Wyllie J, Madar R, Wright M, Burn J, Wren C : Strategies for antenatal detection of Down's syndrome. Arch Dis Child 1997; 76: F26–F30.
    Article CAS Google Scholar
  3. Leonard H, Wen X : The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117–134.
    Article Google Scholar
  4. Howe DT, Gornall R, Wellesley D, Boyle T, Barber J : Six year survey of screening for Down's syndrome by maternal age and mid-trimester ultrasound scans. BMJ 2000; 320: 606–610.
    Article CAS Google Scholar
  5. Gidiri M, McFarlane J, Holding S, Lindow S : Maternal serum screening for Down syndrome: are women's perceptions changing? BJOG 2007; 114: 458–461.
    Article CAS Google Scholar
  6. Richmond S, Atkins J : A population-based study of the prenatal diagnosis of congenital malformation over 16 years. BJOG 2005; 112: 1349–1357.
    Article Google Scholar
  7. Dolk H, Loane M, Garne E et al: Trends and geographical inequalities in the prevalence of Down syndrome in Europe, 1980–1999. Rev Epidemiol Sante Publique 2005; 53: 2S87–2S95.
    Article Google Scholar
  8. Wren C, Richmond S, Donaldson L : Presentation of congenital heart disease in infancy – implications for routine examination. Arch Dis Child 1999; 80: F49–F53.
    Article CAS Google Scholar
  9. Bell R, Glinianaia SV, Rankin J, Wright C, Pearce MS, Parker L : Changing patterns of perinatal death, 1982–2000; a retrospective cohort study. Arch Dis Child 2004; 89: F531–F536.
    Article CAS Google Scholar
  10. Boyd PA, Armstrong B, Dolk H et al: Congenital anomaly surveillance in England – ascertainment deficiencies in the national system. BMJ 2005; 330: 27–31.
    Article CAS Google Scholar
  11. Rasmussen S, Wong L, Correa A, Gambrell D, Friedman J : Survival in infants with Down syndrome, Metropolitan Atlanta, 1979–1998. J Pediatr 2006; 148: 806–812.
    Article Google Scholar
  12. Office for National Statistics: Live births: 1938–2004. accessed at http://www.statistics.gov.uk/STATBASE/xsdataset.asp?vlnk=4274.
  13. Dixon J, Pillai M, Mahendran D, Brooks M : An assessment of the Down syndrome antenatal screening policies of East and West Gloucestershire between 1993 and 1999. J Obstet Gynaecol 2004; 24: 760–764.
    Article CAS Google Scholar
  14. Ward P, Muir Gray JA : Antenatal screening service for Down's syndrome in England: 2001. National Screening Committee. available at http://www.library.nhs.uk/screening/viewResource.aspx?resID=59830.
  15. Khoshnood B, De Vigan C, Vodovar V, Goujard J, Goffinet F : A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981–2000. BJOG 2004; 111: 485–490.
    Article Google Scholar
  16. Resta RG : Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: implications for prenatal screening and genetic counseling. Am J Med Genet 2005; 133A: 31–36.
    Article Google Scholar
  17. Egan JFX, Benn PA, Zelop CM, Bolnick A, Gianferrari E, Borgida AF : Down syndrome births in the United States from 1989 to 2001. Am J Obstet Gynecol 2004; 191: 1044–1048.
    Article Google Scholar
  18. Weijerman ME, van Furth AM, Noordegraaf AV, van Wouwe JP, Broers CJM, Gemke RJBJ : Prevalence, neonatal characteristics, and first-year mortality of Down syndrome: a national study. J Pediatr 2008; 152: 15–19.
    Article Google Scholar
  19. Collins VR, Muggli EE, Riley M, Palma S, Halliday JL : Is Down syndrome a disappearing birth defect? J Pediatr 2008; 152: 20–24.
    Article Google Scholar
  20. Mayor S : Denmark halves Down's births by non-invasive screening in early pregnancy. BMJ 2007; 334: 1291.
    Article Google Scholar
  21. Merrick J : Down syndrome in Israel. Downs Syndr Res Pract 2001; 6: 128–130.
    Article CAS Google Scholar
  22. Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH : The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clin Genet 2002; 62: 390–393.
    Article CAS Google Scholar
  23. Smith DS : Health care management of adults with Down's syndrome. Am Fam Physician 2001; 64: 1031–1038.
    CAS PubMed Google Scholar

Download references

Acknowledgements

We are indebted to Mary Bythell at the Northern Congenital Abnormality Survey and the Perinatal Mortality Survey for providing data, and to Professor John Matthews for statistical advice. We are grateful to all link clinicians in the Northern region for their continued collaboration and support of the NorCAS. NorCAS is funded by the Department of Health Policy Research Programme (Disease Register). All authors participated in the design, data analysis and writing of the study and have seen and approved the final version. Claire Irving and Anna Basu collected most of the data.

Author information

Authors and Affiliations

  1. Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne, UK
    Claire Irving & Christopher Wren
  2. Department of Paediatrics, Newcastle General Hospital, Newcastle upon Tyne, UK
    Anna Basu
  3. Northern Congenital Abnormality Survey, Newcastle upon Tyne, UK
    Sam Richmond
  4. Institute of Human Genetics, Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    John Burn

Authors

  1. Claire Irving
  2. Anna Basu
  3. Sam Richmond
  4. John Burn
  5. Christopher Wren

Corresponding author

Correspondence toChristopher Wren.

Additional information

Conflict of interest

All authors declare that they have no conflict of interest and have nothing to declare. No funding was obtained for this study.

Rights and permissions

About this article

Cite this article

Irving, C., Basu, A., Richmond, S. et al. Twenty-year trends in prevalence and survival of Down syndrome.Eur J Hum Genet 16, 1336–1340 (2008). https://doi.org/10.1038/ejhg.2008.122

Download citation

Keywords

This article is cited by