A Novel Next-Generation Sequencing Based Assay for Non-Invasive Prenatal Testing of Sickle Cell Disease without Paternal DNA

Conclusion: We have developed an assay for non-invasive prenatal testing of sickle cell disease. The results obtained to date indicate that the assay reliably detects fetal SCD when the fetal fraction is as low as 5%, the same limit as aneuploidy NIPT. A fetus with SCD has already been identified, and follow-up is ongoing with >20 pregnancies. Since the HBB NIPT is highly targeted, sequencing cost is <$30 per sample. The ability to ascertain fetal SCD status based only on maternal blood will be valuable in clinical settings where the father is unavailable or sample collection would be inconvenient or time-consuming. Several Phase I/II and Phase III trials for curing SCD or beta-thalassemia using autologous gene-editing of stem cells are currently in progress. SCD NIPT could be particularly useful for deciding to bank umbilical cord blood as a source of stem cells for future gene-editing cures.DisclosuresTsao: BillionToOne: Employment, Equity Ownership, Membership on an entity's Board of Directors or advisory committees, Patents & Royalties. Atay: BillionToOne: Employment, Equity Ownership, Membership on an entity's Board of Directors or advisory committees, Patents & Royalties.
Source: Blood - Category: Hematology Authors: Tags: 114. Hemoglobinopathies, Excluding Thalassemia-Clinical: Poster II Source Type: research