Newborn Screening: Current Status in Alberta, Canada.

De Souza De Souza,Battochio Battochio,Wolan Wolan,Christian Christian,Sosova Sosova,Johner Johner,Lilley Lilley,Hume Hume,Ridsdale Ridsdale,Schnabl Schnabl,Yuen-Jung Yuen-Jung,Tran Tran

doi:10.3390/ijns5040037

Abstract

Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territory. The Alberta panel screens for 21 disorders (16 metabolic, two endocrine, cystic fibrosis, severe combined immunodeficiency, and sickle cell disease). NBS is a standard of care, but is not mandatory. NBS performance is monitored by the Alberta Newborn Metabolic Screening (NMS) Program and NMS Laboratory, who strive for continuous quality improvement. Performance analysis found that over 99% of registered infants in Alberta received a newborn screen and over 98% of these infants received a screen result within 10 days of age.

Highlights

Newborn screening (NBS) has dramatically improved the morbidity and mortality associated with the screened disorders
The history of newborn screening began in the 1960s when Robert Guthrie introduced the Guthrie card and a bacterial inhibition assay to screen for phenylketonuria (PKU) in dried blood spots [2]
In the 1990s, the introduction of tandem mass spectrometry (MS/MS) into NBS laboratories revolutionized the NBS field, as this technology had the ability to screen for several different disorders by simultaneous amino acid and acylcarnitine analyses in a single blood spot [3,4,5,6,7,8,9]

Summary

Introduction

Newborn screening (NBS) has dramatically improved the morbidity and mortality associated with the screened disorders. The disorders are screened by the NMS Laboratory, with the exception of SCID and second-tier testing for CF, which are performed by the Molecular Diagnostics Laboratory at the UAH. In the 2018–2019 reporting year, 1038 inadequate sample alerts (1.88%) were generated for 55,316 samples the original card and transported to the Molecular Diagnostics Laboratory for SCID testing. Samples are to be analyzed within 48 h and both normal and abnormal results reported within 96 h of receipt (including weekends and holidays) in the laboratory For those samples requiring second-tier molecular genetic testing, results are to be reported within 21 days of receipt in the laboratory. The NMS Application generates an alert for samples requiring recollection due to borderline results. If a result is not reported within 25 days of sample receipt by the NMS Laboratory, an alert is generated by the NMS Application for the laboratory to follow up on the testing status. Any additional non-newborn screening-related testing requires parent or guardian consent for sample use

Alberta NMS 2019 Panel Expansion

Key Performance Measures and Outcomes from Alberta Newborn Screening

Conclusions