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    Comparison of conventional karyotype analysis and CMA results with ultrasound findings in pregnancies with normal QF-PCR results
    (GALENOS PUBL HOUSE, 2025) Bütün, Z; Kayapınar, M; Şenol, G; Akca, E; Gökalp, EE; Artan, S
    Objective: In cases requiring fetal diagnostic testing, conventional karyotype analysis is initially preferred. However, quantitative fluorescent-polymerase chain reaction (QF-PCR) or fluorescent in situ hybridization methods are used alongside conventional karyotype analysis to obtain rapid results. If results cannot be obtained from conventional karyotype analysis, chromosomal microarray analysis (CMA) is a reasonable option in necessary cases. In this study, we analyzed the conventional karyotype and CMA results from pregnancies reported as having normal karyotypes by QF-PCR and assessed their correlation with ultrasound imaging results. Materials and Methods: Between 2020 and 2023, pregnant women with fetal structural anomalies detected by ultrasound and magnetic resonance imaging at the Eski & scedil;ehir City Hospital, Clinic of Perinatology were referred to our prenatal diagnosis center. In samples obtained using appropriate diagnostic methods, QR-PCR and conventional karyotype analysis were performed initially. Pregnancies with chromosomal anomalies detected by QF-PCR were excluded from the study. For pregnancies with normal karyotypes, CMA was applied. Results: In 203 pregnancies with a normal karyotype result from QF-PCR, 202 (99.5%) were reported as normal in conventional karyotype analysis, while 1 (0.5%) case showed deletion of chromosome 7. Among the remaining pregnancies, CMA examination revealed abnormal karyotype results in 25 (12.3%) cases. A relationship was found only between ventriculomegaly detected by ultrasound and CMA results. The prevalence of ventriculomegaly was higher in those with CMA abnormalities (16%) compared to those with normal CMA (4.5%), and this difference was statistically significant (p=0.045). Conclusion: The benefit of CMA analysis in detecting chromosomal anomalies such as copy number variations, especially in cases reported as having a normal karyotype by QF-PCR and karyotype analysis, is evident. To evaluate the relationship between ultrasound anomalies and CMA results, each community should assess its own results.