title: Preimplantation diagnosis after assisted reproduction techniques for genetically-determined male infertility.
abstract: One hundred and thirty-six cycles with a poor prognosis for full-term pregnancy underwent preimplantation genetic diagnosis (PGD) of aneuploidy. The mean maternal age was 31.8 +/- 2.5 years. Only patients younger than 36 years were included in the study with the aim of evaluating whether sperm indices have an effect on the chromosomal constitution of preimplantation embryos. No differences were detected in the percentage of aneuploid embryos; however a higher incidence of monosomies and trisomies was found in MESA-TESE embryos compared to the group of normospermic patients. In addition, an increase in the proportion of gonosomal aneuploidy seemed to be associated with the severity of the male factor parameters. The rate of de-novo chromosomal abnormalities in embryos from patients with a normal karyotype suggested an increased frequency proportional to the severity of the male factor condition, the proportion of monosomic and trisomic embryos, and the percentage of gonosomal aneuploidy increased accordingly. In the case of couples with a male altered karyotype, comparable frequency of chromosomally abnormal embryos, and monosomy and trisomy were observed irrespective of semen indices, gonosomal aneuploidy was only observed in one case where the patient had a karyotype with gonosomal mosaicism. These data confirm that the severe male infertility condition determines an increase in the rate of de-novo abnormalities, as anticipate by the follow-up of the children born after ICSI.
authors.affiliation: S.I.S.ME.R., Reproductive Medicine Unit, Bologna, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Gianaroli
authors.forename: M C
authors.initials: MC
authors.lastname: Magli
authors.forename: A P
authors.initials: AP
authors.lastname: Ferraretti
authors.forename: E
authors.initials: E
authors.lastname: Iammarrone
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001755:Blastocyst / Q000502:physiology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D015994:Incidence; D007248:Infertility, Male / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D009030:Mosaicism; D019836:Preimplantation Diagnosis; D012016:Reference Values; D012099:Reproductive Techniques; D012720:Severity of Illness Index; D014178:Translocation, Genetic; D014314:Trisomy