Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels
Sabina Cook, Emily Dunn, Jenna Kornish, Laurel Calderwood, MaryAnn Campion, Kristina Cusmano‐Ozog, Christina G. Tise
Topics & Concepts
Newborn screeningMedicineFalse positive paradoxRetrospective cohort studyCarrier testingCohortDiseaseGenetic testingPediatricsInternal medicineGeneticsBiologyPregnancyPrenatal diagnosisComputer scienceMachine learningFetusCystic Fibrosis Research AdvancesMetabolism and Genetic DisordersGenomics and Rare Diseases