Comparison of conventional karyotype analysis and CMA results with ultrasound findings in pregnancies with normal QF-PCR results

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dc.contributor.authorBütün, Z
dc.contributor.authorKayapınar, M
dc.contributor.authorŞenol, G
dc.contributor.authorAkca, E
dc.contributor.authorGökalp, EE
dc.contributor.authorArtan, S
dc.date.accessioned2026-03-31T13:21:06Z
dc.date.available2026-03-31T13:21:06Z
dc.date.issued2025
dc.description.abstractObjective: 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.
dc.identifier.doi10.4274/tjod.galenos.2025.10673
dc.identifier.issn2149-9322
dc.identifier.issn2149-9330
dc.identifier.issue2
dc.identifier.pmid40462392
dc.identifier.urihttp://dx.doi.org/10.4274/tjod.galenos.2025.10673
dc.identifier.urihttps://hdl.handle.net/11491/9539
dc.identifier.volume22
dc.identifier.wosWOS:001506858900001
dc.language.isoen
dc.publisherGALENOS PUBL HOUSE
dc.relation.ispartofTURK J OBSTET GYNECO
dc.subjectChromosomal microarray analysis
dc.subjectconventional karyotyping
dc.subjectfetal anomalies
dc.subjectquantitative fluorescent polymerase chain reaction
dc.titleComparison of conventional karyotype analysis and CMA results with ultrasound findings in pregnancies with normal QF-PCR results
dc.typeArticle

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