Congenital heart disease (CHD) affects 1 in 100 live births and is the leading cause of neonatal deaths related to birth defects. The genetic cause is known in less than 10% cases. The PROCEED project will use whole genome sequencing that can search the entire genome to identify the genetic basis of two rare disorders that cause “blue” babies – tetralogy of Fallot (TOF) and transposition of the great arteries (TGA). We will determine how genetic differences help in predicting the severity of disease. Canadian, Dutch and German partners will share patient samples for this study and jointly develop bioinformatics analysis tools that will help to identify the gene defects. These tools will be shared with the broader scientific community internationally. The findings will be leveraged to develop genomic diagnostics for CHD that will predict whether a fetus will have a simple or a complex defect, will help with more accurate counselling of pregnant women, and allow pre-implantation genetic diagnosis to facilitate a subsequent healthy pregnancy. In the future, it may inform which patients may benefit from fetal interventions that can slow disease progression. Together, this will help to reduce the burden of complex CHD and to improve outcomes in this vulnerable population.
