| Autor: |
Bengisu Guner Yilmaz, Ozlem Akgun-Dogan, Ozkan Ozdemir, Bayram Yuksel, Ozden Hatirnaz Ng, Kaya Bilguvar, Beril Ay, Gulsah Sebnem Ozkose, Eylul Aydin, Ayca Yigit, Aybike Bulut, Fatma Nisa Esen, Serdar Beken, Selma Aktas, Atalay Demirel, Baran Cengiz Arcagok, Ebru Kazanci, İbrahim Bingol, Ozge Umur, Guntulu Sik, Ugur Isik, Melike Ersoy, Ayse Korkmaz, Agop Citak, Adil Mardinoglu, Ugur Ozbek, Yasemin Alanay |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Frontiers in Pediatrics, Vol 12 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2296-2360 |
| DOI: |
10.3389/fped.2024.1412880 |
| Popis: |
IntroductionRare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding in early clinical management and reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation sequencing (NGS) as a diagnostic instrument for critically ill neonatal and pediatric ICU patients in a Turkish hospital setting.MethodsTen infants were enrolled based on predefined inclusion criteria, and trio RGS was performed. The mean age of the participants was 124 days, with congenital abnormalities being the most common indication for testing. Three patients had consanguineous parents. The mean turnaround time from enrollment to delivery of results was 169 h, with a diagnostic yield of 50%.ResultsThree patients received a definitive molecular diagnosis, impacting their clinical management. Two patients benefited from the exclusion of Mendelian conditions, leading to alternative diagnoses.DiscussionThis study demonstrates the feasibility and results of RGS in Turkish hospital settings, emphasizing the importance of timely genetic diagnosis in reducing the diagnostic odyssey for families and improving patient care. Further research is needed to evaluate the cost-effectiveness and applicability of RGS in the Turkish healthcare system for children with diseases of uncertain etiology. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
