Genetic & Genomic MedicinemedRxivPreprint
Clinical validity of single-gene non-invasive prenatal testing for sickle cell disease and beta thalassemia
Erik R. Westin, David Tsao, Oguzhan Atay…·Vivien Sheehan
This study validates a single-gene non-invasive prenatal test (NIPT) for sickle cell disease and beta thalassemia, showing 100% concordance with newborn screening in 79 pregnancies.
2 citations