Newborn Screening

Abstract

Screening newborns for inherited disorders provides an opportunity for pre-symptomatic identification and early intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since the introduction of newborn screening in 1962 to screen for phenylketonuria, technological advances have enabled the screening panel to expand substantially so that it now includes more than 50 disorders. Newborn screening will continue to evolve,, and deployment of improved methodologies and incorporation of additional disorders are expected. This article provides an overview of the current state of newborn screening, and describes the disorders detectable, the methodologies employed, and the challenges involved in analyses of specimens obtained from newborns.

Keywords::

• Biotinidase deficiency
• congenital adrenal hyperplasia
• cystic fibrosis
• false negatives
• false positives
• galactosemias
• hemoglobin disorders
• hypothyroidism
• lysosomal storage disorders
• metabolic disorders
• positive predictive value
• tandem mass spectrometry
• specimen collection
• second-tier tests

Acknowledgments

Declaration of interest:The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.