APPLICATION OF MOLECULAR KARYOTYPING IN PRENATAL DIAGNOSTICS.

Karyotype analysis, fluorescence in situ hybridization (FISH) and microarray comparative genomic hybridization (array CGH) are currently the mainstay of invasive prenatal diagnosis of chromosomal abnormalities. Currently, array CGH is recommended by scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities. The aim of this study was to present the results of array CGH in prenatal diagnosis. In this retrospective study, a total of 348 amniotic fluid samples from pregnant women with various indications were collected between 2018 and 2023. A total of 348 karyotypes were performed, together with 63 FISH and 43 array CGH analyses. The median maternal age was 33 range 21 – 44 years and the median gestational week was 19 range 13 – 37 weeks. The most common indication for array CGH was sonographic fetal anomaly, which was present in 84% (36/43) of cases. Soft ultrasound markers were observed in 19% (7/36) and hard markers in 81% (29/36) of cases. Abnormal molecular karyotype results were found in 18% (8/43) of the participants. Our results suggest that the use of the microarray method improves the detection rate of pathogenic single-copy losses in fetuses with sonographic abnormalities, although counselling prior to analysis is crucial. [ABSTRACT FROM AUTHOR]