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Int. J. Neonatal Screen. 2017, 3(4), 29; https://doi.org/10.3390/ijns3040029

A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)

UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, UK
Received: 11 September 2017 / Revised: 8 November 2017 / Accepted: 8 November 2017 / Published: 10 November 2017
View Full-Text   |   Download PDF [171 KB, uploaded 10 November 2017]

Abstract

This review should be seen as a practical tool, one which we hope illustrates potential routes to follow when seeking to implement or lobby for severe combined immunodeficiency newborn screening (SCID NBS) at a national or regional level. Experience has shown that there are country- and region-wide variations in terms of awareness of the need for SCID NBS and the processes required to demonstrate and prove the importance of SCID NBS. This guide therefore aims to share experiences and equip readers with evidence while also directing them to key further reading and resources that provide support, data, and existing frameworks that are relevant to making the case for mandatory NBS for SCID. View Full-Text
Keywords: SCID; T-cell receptor excision circles (TRECs); newborn screening SCID; T-cell receptor excision circles (TRECs); newborn screening
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Gaspar, H.B. A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID). Int. J. Neonatal Screen. 2017, 3, 29.

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