Next Article in Journal
It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance
Previous Article in Journal
A Visit with Dr. Louis Woolf, Recognizing His 100th Birthday and His Contributions to the Diagnosis and Treatment of Phenylketonuria
Open AccessArticle

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia

1
Department of Pathology and Laboratory Medicine, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3N1, Canada
2
Department of Pediatrics, BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada
3
Department of Pediatrics, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3N1, Canada
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 46; https://doi.org/10.3390/ijns6020046
Received: 11 May 2020 / Revised: 25 May 2020 / Accepted: 27 May 2020 / Published: 2 June 2020
Newborn screening for Cystic Fibrosis has been implemented in most programs worldwide, but the approach used varies, including combinations of immunoreactive trypsinogen (IRT) and CFTR mutation analysis on one or more specimens. The British Columbia (BC) newborn screening program tests ~45,000 infants per year in BC and the Yukon Territory, covering almost 1.5 million km2 in western Canada. CF screening was initiated using an IRT-DNA-IRT approach with a second bloodspot card at 21 days of age for all CFTR mutation heterozygotes and any non-carriers in the top 0.1% for IRT. This second IRT was implemented to avoid sweat testing of infants without persistent hypertrypsinemia, reducing the burden of travel for families. Over nine years (2010–2018), 401,977 infants were screened and CF was confirmed in 76, and a further 28 were deemed CF screen positive inconclusive diagnosis (CFSPID). Day 21 IRT was normal in 880 CFTR mutation carriers who were quoted a very low CF risk and offered optional sweat testing. Only 13% of families opted for sweat testing and a total of 1036 sweat tests were avoided. There were six false negative CF cases (and three CFSPID) due to a low initial IRT or no CFTR mutations. Although one CFSPID case had a normal repeat IRT result, the addition of the day 21 IRT did not contribute to any CF false negatives. View Full-Text
Keywords: cystic fibrosis; newborn screening; immunoreactive trypsinogen; British Columbia; sweat test; false negative; CFTR cystic fibrosis; newborn screening; immunoreactive trypsinogen; British Columbia; sweat test; false negative; CFTR
Show Figures

Figure 1

MDPI and ACS Style

Sinclair, G.; McMahon, V.; Schellenberg, A.; Nelson, T.N.; Chilvers, M.; Vallance, H. Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia. Int. J. Neonatal Screen. 2020, 6, 46.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop