Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an “in‐house” target enrichment next generation sequencing—Solution for non‐centralized NIPT laboratory?

What is already known about this topic? Non‐invasive prenatal testing (NIPT) using a whole‐genome approach via next generation sequencing (NGS) to detect the fetal genome is currently standard practice. Copy number variant and gene analyses using targeted enrichment have previously been integrated with NIPT, but only in studies of cohorts of pregnant women from large prenatal care centers with sufficient positive and negative controls, and a strong bioinformatics background. What does this study add? Our team developed an unconventional NIPT method using a target enrichment design covering 135 genes associated with severe monogenic diseases combined with a backbone enabling detection of clinically significant chromosomal aberrations. We attempted to transfer the integrated NIPT platform to the environment of a regular genetics laboratory (not a specialized NIPT center) and to assess the informative value of the data for inclusion in the method in clinical practice.