title: Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.
abstract: Uniparental disomy (UPD) has been shown to be rare in human normal blastocysts, but its frequency in discarded morphologically abnormal embryos and its relevance to embryonic self-correction of aneuploid remains unknown. The aim of this study was to detect UPD in discarded morphologically abnormal embryos. Both discarded morphologically abnormal embryos, including zero-pronuclear zygotes (0PN), one-pronuclear zygotes (1PN), three-pronuclear zygotes (3PN) and 2PN embryos scored as low development potential were cultured into blastocysts then underwent trophectoderm biopsy. Genome-wide UPD screening of the trophectoderm of 241 discarded morphologically abnormal embryo sourced blastocysts showed that UPD occurred in nine embryos. Five embryos exhibited UPDs with euploid chromosomes, and four displayed UPDs with chromosomal aneuploid. The percentage of UPDs among the morphologically abnormal sourced blastocysts was 3.73%, which is significant higher than the percentage observed in normal blastocysts. The frequency of UPD in 3PN-sourced blastocysts was 7.69%, which is significantly higher than that in normal blastocysts. This study provides the first systematic genome-wide profile of UPD in discarded morphologically abnormal embryos. Our results indicated that UPD may be a common phenomenon in discarded morphologically abnormal embryos and may be relevant to human embryonic self-correction.
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Jiawei
authors.initials: J
authors.lastname: Xu
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Meixiang
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Wenbin
authors.initials: W
authors.lastname: Niu
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Guidong
authors.initials: G
authors.lastname: Yao
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Bo
authors.initials: B
authors.lastname: Sun
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Bao
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Linlin
authors.initials: L
authors.lastname: Wang
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Linqing
authors.initials: L
authors.lastname: Du
authors.affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Yingpu
authors.initials: Y
authors.lastname: Sun
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D004247:DNA / Q000097:blood; D004622:Embryo, Mammalian / Q000002:abnormalities*; D005260:Female; D015894:Genome, Human; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015203:Reproducibility of Results; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004247:DNA