At the Curating the Clinical Genome event in May 2021, Suzanne Drury, Lead Transitional Scientist, Prenatal Genomics and Personalized Health at Congenica, presented a poster that detailed non-invasive prenatal solutions for multiple single gene disorders in a single test - Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS). 

suzanne drury ngps

Introduction 

Fetal anomalies are detected in ~3% of pregnancies and are responsible for ~20% of perinatal deaths. Approximately two-thirds of single gene causes of fetal anomalies are de novo mutations (DNMs). Advances in genomic technology have led to rapid adoption of non-invasive prenatal testing for aneuploidy, but tools to support non-invasive diagnosis of single gene disorders are limited.  

 

Our objective was to develop a comprehensive assay and analytical pipeline to pair with the Congenica clinical decision support platform, to enable non-invasive detection of de novo mutations associated with fetal anomalies. 

 

The INGENIOUS gene panel detects causative de novo variants in cfDNA 

Cases from 73 quads with gestation range 10+6 to 36+4 were assessed and had a median fetal fraction of 12% (range 3-38%). In total 17 de novo variants were identified and 16/17 (94%) were detected in the non-invasive sample. Six of these variants were confirmed to be pathogenic and 100% (6/6) were correctly identified in cfDNA. A median of 1 putative de novo variant per case was identified (mode 0, range 0-8). 

 

Download the poster 

 

Other recent posters presented by Congenica include: 

Skeletal Dysplasia 

Automated variant classification 

 

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