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Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide

Moorthie, S; Blencowe, H; Darlison, MW; Gibbons, S; Lawn, JE; Mastroiacovo, P; Morris, JK; ... Congenital Disorders Expert Group, .; + view all (2018) Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide. Journal of Community Genetics , 9 (4) pp. 377-386. 10.1007/s12687-017-0336-2. Green open access

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Abstract

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.

Type: Article
Title: Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide
Location: Germany
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s12687-017-0336-2
Publisher version: http://doi.org/10.1007/s12687-017-0336-2
Language: English
Additional information: © The Author(s) 2017. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/ licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Keywords: Birth prevalence, Chromosomal disorders, Disability, Mortality
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health > Primary Care and Population Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics > CHIME
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health > Maternal and Fetal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1576384
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