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Cytogenetic and Morphometric Analysis of Placental Cells in Prenatal Diagnostic

Background: In prenatal diagnostic, placental chorionic villi biopsy (chorionic villi sampling – CVS) is used as an invasive method for cytogenetic analysis of fetal chromosomal abnormalities. The success of cytogenetic analysis depends on the amount of villi obtained by biopsy, cultivation process, and the number of metaphases suitable for cytogenetic analysis and reliable experience of the analyzer. The procedure carries a risk of miscarriage, bleeding and other complications. Despite the high sensitivity and specificity of detection of chromosomal aberrations after chorionic villus biopsy, it is not possible in all cases to implement a reliable cytogenetic analysis, and there is a need to introduce additional methods for assessment of fetal aneuploidy. Several analyses of morphometric features of euploid and aneuploid chorionic villi have been performed in experimental models on histological samples. Due to the high incidence of chromosomal aberrations and the availability of sampling material, most investigators use chorionic villi after missed abortion. However, studies and morphometric analysis of normal and aberrant chorionic villi on cytological preparations are rare. Aim: The primary purpose of this study was to verify the hypothesis that fetal chromosomal aberrations are linked to morphometric parameters of trophoblast cell nuclei. Material and Methods: The study was performed on CVS specimens from 50 placentas of the experimental and 50 placentas from the control group, after cytogenetic analysis and determination of fetal chromosomal aberrations. The morphometric analysis was performed by computer image analysis that provides an objective analysis of cell properties. The measured morphometric parameters included: area, volume, minimum and maximum radius, convexity of the area, length, width and shape factors – ‘form-factor’ (ff = 4p area/r2) and ‘elongation form-factor’ (ffelong = length/width), of cell nuclei. Result: The morphometric analysis (system SFORM, Vamstec) showed statistically significant differences between nuclei of normal cells and cells with chromosomal aberrations, as well as between different types of aneuploidy. A moderate negative relationship (P < 0.05) was observed between morphometric parameters of aneuploid syncyciotrophoblast cells and gestational age. Conclusion: In spite of the significant differences observed between normal and aneuploidic cells, high variability of morphometric parameters limits the use of morphometric analysis as a method for reliable differentiation between aberrant and normal cells.

Cytogenetic; Morphometric Analysis; Placental Cells; Prenatal Diagnostic

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