Purpose: We aimed to analyze the pregnancy outcomes and perinatal follow-up of mosaic embryo transfer in the preimplantation genetic testing (PGT) cycles. Method: We retrospectively selected 27 mosaic embryo transfer ...Purpose: We aimed to analyze the pregnancy outcomes and perinatal follow-up of mosaic embryo transfer in the preimplantation genetic testing (PGT) cycles. Method: We retrospectively selected 27 mosaic embryo transfer cycles as the study group and 97 euploid embryo transfer cycles as the control group after propensity score matching, which were performed in the reproductive medicine center of the Sixth Affiliated Hospital, Sun Yat-sen University, from March 2019 to September 2023. The biopsy cells from blastocyst were undertaken next generation sequencing (NGS). Results: No significant difference in pregnancy outcomes compared between the two groups. According to the size of aneuploid, fragment the level of mosaicism or blastocyst morphological gradings, there were no significant difference in mosaic embryo transfers. Conclusion: Mosaic embryo detected in the PGT cycle can lead to clinical pregnancy and live birth of healthy offspring, which can be considerate suitable for transfer.展开更多
Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insuffic...Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insufficient.Here,we applied single-cell multi-omics sequencing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromosome ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seemingly random locations at a frequency of 0%-2.5%per infant.However,none of the cells showed CNAs that were the same as those of the corresponding TE biopsies.The blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells during development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE biopsies.The results provide a new reference for the evaluations of transferring chromosomal mosaic embryos in certain situations.展开更多
文摘Purpose: We aimed to analyze the pregnancy outcomes and perinatal follow-up of mosaic embryo transfer in the preimplantation genetic testing (PGT) cycles. Method: We retrospectively selected 27 mosaic embryo transfer cycles as the study group and 97 euploid embryo transfer cycles as the control group after propensity score matching, which were performed in the reproductive medicine center of the Sixth Affiliated Hospital, Sun Yat-sen University, from March 2019 to September 2023. The biopsy cells from blastocyst were undertaken next generation sequencing (NGS). Results: No significant difference in pregnancy outcomes compared between the two groups. According to the size of aneuploid, fragment the level of mosaicism or blastocyst morphological gradings, there were no significant difference in mosaic embryo transfers. Conclusion: Mosaic embryo detected in the PGT cycle can lead to clinical pregnancy and live birth of healthy offspring, which can be considerate suitable for transfer.
基金the National Key R&D Program of China(Grant No.2018YFC1003100).
文摘Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insufficient.Here,we applied single-cell multi-omics sequencing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromosome ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seemingly random locations at a frequency of 0%-2.5%per infant.However,none of the cells showed CNAs that were the same as those of the corresponding TE biopsies.The blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells during development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE biopsies.The results provide a new reference for the evaluations of transferring chromosomal mosaic embryos in certain situations.
