Asunto(s)
Anemia de Células Falciformes , Necrosis de la Cabeza Femoral , Imagen por Resonancia Magnética , Remisión Espontánea , Tomografía Computarizada por Rayos X , Adolescente , Adulto , Anemia de Células Falciformes/diagnóstico por imagen , Anemia de Células Falciformes/fisiopatología , Niño , Femenino , Necrosis de la Cabeza Femoral/diagnóstico por imagen , Necrosis de la Cabeza Femoral/fisiopatología , Estudios de Seguimiento , Humanos , MasculinoRESUMEN
Next-generation DNA sequencing is currently limited by an inability to accurately count the number of input DNA molecules. Molecular counting is particularly needed when accurate quantification is required for diagnostic purposes, such as in single gene non-invasive prenatal testing (sgNIPT) and liquid biopsy. We developed Quantitative Counting Template (QCT) molecular counting to reconstruct the number of input DNA molecules using sequencing data. We then used QCT molecular counting to develop sgNIPTs of sickle cell disease, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-thalassemia. The analytical sensitivity and specificity of sgNIPT was >98% and >99%, respectively. Validation of sgNIPTs was further performed with maternal blood samples collected during pregnancy, and sgNIPTs were 100% concordant with newborn follow-up.