Evaluating the application value of NGS-based PGT-A by screening cryopreserved MDA products of embryos from PGT-M cycles with known transfer outcomes

Purpose To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A). Methods We conducted a retrospective case–control study on a cohort of frozen-thawed embryo transfer (FET) cycles following preimplantation genetic testing f...

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Published in	Journal of assisted reproduction and genetics Vol. 39; no. 6; pp. 1323 - 1331
Main Authors	Shen, Xiaoting, Chen, Dongjia, Ding, Chenhui, Xu, Yan, Fu, Yu, Cai, Bing, Wang, Yali, Wang, Jing, Li, Rong, Guo, Jing, Pan, Jiafu, Zhang, Han, Zeng, Yanhong, Zhou, Canquan
Format	Journal Article
Language	English
Published	New York Springer US 01.06.2022 Springer Nature B.V
Subjects	Abortion, Spontaneous - genetics Abortion, Spontaneous - pathology Aneuploidy Assisted Reproduction Technologies Biopsy Blastocyst - pathology Case-Control Studies Cryopreservation Embryo transfer Embryos Female Genetic screening Genetic Testing Gynecology High-Throughput Nucleotide Sequencing Human Genetics Humans Medicine Medicine & Public Health Miscarriage Mosaicism Next-generation sequencing Pregnancy Preimplantation Diagnosis Reproductive Medicine Retrospective Studies Trophectoderm Frozen-thawed embryo transfer Next-generation sequencing Multiple displacement amplification Miscarriage Preimplantation genetic testing for aneuploidies
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Abstract	Purpose To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A). Methods We conducted a retrospective case–control study on a cohort of frozen-thawed embryo transfer (FET) cycles following preimplantation genetic testing for monogenic disorders (PGT-M) between 2014 and 2017. Cycles that produced live births or early miscarriages were divided into live birth group ( n = 76) or miscarriage group ( n = 19), respectively. The NGS-based aneuploidy screening was performed on the multiple displacement amplification (MDA) products of the embryonic trophectoderm biopsy samples that were cryopreserved following PGT-M. Results In the live birth group, 75% (57/76) embryos were euploid and 14.5% (11/76) were aneuploid. The remaining 10.5% (8/76) embryos were NGS-classified mosaic with the high- (≥ 50%) and low-level (< 50%) mosaicism rates at 7.9% (6/76) and 2.6% (2/76), respectively. In the miscarriage group, only 23.5% (4/17) embryos were aneuploid, while 58.8% (10/17) were euploid and 17.6% (3/17) were NGS-classified mosaic with the high- and low-level mosaicism rates at 11.8% (2/17) and 5.9% (1/17), respectively. For live birth and miscarriage groups, the transferable rate was 82.9% (63/76) and 70.6% (12/17), respectively, whereas the untransferable rate was 17.1% (13/76) and 29.4% (5/17), respectively. Conclusion The application of NGS-based PGT-A remains questionable, as it may cause at least one in six embryos with reproductive potential to be discarded and prevent miscarriage in less than one in three embryos in single-gene disease carriers.
