Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany
| Autor: | Martina U. Muckenthaler, Manfred Gahr, Margit Happich, Georg F. Hoffmann, Jutta Hammermann, Mirjam Stahl, Dirk Kohlmueller, Martin Lindner, Olaf Sommerburg, Marina Stopsack, Marcus A. Mall, Andreas E. Kulozik |
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| Rok vydání: | 2015 |
| Předmět: |
Pulmonary and Respiratory Medicine
Pediatrics medicine.medical_specialty Percentile Newborn screening medicine.diagnostic_test business.industry Sweat chloride PAP protocol medicine.disease Screening Result behavioral disciplines and activities Cystic fibrosis Predictive value Pediatrics Perinatology and Child Health medicine Immunoreactive trypsinogen business psychological phenomena and processes |
| Zdroj: | Pediatric Pulmonology. 50:655-664 |
| ISSN: | 8755-6863 |
| DOI: | 10.1002/ppul.23190 |
| Popis: | Summary Background Evidence from recent studies suggests that IRT/PAP protocols may be successfully used as a purely biochemical newborn screening (NBS) for cystic fibrosis (CF) that does not require genetic screening. However, the experience with the performance of different IRT/PAP protocols remains limited. In this study, we evaluated the performance of IRT/PAP-based CF-NBS used in two German regions between 2008 and 2013 in a large cohort. Methods In both regions slightly different IRT/PAP protocols were used to screen newborns for CF. In contrast to the original IRT/PAP protocol published by Sarles et al., both German protocols contained an IRT-dependent safety net strategy (CF-NBS positive, if IRT≥99.9th percentile). Positive rating of the screening result led to confirmatory diagnostics using sweat chloride testing and clinical assessment. Findings A total of 328,181 newborns were tested with IRT/PAP in Germany within 5 years. 639 of these newborns (0.19%) were tested positive, and 60 infants were diagnosed with CF leading to a sensitivity of 0.968 and a PPV (positive predictive value) of 0.097. Compared to IRT/DNA protocols, the PPV of IRT/PAP is lower, but PAP used as second tier test has the advantage of a lower detection rate of healthy carriers and CF patients with equivocal results. Conclusions Our results obtained in a large cohort of ∼330,000 newborns support the use of a purely biochemical IRT/PAP protocol as an acceptable alternative when genetic CF-NBS has to be avoided. Pediatr Pulmonol. 2015; 50:655–664. © 2015 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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