Newborn Screening: Current Status in Alberta, Canada

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.

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Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

International Journal of Neonatal Screening ◽

10.3390/ijns3020015 ◽

2017 ◽

Vol 3 (2) ◽

pp. 15 ◽

Cited By ~ 11

Author(s):

Morna Dorsey ◽

Jennifer Puck

Keyword(s):

Newborn Screening ◽

Severe Combined Immunodeficiency ◽

Current Status ◽

Combined Immunodeficiency ◽

The Us

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History and current status of newborn screening for severe combined immunodeficiency

Seminars in Perinatology ◽

10.1053/j.semperi.2015.03.004 ◽

2015 ◽

Vol 39 (3) ◽

pp. 194-205 ◽

Cited By ~ 70

Author(s):

Antonia Kwan ◽

Jennifer M. Puck

Keyword(s):

Newborn Screening ◽

Severe Combined Immunodeficiency ◽

Current Status ◽

Combined Immunodeficiency

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Cost-effectiveness of newborn screening for severe combined immunodeficiency

European Journal of Pediatrics ◽

10.1007/s00431-019-03346-3 ◽

2019 ◽

Vol 178 (5) ◽

pp. 721-729 ◽

Cited By ~ 8

Author(s):

Catharina P. B. Van der Ploeg ◽

Maartje Blom ◽

Robbert G. M. Bredius ◽

Mirjam van der Burg ◽

Peter C. J. I. Schielen ◽

...

Keyword(s):

Cost Effectiveness ◽

Newborn Screening ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

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Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

International Journal of Neonatal Screening ◽

10.3390/ijns7030040 ◽

2021 ◽

Vol 7 (3) ◽

pp. 40

Author(s):

Anne E. Atkins ◽

Michael F. Cogley ◽

Mei W. Baker

Keyword(s):

Newborn Screening ◽

Premature Infant ◽

Gestational Age ◽

Linear Regression Analysis ◽

Severe Combined Immunodeficiency ◽

Cell Receptor ◽

Full Term ◽

Combined Immunodeficiency ◽

Term Infants ◽

Preterm Newborns

The Wisconsin Newborn Screening (NBS) Program began screening for severe combined immunodeficiency (SCID) in 2008, using real-time PCR to quantitate T-cell receptor excision circles (TRECs) in DNA isolated from dried blood NBS specimens. Prompted by the observation that there were disproportionately more screening-positive cases in premature infants, we performed a study to assess whether there is a difference in TRECs between full-term and preterm newborns. Based on de-identified SCID data from 1 January to 30 June 2008, we evaluated the TRECs from 2510 preterm newborns (gestational age, 23–36 weeks) whose specimens were collected ≤72 h after birth. The TRECs from 5020 full-term newborns were included as controls. The relationship between TRECs and gestational age in weeks was estimated using linear regression analysis. The estimated increase in TRECs for every additional week of gestation is 9.60%. The 95% confidence interval is 8.95% to 10.25% (p ≤ 0.0001). Our data suggest that TRECs increase at a steady rate as gestational age increases. These results provide rationale for Wisconsin’s existing premature infant screening procedure of recommending repeat NBS following an SCID screening positive in a premature infant instead of the flow cytometry confirmatory testing for SCID screening positives in full-term infants.

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