AbstractList	To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A).PURPOSETo determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A).We conducted a retrospective case-control study on a cohort of frozen-thawed embryo transfer (FET) cycles following preimplantation genetic testing for monogenic disorders (PGT-M) between 2014 and 2017. Cycles that produced live births or early miscarriages were divided into live birth group (n = 76) or miscarriage group (n = 19), respectively. The NGS-based aneuploidy screening was performed on the multiple displacement amplification (MDA) products of the embryonic trophectoderm biopsy samples that were cryopreserved following PGT-M.METHODSWe conducted a retrospective case-control study on a cohort of frozen-thawed embryo transfer (FET) cycles following preimplantation genetic testing for monogenic disorders (PGT-M) between 2014 and 2017. Cycles that produced live births or early miscarriages were divided into live birth group (n = 76) or miscarriage group (n = 19), respectively. The NGS-based aneuploidy screening was performed on the multiple displacement amplification (MDA) products of the embryonic trophectoderm biopsy samples that were cryopreserved following PGT-M.In the live birth group, 75% (57/76) embryos were euploid and 14.5% (11/76) were aneuploid. The remaining 10.5% (8/76) embryos were NGS-classified mosaic with the high- (≥ 50%) and low-level (< 50%) mosaicism rates at 7.9% (6/76) and 2.6% (2/76), respectively. In the miscarriage group, only 23.5% (4/17) embryos were aneuploid, while 58.8% (10/17) were euploid and 17.6% (3/17) were NGS-classified mosaic with the high- and low-level mosaicism rates at 11.8% (2/17) and 5.9% (1/17), respectively. For live birth and miscarriage groups, the transferable rate was 82.9% (63/76) and 70.6% (12/17), respectively, whereas the untransferable rate was 17.1% (13/76) and 29.4% (5/17), respectively.RESULTSIn the live birth group, 75% (57/76) embryos were euploid and 14.5% (11/76) were aneuploid. The remaining 10.5% (8/76) embryos were NGS-classified mosaic with the high- (≥ 50%) and low-level (< 50%) mosaicism rates at 7.9% (6/76) and 2.6% (2/76), respectively. In the miscarriage group, only 23.5% (4/17) embryos were aneuploid, while 58.8% (10/17) were euploid and 17.6% (3/17) were NGS-classified mosaic with the high- and low-level mosaicism rates at 11.8% (2/17) and 5.9% (1/17), respectively. For live birth and miscarriage groups, the transferable rate was 82.9% (63/76) and 70.6% (12/17), respectively, whereas the untransferable rate was 17.1% (13/76) and 29.4% (5/17), respectively.The application of NGS-based PGT-A remains questionable, as it may cause at least one in six embryos with reproductive potential to be discarded and prevent miscarriage in less than one in three embryos in single-gene disease carriers.CONCLUSIONThe application of NGS-based PGT-A remains questionable, as it may cause at least one in six embryos with reproductive potential to be discarded and prevent miscarriage in less than one in three embryos in single-gene disease carriers. Purpose To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A). Methods We conducted a retrospective case–control study on a cohort of frozen-thawed embryo transfer (FET) cycles following preimplantation genetic testing for monogenic disorders (PGT-M) between 2014 and 2017. Cycles that produced live births or early miscarriages were divided into live birth group ( n = 76) or miscarriage group ( n = 19), respectively. The NGS-based aneuploidy screening was performed on the multiple displacement amplification (MDA) products of the embryonic trophectoderm biopsy samples that were cryopreserved following PGT-M. Results In the live birth group, 75% (57/76) embryos were euploid and 14.5% (11/76) were aneuploid. The remaining 10.5% (8/76) embryos were NGS-classified mosaic with the high- (≥ 50%) and low-level (< 50%) mosaicism rates at 7.9% (6/76) and 2.6% (2/76), respectively. In the miscarriage group, only 23.5% (4/17) embryos were aneuploid, while 58.8% (10/17) were euploid and 17.6% (3/17) were NGS-classified mosaic with the high- and low-level mosaicism rates at 11.8% (2/17) and 5.9% (1/17), respectively. For live birth and miscarriage groups, the transferable rate was 82.9% (63/76) and 70.6% (12/17), respectively, whereas the untransferable rate was 17.1% (13/76) and 29.4% (5/17), respectively. Conclusion The application of NGS-based PGT-A remains questionable, as it may cause at least one in six embryos with reproductive potential to be discarded and prevent miscarriage in less than one in three embryos in single-gene disease carriers. To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A). We conducted a retrospective case-control study on a cohort of frozen-thawed embryo transfer (FET) cycles following preimplantation genetic testing for monogenic disorders (PGT-M) between 2014 and 2017. Cycles that produced live births or early miscarriages were divided into live birth group (n = 76) or miscarriage group (n = 19), respectively. The NGS-based aneuploidy screening was performed on the multiple