Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility.

Objective To test the hypothesis that telomere shortening and/or loss are risk factors for infertility. Design Retrospective analysis of the telomere status in patients with infertility using conventional cytogenetic data collected prospectively. Setting Academic centers. Patient(s) Cytogenetic slides with cultured peripheral lymphocytes from 50 patients undergoing fertility treatment and 150 healthy donors, including 100 donors matched for age. Intervention(s) Cytogenetic slides were used to detect chromosomal and telomere aberrations. Main Outcome Measure(s) Telomere length and telomere aberrations were analyzed after telomere and centromere staining. Result(s) The mean telomere length of patients consulting for infertility was significantly less than that of healthy donors of similar age. Moreover, patients with infertility showed significantly more extreme telomere loss and telomere doublet formation than healthy controls. Telomere shortening and/or telomere aberrations were more pronounced in patients with structural chromosomal aberrations. Dicentric chromosomes were identified in 6/13 patients, with constitutional chromosomal aberrations leading to chromosomal instability that correlated with chromosomal end-to-end fusions. Conclusion(s) Our findings demonstrate the feasibility of analyzing telomere aberrations in addition to chromosomal aberrations, using cytogenetic slides. Telomere attrition and/or dysfunction represent the main common cytogenetic characteristic of patients with infertility, leading to potential implications for fertility assessment. Pending further studies, these techniques that correlate the outcome of assisted reproduction and telomere integrity status may represent a novel and useful diagnostic and/or prognostic tool for medical care in this field.