Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study
Abstract Background Couples with balanced chromosome rearrangement (BCR) are at high risk of recurrent miscarriages or birth defects due to chromosomally abnormal embryos. This study aimed to provide real-world evidence of the euploidy rate of blastocysts from couples with BCR using preimplantation...
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| Format: | Article |
| Language: | English |
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BMC
2024-01-01
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| Series: | BMC Pregnancy and Childbirth |
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| Online Access: | https://doi.org/10.1186/s12884-023-06237-6 |
| _version_ | 1797276213928001536 |
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| author | Fan Zhou Jun Ren Yutong Li Yuezhi Keqie Cuiting Peng Han Chen Xinlian Chen Shanling Liu |
| author_facet | Fan Zhou Jun Ren Yutong Li Yuezhi Keqie Cuiting Peng Han Chen Xinlian Chen Shanling Liu |
| author_sort | Fan Zhou |
| collection | DOAJ |
| description | Abstract Background Couples with balanced chromosome rearrangement (BCR) are at high risk of recurrent miscarriages or birth defects due to chromosomally abnormal embryos. This study aimed to provide real-world evidence of the euploidy rate of blastocysts from couples with BCR using preimplantation genetic testing (PGT) and to guide pretesting genetic counselling. Methods A continuous four-year PGT data from couples with BCR were retrospectively analyzed. Biopsied trophectoderm cells were amplified using whole genome amplification, and next-generation sequencing was performed to detect the chromosomal numerical and segmental aberrations. Clinical data and molecular genetic testing results were analyzed and compared among the subgroups. Results A total of 1571 PGT cycles with 5942 blastocysts were performed chromosomal numerical and segmental aberrations detection during the four years. Of them, 1034 PGT cycles with 4129 blastocysts for BCR couples were included; 68.96% (713/1034) PGT cycles had transferable euploid embryos. The total euploidy rate of blastocysts in couples carrying the BCR was 35.29% (1457/4129). Couples with complex BCR had euploid blastocyst rates similar to those of couples with non-complex BCR (46.15% vs. 35.18%, P > 0.05). Chromosome inversion had the highest chance of obtaining a euploid blastocyst (57.27%), followed by Robertsonian translocation (RobT) (46.06%), and the lowest in reciprocal translocation (RecT) (30.11%) (P < 0.05). Couples with males carrying RobT had higher rates of euploid embryo both in each PGT cycles and total blastocysts than female RobT carriers did, despite the female age in male RobT is significant older than those with female RobT (P < 0.05). The proportions of non-carrier embryos were 52.78% (95/180) and 47.06% (40/85) in euploid blastocysts from couples with RecT and RobT, respectively (P > 0.05). RecT had the highest proportion of blastocysts with translocated chromosome-associated abnormalities (74.23%, 1527/2057), followed by RobT (54.60%, 273/500) and inversion (30.85%, 29/94) (P < 0.05). Conclusions In couples carrying BCR, the total euploidy rate of blastocysts was 35.29%, with the highest in inversion, followed by RobT and RecT. Even in couples carrying complex BCR, the probability of having a transferable blastocyst was 46.15%. Among the euploid blastocysts, the non-carrier ratios in RecT and RobT were 52.78% and 47.06%, respectively. RecT had the highest proportion of blastocysts with translocated chromosome-associated abnormalities. |
| first_indexed | 2024-03-07T15:25:10Z |
| format | Article |
| id | doaj.art-c160050c68a2419ba1b9466408022f5e |
| institution | Directory Open Access Journal |
| issn | 1471-2393 |
| language | English |
| last_indexed | 2024-03-07T15:25:10Z |
| publishDate | 2024-01-01 |
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| series | BMC Pregnancy and Childbirth |
| spelling | doaj.art-c160050c68a2419ba1b9466408022f5e2024-03-05T17:08:46ZengBMCBMC Pregnancy and Childbirth1471-23932024-01-0124111010.1186/s12884-023-06237-6Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort studyFan Zhou0Jun Ren1Yutong Li2Yuezhi Keqie3Cuiting Peng4Han Chen5Xinlian Chen6Shanling Liu7Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityAbstract Background Couples with balanced chromosome rearrangement (BCR) are at high risk of recurrent miscarriages or birth defects due to chromosomally abnormal embryos. This study aimed to provide real-world evidence of the euploidy rate of blastocysts from couples with BCR using preimplantation genetic testing (PGT) and to guide pretesting genetic counselling. Methods A continuous four-year PGT data from couples with BCR were retrospectively analyzed. Biopsied trophectoderm cells were amplified using whole genome amplification, and next-generation sequencing was performed to detect the chromosomal numerical and segmental aberrations. Clinical data and molecular genetic testing results were analyzed and compared among the subgroups. Results A total of 1571 PGT cycles with 5942 blastocysts were performed chromosomal numerical and segmental aberrations detection during the four years. Of them, 1034 PGT cycles with 4129 blastocysts for BCR couples were included; 68.96% (713/1034) PGT cycles had transferable euploid embryos. The total euploidy rate of blastocysts in couples carrying the BCR was 35.29% (1457/4129). Couples with complex BCR had euploid blastocyst rates similar to those of couples with non-complex BCR (46.15% vs. 35.18%, P > 0.05). Chromosome inversion had the highest chance of obtaining a euploid blastocyst (57.27%), followed by Robertsonian translocation (RobT) (46.06%), and the lowest in reciprocal translocation (RecT) (30.11%) (P < 0.05). Couples with males carrying RobT had higher rates of euploid embryo both in each PGT cycles and total blastocysts than female RobT carriers did, despite the female age in male RobT is significant older than those with female RobT (P < 0.05). The proportions of non-carrier embryos were 52.78% (95/180) and 47.06% (40/85) in euploid blastocysts from couples with RecT and RobT, respectively (P > 0.05). RecT had the highest proportion of blastocysts with translocated chromosome-associated abnormalities (74.23%, 1527/2057), followed by RobT (54.60%, 273/500) and inversion (30.85%, 29/94) (P < 0.05). Conclusions In couples carrying BCR, the total euploidy rate of blastocysts was 35.29%, with the highest in inversion, followed by RobT and RecT. Even in couples carrying complex BCR, the probability of having a transferable blastocyst was 46.15%. Among the euploid blastocysts, the non-carrier ratios in RecT and RobT were 52.78% and 47.06%, respectively. RecT had the highest proportion of blastocysts with translocated chromosome-associated abnormalities.https://doi.org/10.1186/s12884-023-06237-6Pre-implantation genetic testingBalanced chromosome rearrangementBlastocystEuploid |
| spellingShingle | Fan Zhou Jun Ren Yutong Li Yuezhi Keqie Cuiting Peng Han Chen Xinlian Chen Shanling Liu Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study BMC Pregnancy and Childbirth Pre-implantation genetic testing Balanced chromosome rearrangement Blastocyst Euploid |
| title | Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study |
| title_full | Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study |
| title_fullStr | Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study |
| title_full_unstemmed | Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study |
| title_short | Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study |
| title_sort | preimplantation genetic testing in couples with balanced chromosome rearrangement a four year period real world retrospective cohort study |
| topic | Pre-implantation genetic testing Balanced chromosome rearrangement Blastocyst Euploid |
| url | https://doi.org/10.1186/s12884-023-06237-6 |
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