Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

• Main Authors: Abigail Veldman (Author), Mensiena B. G. Kiewiet (Author), Margaretha Rebecca Heiner-Fokkema (Author), Marcel R. Nelen (Author), Richard J. Sinke (Author), Birgit Sikkema-Raddatz (Author), Els Voorhoeve (Author), Dineke Westra (Author), Martijn E. T. Dollé (Author), Peter C. J. I. Schielen (Author), Francjan J. van Spronsen (Author)
• Format: Book
• Published: MDPI AG, 2022-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (IMD). Next-generation sequencing (NGS) is expected...