Hoang, TT;
Goldmuntz, E;
Roberts, AE;
Chung, WK;
Kline, JK;
Deanfield, JE;
Giardini, A;
... Agopian, AJ; + view all
(2018)
The Congenital Heart Disease Genetic Network Study: Cohort description.
PLoS ONE
, 13
(1)
, Article e0191319. 10.1371/journal.pone.0191319.
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Abstract
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010–2014. Information on cases (N = 9,727) and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40%) or left ventricular outflow tract obstruction (21%). Across CHD types, there were significant differences (p<0.05) in the distribution of all four case characteristics (e.g., sex), four parental characteristics (e.g., maternal pregestational diabetes), and five neurodevelopmental outcomes (e.g., learning disabilities). Several characteristics (e.g., sex) were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.
| Type: | Article |
|---|---|
| Title: | The Congenital Heart Disease Genetic Network Study: Cohort description |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0191319 |
| Publisher version: | http://doi.org/10.1371/journal.pone.0191319 |
| Language: | English |
| Additional information: | © 2018 Hoang et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Keywords: | Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, DE-NOVO MUTATIONS, BIRTH-DEFECTS, UNITED-STATES, METROPOLITAN ATLANTA, MATERNAL SMOKING, PREVALENCE, OUTCOMES, CHILDREN, INFANT, SEX |
| 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 Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10044962 |
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