Chromosome aberrations in 500 couples referred for in-vitro fertilization or related fertility treatment

Cytogenetic studies were performed in 500 couples referred forin-vitro fertilization or gamete (zygote) intra-Fallopian transfer.Thirteen individuals (1.3%) with chromosomal abnormalities werefound. Four major types of anomalies were observed: reciprocaltranslocations (n = 3), inversions (n = 2), iso-Xq chromosomes(n = 2) and sex chromosome number mosaics (n = 4). Moreovertwo males with respectively a 47,XYY and a 47,XY, mar⁺ karyotypewere identified. These data pointed to a higher incidence ofchromosomal aberrations in this infertile population as comparedto a neonatal population without obvious chromosomal pathology.Analysis of the chromosomes which were involved in hyperdiploidyand hypodiploidy in the 30 000 metaphases evaluated, showeda high proportion of cells that had lost or gained an X-chromosome.A puzzling finding was the statistically significant low incidenceof 45,X metaphases (0.9) in women of couples treated on andrological indication as compared to the frequencyof 45,X chromosome complements in women with tubal disease (4.0) or of couples with an idiopathic (4.3) or mixed female and male (6.7) indication.