displacement amplification (MDA) products of the embryonic trophectoderm biopsy samples that were cryopreserved following PGT-M. In the live birth group, 75% (57/76) embryos were euploid and 14.5% (11/76) were aneuploid. The remaining 10.5% (8/76) embryos were NGS-classified mosaic with the high- (≥ 50%) and low-level (< 50%) mosaicism rates at 7.9% (6/76) and 2.6% (2/76), respectively. In the miscarriage group, only 23.5% (4/17) embryos were aneuploid, while 58.8% (10/17) were euploid and 17.6% (3/17) were NGS-classified mosaic with the high- and low-level mosaicism rates at 11.8% (2/17) and 5.9% (1/17), respectively. For live birth and miscarriage groups, the transferable rate was 82.9% (63/76) and 70.6% (12/17), respectively, whereas the untransferable rate was 17.1% (13/76) and 29.4% (5/17), respectively. The application of NGS-based PGT-A remains questionable, as it may cause at least one in six embryos with reproductive potential to be discarded and prevent miscarriage in less than one in three embryos in single-gene disease carriers. Abstract PurposeTo determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A).MethodsWe conducted a retrospective case–control study on a cohort of frozen-thawed embryo transfer (FET) cycles following preimplantation genetic testing for monogenic disorders (PGT-M) between 2014 and 2017. Cycles that produced live births or early miscarriages were divided into live birth group (n = 76) or miscarriage group (n = 19), respectively. The NGS-based aneuploidy screening was performed on the multiple displacement amplification (MDA) products of the embryonic trophectoderm biopsy samples that were cryopreserved following PGT-M.ResultsIn the live birth group, 75% (57/76) embryos were euploid and 14.5% (11/76) were aneuploid. The remaining 10.5% (8/76) embryos were NGS-classified mosaic with the high- (≥ 50%) and low-level (< 50%) mosaicism rates at 7.9% (6/76) and 2.6% (2/76), respectively. In the miscarriage group, only 23.5% (4/17) embryos were aneuploid, while 58.8% (10/17) were euploid and 17.6% (3/17) were NGS-classified mosaic with the high- and low-level mosaicism rates at 11.8% (2/17) and 5.9% (1/17), respectively. For live birth and miscarriage groups, the transferable rate was 82.9% (63/76) and 70.6% (12/17), respectively, whereas the untransferable rate was 17.1% (13/76) and 29.4% (5/17), respectively.ConclusionThe application of NGS-based PGT-A remains questionable, as it may cause at least one in six embryos with reproductive potential to be discarded and prevent miscarriage in less than one in three embryos in single-gene disease carriers.
Author	Li, Rong Shen, Xiaoting Fu, Yu Zhang, Han Chen, Dongjia Wang, Jing Zhou, Canquan Xu, Yan Pan, Jiafu Wang, Yali Ding, Chenhui Cai, Bing Guo, Jing Zeng, Yanhong
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Keywords	Frozen-thawed embryo transfer Next-generation sequencing Multiple displacement amplification Miscarriage Preimplantation genetic testing for aneuploidies
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PublicationDate	2022-06-01
PublicationDateYYYYMMDD	2022-06-01
PublicationDate_xml	– month: 06 year: 2022 text: 2022-06-01 day: 01
PublicationDecade	2020
PublicationPlace	New York
PublicationPlace_xml	– name: New York – name: Netherlands
PublicationSubtitle	An Official Journal of the American Society for Reproductive Medicine
PublicationTitle	Journal of assisted reproduction and genetics
PublicationTitleAbbrev	J Assist Reprod Genet
PublicationTitleAlternate	J Assist Reprod Genet
PublicationYear	2022
Publisher	Springer US Springer Nature B.V
Publisher_xml	– name: Springer US – name: Springer Nature B.V
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Snippet	Purpose To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A). Methods We... To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A). We conducted a... Abstract PurposeTo determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A).MethodsWe... To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A).PURPOSETo determine the...
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SubjectTerms	Abortion, Spontaneous - genetics Abortion, Spontaneous - pathology Aneuploidy Assisted Reproduction Technologies Biopsy Blastocyst - pathology Case-Control Studies Cryopreservation Embryo transfer Embryos Female Genetic screening Genetic Testing Gynecology High-Throughput Nucleotide Sequencing Human Genetics Humans Medicine Medicine & Public Health Miscarriage Mosaicism Next-generation sequencing Pregnancy Preimplantation Diagnosis Reproductive Medicine Retrospective Studies Trophectoderm
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Title	Evaluating the application value of NGS-based PGT-A by screening cryopreserved MDA products of embryos from PGT-M cycles with known transfer outcomes
URI	https://link.springer.com/article/10.1007/s10815-022-02447-7 https://www.ncbi.nlm.nih.gov/pubmed/35275308 https://www.proquest.com/docview/2673710749 https://www.proquest.com/docview/2638717483 https://pubmed.ncbi.nlm.nih.gov/PMC9174381
Volume	39
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