Prevalence of XXY karyotypes in human blastocysts: multicentre data from 7549 trophectoderm biopsies obtained during preimplantation genetic testing cycles in IVF

AbstractSTUDY QUESTIONWhich is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles?SUMMARY ANSWERThe prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%.WHAT IS KNOWN ALREADYThe prevalence of Klinefelter syndrome is estimated as 0.1 –0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected. No risk factor for the 47,XXY karyotype in products of conception has been yet clearly defined, and no data are available regarding the p revalence of this karyotype among human preimplantation embryos.STUDY DESIGN, SIZE, DURATIONThis multicentre cohort study involved 7549 blastocysts obtained during 2826 PGT-A cycles performed between April 2013 and September 2017 at six IVF clinics in Italy.PARTICIPANTS/MATERIALS, SETTING, METHODSDuring 2826 PGT-A cycles, 7549 blastocysts underwent trophectoderm biopsy and quantitative-PCR-based comprehensive chromosomal testing to predict the karyotype of the corresponding embryos. The results were also presented according to ranges of maternal and paternal age at oocyte retrieval as well as sperm factor and blastocyst quality. Univariate and multivariate logistic regression analyses were conducted to investigate the correlation of possible confounding factors with the prevalence of 47,XXY karyotype.MAIN RESULTS, THE ROLE OF...
Source: Human Reproduction - Category: Reproduction Medicine Source Type: research