title: Significance of chromosomal aberrations for the unsuccessful procedures of assisted reproduction.
abstract: Lymphocyte cultures from patients who had previously undergone at least three unsuccessful procedures of assisted reproduction were analysed for cytogenetic abnormalities. A total of 12,657 metaphases from 33 individuals (15 patients and 18 healthy controls with two normal offsprings) were studied. A significantly higher incidence (P<0.001) of chromosome aberrations was found in the patients (6.79+/-0.68%; x+/-SD) as compared to the controls (1.72+/-0.3%; P<0.001). Chromosomal breakages, particularly at the centromere region, were also observed with significantly increased frequency in the patients than in the controls (6.18+/-0.65 vs. 1.42+/-0.27%, respectively; P<0.001). It is possible that the high rate of centromere breakages in the ART patients (3.18+/-0.47 vs. 0.26+/-0.12%, P<0.001) may predispose to meiotic chromosomal abnormalities. A single cell aberration was demonstrated in 0.61+/-0.21% of ART patients' lymphocytes versus 0.3+/-0.12% in the controls (P<0.01). Structural rearrangements and chromosomal breaks predominantly affected the bands containing genes for the immune response and the cell cycle. Mosaic karyotypes were found in six patients. One of them had a karyotype 46,XX/46,XX,r(14) and the others had sex chromosomal mosaicisms. The prenatal diagnosis could be essential in these cases. It is concluded that chromosomal aberrations could play a role in the repeated failure of ART procedures.
authors.affiliation: First Department of Obstetrics and Gynecology, Aristotle University, Thessaloniki, Greece.
authors.forename: B C
authors.initials: BC
authors.lastname: Tarlatzis
authors.forename: D I
authors.initials: DI
authors.lastname: Toncheva
authors.forename: I T
authors.initials: IT
authors.lastname: Vatev
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000628:therapy; D007315:Insemination, Artificial; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D012099:Reproductive Techniques; D017211:Treatment Failure; D017388:Zygote Intrafallopian Transfer