Summary
Congenital heart disease (CHD) is the most common birth defect and often has a complex genetic basis. While chromosomal microarray has historically been a first-line test, next-generation sequencing (NGS) panels have been used less frequently due to perceived low yield. To evaluate their utility for this population, we reviewed results from 204 patients with CHD who underwent testing for the Blueprint Genetics NGS Congenital Structural Heart Disease panel. Key findings include that
- 14.2% of patients received an informative genetic test result
- The yield of testing was higher in patients with syndromic features (20.7%) compared to those with apparently isolated CHD (9.5%)
- Copy number variants (CNVs) accounted for 24% of informative results of patients
In this cohort, sequence variants accounted for most informative test results. NGS methods, combining both sequencing and copy number variant analysis are useful for evaluating genetic cause of CHD, especially in patients with syndromic features.
Authors:
Julie Hathaway, Marcos Cicerchia, Johanna Tommiska, Saija Ahonen, Eija Seppälä, Kimberly Gall, Alicia Scocchia, Inka Saarinen, Matias Rantanen, Jennifer Schleit, Tiia Kangas-Kontio, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo