Invasive fetal sampling is currently the only way to comprehensively test genomic material for single gene disorders, for example using exome sequencing. These procedures are associated with a risk of miscarriage (~1%).
Non-invasive methods testing cell-free fetal DNA exist for common aneuploidy and a handful of single gene disorders, but prenatal genotype-phenotype knowledge is constantly expanding, and it would therefore be beneficial to be able to comprehensively, non-invasively test pregnancies affected by ultrasound detected abnormalities.
Congenica has developed an extensive test (INGENIOUS) for the non-invasive detection of disease-causing variants associated with fetal anomalies which arise de novo (Around two-thirds of fetal abnormalities, after normal microarray).
We show 100% clinical sensitivity to date, with improved filtering reducing the number of putative de novo variants for review. You can view the results of the analysis by downloading the poster below.
The poster 'Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA' was presented at the International Conference on Prenatal Diagnosis and Therapy on 9 September 2019. Presented by: Dr Suzanne Drury, Clinical Genomics and Personalised Medicine Specialist at Congenica