Counting congenital conditions, deaths & disability in the SDG era

On Wednesday 14th November Emeritus Professor Bernadette Modell was joined by a panel of experts at LSHTM to mark the release of a special issue of the Journal of Community Genetics. The talk focused on the development of more accurate country-specific estimates for congenital conditions, which are defined by their onset before birth. Beyond this, the group represents a diverse range of conditions, from disorders of structure, such as spina bifida, to abnormalities of function, such as sickle cell disease.

Prof Joy Lawn, MARCH Director, chaired the session

Professor Modell’s team have taken a novel approach to measuring these conditions by combining the risk of congenital conditions, common to any pregnancy, with region-specific variations in rates of certain conditions, enabling them to provide specific estimates for every country. Combined, these estimates suggest that worldwide, 4% of births are affected and over 2 million children under the age of 5 die each year due to congenital conditions. Depending on the definitions used, their estimates are up to 4 times higher than previous studies.

Many congenital conditions are amenable to intervention, such as fortifying flour with folic acid to reduce neural tube defects and surgery to correct holes in the heart. Professor Modell explored the impact of currently available interventions at various stages of the life course. She demonstrated that if these were provided to all, the number of babies being born with congenital conditions could be drastically reduced, and for births still affected by congenital conditions, survival and quality of life could be markedly improved.

Professor Modell’s estimates show that a large proportion of the burden of congenital conditions falls on countries with weak health information systems which are unable to directly count babies with these conditions. With the better data provided by the Modell Global Database of Congenital Disorders, policy makers will be able to combine country-specific estimates with the potential impacts of different packages of interventions to guide decision making and reduce the burden of congenital conditions.

During the discussion- chaired by Professor Joy Lawn, Director of the MARCH centre- Dr Sowmiya Moorthie, from the PHG foundation, outlined how a lack of reliable country-level data has hampered efforts to implement policy to prevent and treat these conditions, whilst Professor Joan Morris of St Georges University highlighted the role of prenatal screening in improving outcomes. Professor Hannah Kuper, Director of the International Centre for Evidence in Disability at LSHTM, emphasised that improved survival would lead to more long-term disability. As a result, she argued that we need to maximise the lives of children surviving with disabilities by enabling equitable access to education, employment and freedom from violence and abuse.

By Andrew Young, Child theme student liaison