Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide.

Moorthie, S; Blencowe, H; Darlison, MW; Gibbons, S; Lawn, JE; Mastroiacovo, P; Morris, JK; Modell, B; Congenital Disorders Expert Group, ; , COLLABORATORS; Bittles, AH; Blencowe, H; Christianson, A; Cousens, S; Darlison, MW; Gibbons, S; Hamamy, H; Khoshnood, B; Howson, CP; Lawn, JE; Mastroiacovo, P; Modell, B; Moorthie, S; Morris, JK; Mossey, PA; Neville, AJ; Petrou, M; Povey, S; Rankin, J; Schuler-Faccini, L; Wren, C; Yunis, KA; (2017) Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide. Journal of community genetics. ISSN 1868-310X DOI:

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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.

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Infectious Disease Epidemiology
PubMed ID: 28948513


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