Charles Explorer logo
🇬🇧

CHROMOSOMAL ABERRATIONS IN ETIOLOGY OF EARLY REPRODUCTIVE FAILURE: ANALYSIS OF 233 CASES

Publication at Third Faculty of Medicine, First Faculty of Medicine |
2019

Abstract

Chromosomal aberrations are common cause of early miscarriage. Possible presence of chromosomal aberrationmay be assessed by cytogenetic examination of the aborted fetus tissue.

In our study from the Institute of Biologyand Medical Genetics of the First Faculty of Medicine of Charles University and General University Hospital in Praguewe analysed tissue sample from 233 early spontaneous or missed abortions. In 212 cases the cultivation processwas successful.

Among those - we identified 52 cases with chromosomal aberration (24,5 %). Most common aber-rations were - trisomy 21, monosomy X, triploidy and trisomies of chromosomes 16 and 22.

Our overall incidence ofaberrations was lower - compared to similar studies. According to other indicators we suppose that this may be cau-sed by the higher incidence of maternal cells contamination - but this phenomenon cannot be completely excludedwhile using classical karyotyping.

We also confirmed higher incidence of chromosomal aberrations in the miscarriagecases in elder mothers and furthermore we found higher incidence of aberrations in cases from higher gestationweeks. Both trends were statistically significant.