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Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.

Xu J, Zhang M, Niu W, Yao G, Sun B, Bao X, Wang L, Du L, Sun Y - Sci Rep (2015)

Bottom Line: 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.Our results indicated that UPD may be a common phenomenon in discarded morphologically abnormal embryos and may be relevant to human embryonic self-correction.

View Article: PubMed Central - PubMed

Affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.

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.

No MeSH data available.


SNP array results for nine cases with UPDs.All of the results represent limited-cell data obtained following whole-chromosome amplification of embryo biopsy samples. a. case 6, b. case 7, c. case 8, d. case 9.
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f5: SNP array results for nine cases with UPDs.All of the results represent limited-cell data obtained following whole-chromosome amplification of embryo biopsy samples. a. case 6, b. case 7, c. case 8, d. case 9.

Mentions: We identified 9 (3.73%) blastocysts contained isodisomy based on previously described criteria (Table 2). Among these embryos, 4 exhibited UPD without chromosome abnormalities. The other 5 embryos presented both UPD and other chromosome aneuploidy. In cases 2, 4B, 6 and 8, more than one chromosome was involved, with 8 chromosomes harbouring 14 UPDs in case 4B, showing a higher frequency genome-wide. Chromosomes 1 and 3 of case 6 exhibited 4 UPDs. In case 8, each chromosome, including the X chromosome, showed UPD. The other cases harboured only one UPD (Figs 4 and 5). The chromosome-specific frequency of UPD was 0.45% (49/11,004). The UPD identified in morphologically abnormal sourced blastocysts occurred most often on chromosomes 1, 3 and 17. The frequency of UPD in discarded morphologically abnormal embryos is significant higher than in normal embryos previously reported. In our study, we screened six 3PN sourced blastocysts, the results showed none were triploidy, indicating that genome-wide higher frequency UPDs may be an outcome of embryos self-correction.


Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.

Xu J, Zhang M, Niu W, Yao G, Sun B, Bao X, Wang L, Du L, Sun Y - Sci Rep (2015)

SNP array results for nine cases with UPDs.All of the results represent limited-cell data obtained following whole-chromosome amplification of embryo biopsy samples. a. case 6, b. case 7, c. case 8, d. case 9.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4508668&req=5

f5: SNP array results for nine cases with UPDs.All of the results represent limited-cell data obtained following whole-chromosome amplification of embryo biopsy samples. a. case 6, b. case 7, c. case 8, d. case 9.
Mentions: We identified 9 (3.73%) blastocysts contained isodisomy based on previously described criteria (Table 2). Among these embryos, 4 exhibited UPD without chromosome abnormalities. The other 5 embryos presented both UPD and other chromosome aneuploidy. In cases 2, 4B, 6 and 8, more than one chromosome was involved, with 8 chromosomes harbouring 14 UPDs in case 4B, showing a higher frequency genome-wide. Chromosomes 1 and 3 of case 6 exhibited 4 UPDs. In case 8, each chromosome, including the X chromosome, showed UPD. The other cases harboured only one UPD (Figs 4 and 5). The chromosome-specific frequency of UPD was 0.45% (49/11,004). The UPD identified in morphologically abnormal sourced blastocysts occurred most often on chromosomes 1, 3 and 17. The frequency of UPD in discarded morphologically abnormal embryos is significant higher than in normal embryos previously reported. In our study, we screened six 3PN sourced blastocysts, the results showed none were triploidy, indicating that genome-wide higher frequency UPDs may be an outcome of embryos self-correction.

Bottom Line: 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.Our results indicated that UPD may be a common phenomenon in discarded morphologically abnormal embryos and may be relevant to human embryonic self-correction.

View Article: PubMed Central - PubMed

Affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.

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.

No MeSH data available.