Cytogenetic study in miscarriage

Abstract

A miscarriage is a frequent complication of early pregnancy, with the presence of chromosomal abnormalities described as the main cause. The cytogenetic study is a tool that allows us to detect in samples obtained from spontaneous abortions whether the cause was a chromosomal anomaly and thus provide genetic counseling to the couple. Objective: Analyze results of the cytogenetic study in samples obtained from spontaneous abortions, carried out in the Special Test Laboratory of the La Trinidad Teaching Medical Center (CMDLT), between June 2014 and May 2023. Methods: Observational, descriptive, retrospective and cross-sectional study; The sample was made up of 269 specimens (chorionic villi or fetal tissue) evaluated for cytogenetic study in two groups: material from the CMDLT and extra-institutional. Results: Of the total samples analyzed, 202 (75.1%) came from CMDLT and 67 (24.9%) from other institutions. In the CMDLT samples there was a growth of 95.0% and in those from other institutions there was 85.1%. The average number of days of growth was 14 ± 7 days. The main chromosomal alterations found in order of frequency were: trisomies (68.6%), polyploidy (16.3%), monosomy X (10.4%), mosaic (3.5%). Conclusions: The origin of the material to be evaluated by cytogenetic study with respect to the place where its processing will be carried out influences the success of the culture growth (95% institutional vs. 85% extra-institutional), however, regardless of the origin of the sample, the time growth and the frequency of different chromosomal alterations are consistent with what has been reported in the literature.