Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide

Sowmiya Moorthie, Hannah Blencowe, Matthew W. Darlison, Joy Lawn, Joan K. Morris, Bernadette Modell, Congenital Disorders Expert Group, A. H. Bittles

Research output: Contribution to journalArticlepeer-review

56 Citations (Scopus)
80 Downloads (Pure)


Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other epidemiological changes that could give early warning of environmental or infectious hazards. However, setting up a sustainable registry and surveillance system is resource-intensive requiring national infrastructure for recording all cases and diagnostic facilities to identify those malformations that that are not externally visible. Consequently, not all countries have yet established robust surveillance systems. For these countries, methods are needed to generate estimates of prevalence of these disorders which can act as a starting point for assessing disease burden and service implications. Here, we describe how registry data from high-income settings can be used for generating reference rates that can be used as provisional estimates for countries with little or no observational data on non-syndromic congenital malformations.

Original languageEnglish
Pages (from-to)387-396
Number of pages10
JournalJournal of Community Genetics
Issue number4
Early online date14 Sept 2018
Publication statusPublished - Oct 2018


  • Congenital malformations
  • Estimation
  • Pregnancy outcomes
  • Prevalence

ASJC Scopus subject areas

  • Epidemiology
  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)


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