Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection

Int J Neonatal Screen. 2017 Dec 29;4(1):2. doi: 10.3390/ijns4010002. eCollection 2018 Mar.


A new and fully automated newborn screening method for mass spectrometry was introduced in this paper. Pathological relevant amino acids, acylcarnitines, and certain steroids are detected within 4 min per sample. Each sample is treated in an automated and standardized workflow, where a mixture of deuterated internal standards is sprayed onto the sample before extraction. All compounds showed good linearity, and intra- and inter-day variation lies within the acceptance criteria (except for aspartic acid). The described workflow decreases analysis cost and labor while improving the sample traceability towards good laboratory practice.

Keywords: automation; dried blood spots (DBS); newborn screening (NBS).