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Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos.
J Assist Reprod Genet. 2020 Jul; 37(7):1711-1718.JA

Abstract

PURPOSE

To explore the whole-chromosome status, origins, and mechanisms of chromosomal abnormalities in good-quality cleavage embryos using multiple annealing and looping-based amplification cycle (MALBAC) sequencing.

METHODS

The embryos studied came from7 patients (maternal aged 26-35) who had healthy birth from the same IVF cycles. These 21 frozen day 3 good-quality embryos were thawed and disaggregated into individual blastomere. Each blastomere was collected and analyzed by MALBAC sequencing.

RESULTS

Conclusive results were obtained from a high percentage of blastomeres (95.3%). A total of 46.6% of blastomeres were diploid, 53.4% were abnormal, and 28.0% had complex aneuploidy. Out of 21 embryos, 3 (14.3%) were normal and 18 (85.7%) were mosaics, showing the occurrence of mitotic errors; aneuploidy was confirmed in all cells of 4 of the 18 embryos, which showed the coexistence of meiotic errors. Conclusive results were obtained from all blastomeres of 15 embryos (71.4%, 15/21), which enabled us to reconstruct the cell lineage on the basis of the chromosomal content of the blastomeres in each division. There were 9 mitotic errors (8.7%, 9/103): nondisjunction accounted for 88.9% (8/9), and endoreplication accounted for 11.1% (1/9).

CONCLUSIONS

In good-quality embryos, there was a high rate and diverse array of chromosomal abnormalities. Morphological evaluation does not appear to assist in the reduction in meiotic errors from parental origins. Mitotic errors were common, and nondisjunction was found to be the main mechanism causing malsegregation during the cleavage divisions.

Authors+Show Affiliations

Reproductive Medical Center of Nanning Second People's Hospital, Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China.Reproductive Medical Center of Nanning Second People's Hospital, Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China. nnqying@sina.com.Reproductive Medical Center of Nanning Second People's Hospital, Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China. xuchanglong2011@hotmail.com.Reproductive Medical Center of Nanning Second People's Hospital, Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China.Reproductive Medical Center of Nanning Second People's Hospital, Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China.Reproductive Medical Center of Nanning Second People's Hospital, Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People's Republic of China.Yikon Genomics Co. Ltd, Shanghai, People's Republic of China.Yikon Genomics Co. Ltd, Shanghai, People's Republic of China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32445153

Citation

Shi, Qiuwen, et al. "Next-generation Sequencing Analysis of Each Blastomere in Good-quality Embryos: Insights Into the Origins and Mechanisms of Embryonic Aneuploidy in Cleavage-stage Embryos." Journal of Assisted Reproduction and Genetics, vol. 37, no. 7, 2020, pp. 1711-1718.
Shi Q, Qiu Y, Xu C, et al. Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos. J Assist Reprod Genet. 2020;37(7):1711-1718.
Shi, Q., Qiu, Y., Xu, C., Yang, H., Li, C., Li, N., Gao, Y., & Yu, C. (2020). Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos. Journal of Assisted Reproduction and Genetics, 37(7), 1711-1718. https://doi.org/10.1007/s10815-020-01803-9
Shi Q, et al. Next-generation Sequencing Analysis of Each Blastomere in Good-quality Embryos: Insights Into the Origins and Mechanisms of Embryonic Aneuploidy in Cleavage-stage Embryos. J Assist Reprod Genet. 2020;37(7):1711-1718. PubMed PMID: 32445153.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos. AU - Shi,Qiuwen, AU - Qiu,Ying, AU - Xu,Changlong, AU - Yang,Hua, AU - Li,Chunyuan, AU - Li,Nina, AU - Gao,Yumei, AU - Yu,Caiyun, Y1 - 2020/05/22/ PY - 2019/09/25/received PY - 2020/04/28/accepted PY - 2021/07/01/pmc-release PY - 2020/5/24/pubmed PY - 2020/5/24/medline PY - 2020/5/24/entrez KW - Aneuploidy KW - Cleavage embryo KW - Mosaicism KW - Multiple annealing and looping-based amplification cycles (MALBAC) KW - Preimplantation genetic screening SP - 1711 EP - 1718 JF - Journal of assisted reproduction and genetics JO - J. Assist. Reprod. Genet. VL - 37 IS - 7 N2 - PURPOSE: To explore the whole-chromosome status, origins, and mechanisms of chromosomal abnormalities in good-quality cleavage embryos using multiple annealing and looping-based amplification cycle (MALBAC) sequencing. METHODS: The embryos studied came from7 patients (maternal aged 26-35) who had healthy birth from the same IVF cycles. These 21 frozen day 3 good-quality embryos were thawed and disaggregated into individual blastomere. Each blastomere was collected and analyzed by MALBAC sequencing. RESULTS: Conclusive results were obtained from a high percentage of blastomeres (95.3%). A total of 46.6% of blastomeres were diploid, 53.4% were abnormal, and 28.0% had complex aneuploidy. Out of 21 embryos, 3 (14.3%) were normal and 18 (85.7%) were mosaics, showing the occurrence of mitotic errors; aneuploidy was confirmed in all cells of 4 of the 18 embryos, which showed the coexistence of meiotic errors. Conclusive results were obtained from all blastomeres of 15 embryos (71.4%, 15/21), which enabled us to reconstruct the cell lineage on the basis of the chromosomal content of the blastomeres in each division. There were 9 mitotic errors (8.7%, 9/103): nondisjunction accounted for 88.9% (8/9), and endoreplication accounted for 11.1% (1/9). CONCLUSIONS: In good-quality embryos, there was a high rate and diverse array of chromosomal abnormalities. Morphological evaluation does not appear to assist in the reduction in meiotic errors from parental origins. Mitotic errors were common, and nondisjunction was found to be the main mechanism causing malsegregation during the cleavage divisions. SN - 1573-7330 UR - https://www.unboundmedicine.com/medline/citation/32445153/Next-generation_sequencing_analysis_of_each_blastomere_in_good-quality_embryos:_insights_into_the_origins_and_mechanisms_of_embryonic_aneuploidy_in_cleavage-stage_embryos L2 - https://doi.org/10.1007/s10815-020-01803-9 DB - PRIME DP - Unbound Medicine ER -
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