[en] [en] UNLABELLED: Newborn screening for cystic fibrosis (CF-NBS) using an IRT-DNA algorithm with a 12 CFTR-variant panel and an IRT/IRT failsafe was officially implemented in the French-speaking Community of Belgium in January 2020. This screening protocol was evaluated after 4 years according to the criteria defined by the European Cystic Fibrosis Society's working group on neonatal screening. Immunoreactive trypsinogen concentration (IRT) was measured on dried blood spots collected between the second and the fourth day of life. CFTR variants genotyping was initiated when IRT ≥ 99th percentile (P99). If at least 1 variant was identified, the child was referred to a CF center for a sweat test (ST). If IRT ≥ 99.9th percentile with no variant identified, a failsafe was provided with IRT repeated on day 21 and subsequent ST in case of persistent IRT > P99. Extensive Gene Analysis was initiated if sweat chloride level was ≥ 30 mmol/L. Over a period of 4 years, 212.979 newborns were screened. Forty-two were diagnosed with CF: 34 by CF-NBS, 3 following a meconium ileus, 3 by family history and 2 missed cases. Additionally, 112 healthy carriers and 14 CFSPID were identified. The median age at the first consultation was 23 days. The sensitivity of our CF-NBS is 95% (target ≥ 95%), the positive predictive value 18% (target ≥ 30%) and CF/CFSPID ratio 2.8.
CONCLUSION: Although follow-up is limited, this first evaluation demonstrates encouraging sensitivity and early management before one month of age.
WHAT IS KNOWN: • Newborn screening for cystic fibrosis improves the prognosis of patients.
WHAT IS NEW: • This article presents an initial assessment of our screening after 4 years.
Disciplines :
Genetics & genetic processes
Author, co-author :
Thimmesch, M; Department of Pediatric Pulmonology and Cystic Fibrosis, Centre Hospitalier Chrétien MontLégia, Liège, Belgium. matthieu.thimmesch@gmail.com
Berardis, S; Department of Pediatric Pulmonology and Cystic Fibrosis, Cliniques universitaires Saint-Luc, Brussels, Belgium
Hanssens, L; Department of Pediatric Pulmonology and Cystic Fibrosis, Hôpital Universitaire des enfants Reine Fabiola, Brussels, Belgium
Quentin, C; Department of Pediatric Pulmonology and Cystic Fibrosis, Hôpital Universitaire des enfants Reine Fabiola, Brussels, Belgium
Boemer, François ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale
LUIS, Géraldine ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Dewulf, J P; Biochemical Genetics and Newborn Screening Laboratory, Department of Clinical Chemistry, Cliniques Universitaires Saint-Luc, Brussels, Belgium
Marie, S; Biochemical Genetics and Newborn Screening Laboratory, Department of Clinical Chemistry, Cliniques Universitaires Saint-Luc, Brussels, Belgium
Marcelis, L; Laboratory of Pediatric Research - Brussels Newborn Screening Center, Université libre de Bruxelles, Brussels, Belgium
Lefèvre, Nicolas; Hôpital Universitaire des enfants Reine Fabiola, Brussels, Belgium > Department of Pediatric Pulmonology and Cystic Fibrosis,
LIBIOULLE, Cécile ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Dideberg, Vinciane ; Université de Liège - ULiège > Département des sciences cliniques
Philippeau, M; Molecular biology laboratory, Center for Human Genetics, Cliniques universitaires Saint-Luc, Brussels, Belgium
Revencu, N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Brussels, Belgium
Boboli, Hedwige ; Université de Liège - ULiège > Département des sciences cliniques
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