Stručni rad
https://doi.org/10.21860/medflum2026_349326
Prenatal Diagnostics in Rijeka, 2018−2025
Tea Mladenić
; Sveučilište u Rijeci , Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
Anita Barišić
; Klinički bolnički centar Rijeka, Klinika za ginekologiju i opstetriciju, Rijeka, Hrvatska
Luca Lovrečić
; University Medical Center Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia
Nuša Trošt
; University Medical Center Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia
Tea Štimac
; Klinički bolnički centar Rijeka, Klinika za ginekologiju i opstetriciju, Rijeka, Hrvatska
Aleks Finderle
; Klinički bolnički centar Rijeka, Klinika za ginekologiju i opstetriciju, Rijeka, Hrvatska
Jelena Ivandić
; Klinički bolnički centar Rijeka, Klinika za ginekologiju i opstetriciju, Rijeka, Hrvatska
Marko Klarić
; Klinički bolnički centar Rijeka, Klinika za ginekologiju i opstetriciju, Rijeka, Hrvatska
Karla Klokočki
; Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska
Laura Negrić
; Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska
Borut Peterlin
; University Medical Center Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia
Jadranka Vraneković
; Sveučilište u Rijeci , Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
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* Dopisni autor.
Sažetak
Aim: Prenatal care focused on the detection of chromosomal aberrations encompasses both non-invasive and invasive methods. Non-invasive methods are available to all pregnant women and serve to identify those at increased risk for specific chromosomal disorders, thereby providing an indication for invasive diagnostic procedures. The aim of this study was to present an overview of cytogenetic prenatal diagnostics in Rijeka from January 2018 to December 2025. Patient and Methods: Amniotic fluid samples were collected by amniocentesis, 450 samples for karyotype analysis, of which 140 samples were analyzed by fluorescence in situ hybridization and 67 molecular karyotype analysis. Results: A normal FISH result was observed in 66% of samples, while aneuploidy was detected in 34%, with trisomy 21 being the most frequent finding. An abnormal molecular karyotype was identified in 13% of samples. The most common indications for prenatal diagnostics were abnormal ultrasound findings and positive results from non-invasive screening tests (43 %). Conclusions: The results underscore the importance of combining screening and diagnostic approaches in prenatal care for the timely detection of chromosomopathies.
Ključne riječi
chromosome aberrations, cytogenetic analysis, prenatal diagnosis
Hrčak ID:
349326
URI
Datum izdavanja:
1.9.2026.
Posjeta: 0 *