Clinical complications in children with false-negative results in cystic fibrosis newborn screening
Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Chi...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-07-01
|
| Series: | Jornal de Pediatria |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0021755721001698 |
| _version_ | 1811331587888906240 |
|---|---|
| author | Katarzyna Zybert Urszula Borawska-Kowalczyk Lukasz Wozniacki Malwina Dawidziuk Mariusz Ołtarzewski Dorota Sands |
| author_facet | Katarzyna Zybert Urszula Borawska-Kowalczyk Lukasz Wozniacki Malwina Dawidziuk Mariusz Ołtarzewski Dorota Sands |
| author_sort | Katarzyna Zybert |
| collection | DOAJ |
| description | Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 – 31.05.2019. Screening protocols evolved over time from IRT/IRT to IRT/DNA/EGA. Results: The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening. Conclusion: In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory. |
| first_indexed | 2024-04-13T16:22:58Z |
| format | Article |
| id | doaj.art-6b1e6c8eb58747399ac5347c54ad51c5 |
| institution | Directory Open Access Journal |
| issn | 0021-7557 |
| language | English |
| last_indexed | 2024-04-13T16:22:58Z |
| publishDate | 2022-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Jornal de Pediatria |
| spelling | doaj.art-6b1e6c8eb58747399ac5347c54ad51c52022-12-22T02:39:51ZengElsevierJornal de Pediatria0021-75572022-07-01984419424Clinical complications in children with false-negative results in cystic fibrosis newborn screeningKatarzyna Zybert0Urszula Borawska-Kowalczyk1Lukasz Wozniacki2Malwina Dawidziuk3Mariusz Ołtarzewski4Dorota Sands5Institute of Mother and Child, Cystic Fibrosis Department, Warsaw, Poland; Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, PolandInstitute of Mother and Child, Cystic Fibrosis Department, Warsaw, Poland; Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, PolandInstitute of Mother and Child, Cystic Fibrosis Department, Warsaw, Poland; Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, Poland; Corresponding author.Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, PolandInstitute of Mother and Child, Department of Screening and Metabolic Diagnostic, Warsaw, PolandInstitute of Mother and Child, Cystic Fibrosis Department, Warsaw, Poland; Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, PolandObjective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 – 31.05.2019. Screening protocols evolved over time from IRT/IRT to IRT/DNA/EGA. Results: The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening. Conclusion: In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory.http://www.sciencedirect.com/science/article/pii/S0021755721001698Cystic fibrosisNewborn screeningFalse-negativesDiagnosisSweat test |
| spellingShingle | Katarzyna Zybert Urszula Borawska-Kowalczyk Lukasz Wozniacki Malwina Dawidziuk Mariusz Ołtarzewski Dorota Sands Clinical complications in children with false-negative results in cystic fibrosis newborn screening Jornal de Pediatria Cystic fibrosis Newborn screening False-negatives Diagnosis Sweat test |
| title | Clinical complications in children with false-negative results in cystic fibrosis newborn screening |
| title_full | Clinical complications in children with false-negative results in cystic fibrosis newborn screening |
| title_fullStr | Clinical complications in children with false-negative results in cystic fibrosis newborn screening |
| title_full_unstemmed | Clinical complications in children with false-negative results in cystic fibrosis newborn screening |
| title_short | Clinical complications in children with false-negative results in cystic fibrosis newborn screening |
| title_sort | clinical complications in children with false negative results in cystic fibrosis newborn screening |
| topic | Cystic fibrosis Newborn screening False-negatives Diagnosis Sweat test |
| url | http://www.sciencedirect.com/science/article/pii/S0021755721001698 |
| work_keys_str_mv | AT katarzynazybert clinicalcomplicationsinchildrenwithfalsenegativeresultsincysticfibrosisnewbornscreening AT urszulaborawskakowalczyk clinicalcomplicationsinchildrenwithfalsenegativeresultsincysticfibrosisnewbornscreening AT lukaszwozniacki clinicalcomplicationsinchildrenwithfalsenegativeresultsincysticfibrosisnewbornscreening AT malwinadawidziuk clinicalcomplicationsinchildrenwithfalsenegativeresultsincysticfibrosisnewbornscreening AT mariuszołtarzewski clinicalcomplicationsinchildrenwithfalsenegativeresultsincysticfibrosisnewbornscreening AT dorotasands clinicalcomplicationsinchildrenwithfalsenegativeresultsincysticfibrosisnewbornscreening |