Academic Journal
Genetic profiling enhances cystic fibrosis prenatal diagnosis.
| Τίτλος: | Genetic profiling enhances cystic fibrosis prenatal diagnosis. |
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| Συγγραφείς: | Hosseini Nami A; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.; Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center (KHGRC), Tehran, Iran., Kabiri M; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran., Zafarghandi Motlagh F; Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center (KHGRC), Tehran, Iran., Zeinali R; Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center (KHGRC), Tehran, Iran.; Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran, Iran., Karimi A; Max Planck Institute for Brain Research, Frankfurt am Main, Germany., Aslani S; Temerty Faculty of Medicine, University of Toronto, Toronto, Canada., Zeinali S; Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center (KHGRC), Tehran, Iran. zeinali@gmail.com. |
| Πηγή: | Scientific reports [Sci Rep] 2026 Jun 13; Vol. 16 (1). Date of Electronic Publication: 2026 Jun 13. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : Nature Publishing Group, copyright 2011- |
| Ιατρικοί όροι (MeSH): | Cystic Fibrosis*/genetics , Cystic Fibrosis*/diagnosis , Prenatal Diagnosis*/methods , Cystic Fibrosis Transmembrane Conductance Regulator*/genetics , Genetic Profile*, Genetic Testing/methods ; Humans ; Female ; Pregnancy ; Mutation ; Haplotypes ; Pedigree |
| Περίληψη: | Prenatal testing is a standard approach for detecting genetic diseases in expectant mothers, with more testing options becoming available. Homozygosity mapping is invaluable for identifying genes causing disease and improving molecular diagnostics. Here, we present the prenatal diagnosis outcomes of three families affected by cystic fibrosis (CF). A combination of phenotypic analysis, haplotype analysis, and CFTR gene sequencing was used to identify the causative mutations. This allowed for the effective detection of individuals misdiagnosed with routine screening procedures. A method that is potentially useful for similar autosomal recessive disorders. Our findings indicate that enhanced diagnostic accuracy enables earlier clinical interventions that lead to better management of affected pregnancies and improved neonatal care. We show the significance of comprehensive genetic testing to boost diagnostic accuracy for recessive diseases and minimize the risk of diagnostic errors in prenatal settings. (© 2026. The Author(s).) |
| Competing Interests: | Declarations. Competing interests: The authors have no conflicts of interest to declare. Prof. Sirous Zeinali is a Kawsar Human Genetics Research Center board member in Tehran, Iran. He is also the founder and CEO of Genetek Biopharma GmbH in Germany. Even though we have used Genetek Biopharma products in this study, the manuscript does not advertise the kits or imply their superiority in any way. All other authors declare that they have no conflict of interest. |
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| Contributed Indexing: | Keywords: Autosomal recessive disorder; Cystic fibrosis; Pediatric respiratory genetics; Prenatal diagnosis; Respiratory diseases; Short tandem repeat profiling |
| Substance Nomenclature: | 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) 0 (CFTR protein, human) |
| Entry Date(s): | Date Created: 20260613 Date Completed: 20260827 Latest Revision: 20260830 |
| Update Code: | 20260830 |
| PubMed Central ID: | PMC13522470 |
| DOI: | 10.1038/s41598-026-39400-y |
| PMID: | 42288560 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 2045-2322 |
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| DOI: | 10.1038/s41598-026-39400-y |