Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study
Objectives To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance re...
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BMJ Publishing Group
2025-01-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/15/1/e092209.full |
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| author | Maria Fuller Jasmina Markulić |
| author_facet | Maria Fuller Jasmina Markulić |
| author_sort | Maria Fuller |
| collection | DOAJ |
| description | Objectives To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.Design A retrospective study over a 5-year period (January 2018–December 2022).Setting A single pathology service in South Australia.Participants A total of 1909 CF test referrals from patients with clinical suspicion indicated by respiratory and gastrointestinal manifestations, foetal echogenic bowel and male infertility and asymptomatic CF requests for reproductive carrier screening.Primary and secondary outcome measures The number and type of CFTR gene variants detected in symptomatic and asymptomatic testing referrals.Results A total of 25 patients were diagnosed with CF or CF-related disorders (2.5%) with gastrointestinal symptoms yielding the highest diagnostic rate of 4.4%. Additionally, a total of 79 carriers (4.1%) were identified uncovering a carrier frequency of 1 in 24, which is consistent with the 1 in 25 reported in the Caucasian population. CF was found to be causative of foetal echogenic bowel in 0.83% of cases.Conclusions This study highlights the importance of considering CF in symptomatic patients, even in a nation with >99% of newborns screened for CF. Additionally, the identification of CF in this population supports the recommendation for CF genetic testing in reproductive healthcare. |
| format | Article |
| id | doaj-art-96f131717e02483489321be8817bd713 |
| institution | Kabale University |
| issn | 2044-6055 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMJ Publishing Group |
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| series | BMJ Open |
| spelling | doaj-art-96f131717e02483489321be8817bd7132025-02-03T11:45:11ZengBMJ Publishing GroupBMJ Open2044-60552025-01-0115110.1136/bmjopen-2024-092209Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective studyMaria Fuller0Jasmina Markulić11 Genetics and Molecular Pathology, SA Pathology at Women`s and Children`s Hospital, North Adelaide, South Australia, Australia1 Genetics and Molecular Pathology, SA Pathology, North Adelaide, South Australia, AustraliaObjectives To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.Design A retrospective study over a 5-year period (January 2018–December 2022).Setting A single pathology service in South Australia.Participants A total of 1909 CF test referrals from patients with clinical suspicion indicated by respiratory and gastrointestinal manifestations, foetal echogenic bowel and male infertility and asymptomatic CF requests for reproductive carrier screening.Primary and secondary outcome measures The number and type of CFTR gene variants detected in symptomatic and asymptomatic testing referrals.Results A total of 25 patients were diagnosed with CF or CF-related disorders (2.5%) with gastrointestinal symptoms yielding the highest diagnostic rate of 4.4%. Additionally, a total of 79 carriers (4.1%) were identified uncovering a carrier frequency of 1 in 24, which is consistent with the 1 in 25 reported in the Caucasian population. CF was found to be causative of foetal echogenic bowel in 0.83% of cases.Conclusions This study highlights the importance of considering CF in symptomatic patients, even in a nation with >99% of newborns screened for CF. Additionally, the identification of CF in this population supports the recommendation for CF genetic testing in reproductive healthcare.https://bmjopen.bmj.com/content/15/1/e092209.full |
| spellingShingle | Maria Fuller Jasmina Markulić Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study BMJ Open |
| title | Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study |
| title_full | Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study |
| title_fullStr | Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study |
| title_full_unstemmed | Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study |
| title_short | Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study |
| title_sort | diagnostic yield of cystic fibrosis from a south australian monocentric cohort a retrospective study |
| url | https://bmjopen.bmj.com/content/15/1/e092209.full |
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