Lecture
Newborn Screening by Mass Spectrometry – From Analytical Precision to Diagnostic Quality
- at -
- ICM Saal 4a
- Type: Lecture
Lecture description
Newborn screening is one of the most effective secondary prevention programs worldwide. Advances in therapies and analytical technologies have expanded the number of target disorders included in screening panels. Mass spectrometry has become
a central technology, offering high analytical performance and driving screening efficiency, a key metric for primary assay quality. More recently, MS-based methods have been widely adopted in second-tier testing, reducing false positives and improving
diagnostic specificity.
This presentation highlights established and emerging quality assurance strategies in newborn screening and discusses how mass spectrometry contributes to maintaining high diagnostic quality and reliability in routine clinical practice.
a central technology, offering high analytical performance and driving screening efficiency, a key metric for primary assay quality. More recently, MS-based methods have been widely adopted in second-tier testing, reducing false positives and improving
diagnostic specificity.
This presentation highlights established and emerging quality assurance strategies in newborn screening and discusses how mass spectrometry contributes to maintaining high diagnostic quality and reliability in routine clinical practice.