THE SUCCESSFUL DEVELOPMENT AND CLINICAL VALIDATION OF STORK, A RAPID ANEUPLOIDY DETECTION METHOD USING NANOPORE SEQUENCING

Abstract

Aneuploid pregnancies are a significant cause of pregnancy loss, fetal structural anomalies, and developmental delays. Consequently, the identification of genetic abnormalities is an important component of prenatal and fertility care. However, existing tests for aneuploidy have shortcomings that reduce access to reproductive care, delay diagnosis and treatment, and increase costs. We developed a nanopore-based DNA sequencing technology that enables low-cost, same-day, point-of-care, aneuploidy testing of reproductive tissues that we termed STORK (Short-read Transpore Rapid Karyotyping). Here we report on the first clinical validation of STORK in a CLIA-approved laboratory.