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Updated: Sep 10, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
The Emerging Role of Genome Sequencing in Newborn Screening
Bimal P Chaudhari1, William Burns2, Emily Messick3
1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; Division of Neonatology, Nationwide Children's Hospital; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
None:
Newborn screening (NBS) is utilized to identify genetic and other health issues in newborns to decrease morbidity, mortality, and the overall burden of disease to individuals and society by allowing early treatment, often before an infant would have signs or symptoms of a disease. Recently, utilization of genome sequencing (GS) has been proposed as an adjunct to GS for NBS (gNBS). Ongoing research studies focused on gNBS will provide crucial evidence on the appropriate integration of gNBS and traditional NBS.
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