Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide

Sowmiya Moorthie, Hannah Blencowe, Matthew W. Darlison (Lead / Corresponding author), Stephen Gibbons, Joy E. Lawn, Pierpaolo Mastroiacovo, Joan K. Morris, Bernadette Modell, Congenital Disorders Expert Group

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)
171 Downloads (Pure)


Chromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to the general population, there is a higher frequency of death before the age of five. In many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We have developed methods, which overcome this lack of data and allow estimation of the burden of affected pregnancies and their outcomes in different settings worldwide. For example, the methods include a simple equation relating the percentage of mothers 35 and over to Down syndrome birth prevalence. The results obtained provide a starting point for consideration of services that can be implemented for the care and prevention of these disorders.

Original languageEnglish
Pages (from-to)377-388
Number of pages10
JournalJournal of Community Genetics
Early online date26 Sep 2017
Publication statusPublished - Oct 2018


  • Birth prevalence
  • Chromosomal disorders
  • Disability
  • Mortality


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