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.
Highlights
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
Uniparental disomy (UPD) occurs when two identical or homologous chromosomes are inherited from one parent[1]
We represented the largest sample of morphologically abnormal sourced blastocysts to evaluate the occurrence of UPD
Summary
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. A mosaic exists in developing embryos[13], and the proportion of UPD may reflect the scale of the formerly chromosome mosaic Based on this theory, significant chromosome abnormalities may cause embryonic developmental arrest even after self-correction. To determine whether UPD is a common phenomenon in discarded morphologically abnormal embryos, we performed SNP microarray-based 24 chromosome aneuploidy screening in embryos to determine the overall frequency of UPD in a large number of blastocysts developed from discarded morphologically abnormal embryos, which may support the hypothesis that UPD is a possible outcome of putative embryo self-correction
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