Tandem Mass Spectrometry in Newborn Screening

Dear Colleagues,

Tandem mass spectrometry (MS/MS) has had a profound impact on newborn screening (NBS) from dried blood spots since its introduction over 20 years ago. Initially, flow-injection electrospray ionization tandem mass spectrometry (FIA-ESI-MS/MS) was employed to target approximately thirteen acylcarnitines and eight amino acids derivatized as their butyl esters. The target analytes were simultaneously analyzed in a methanol extract of a single DBS punch containing isotope-labeled internal standards to aid in quantification. Since then, various adaptations and modifications have been made, including the development of a non-derivatized method, the addition of target analytes such as succinylacetone and orotic acid, plus an entirely new phase of NBS – screening for lysosomal storage disorders (LSDs) by measurement of residual enzyme activities using artificial substrates. Meanwhile, liquid chromatography (LC) with ESI-MS/MS methods has been developed for second-tier testing to improve the positive predictive value of several NBS tests. Furthermore, mass spectrometry plays a vital role in follow-up for patients with presumptive-positive NBS tests, where methods based on GC/MS and LC-MS/MS are routinely employed.

This Special Issue of the International Journal of Newborn Screening (IJNS) will showcase the contributions of MS/MS in NBS. Contributors are welcome to submit manuscripts on any of the aforementioned applications of MS/MS and their impact on the NBS program, any time from now until the deadline of May 31, 2021.

Prof. Dr. David S. Millington
Dr. Donald H. Chace
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.