Y-chromosome microdeletions and recurrent pregnancy loss

ObjectiveTo determine the prevalence of Y-chromosome microdeletions in recurrent pregnancy loss (RPL) couples as compared with couples with male factor infertility and fertile couples.DesignControlled clinical study.SettingAndrology laboratory and RPL clinic.Patient(s)Seventeen men from RPL couples, 18 men from couples with a live birth and no history of miscarriages, and 10 men from couples with male factor infertility.Intervention(s)Buccal smears for Y-chromosome microdeletion testing.Main Outcome Measure(s)The DNA was tested for microdeletions in the proximal AZFc region by polymerase chain reaction (PCR).Result(s)Fourteen of the 17 men (82%) tested had microdeletions in one or more of the four segments studied. Two of the 10 male factor infertility patients (20%) had microdeletions in 2 different segments. None of the 18 fertile men had any microdeletions in the 4 segments of the proximal AZFc region studied.Conclusion(s)The prevalence of the Y-chromosome microdeletions in the proximal AZFc region was much higher in men from RPL couples than from fertile or infertile couples. Although these patients are from a tertiary referral center that may skew the population and findings, one may consider Y-chromosome microdeletion testing particularly of the AZFc region in the evaluation of RPL couples when all other tests fail to reveal the etiology.