Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos
Despite next-generation sequencing, which now allows for the accurate detection of segmental aneuploidies from in vitro fertilization embryo biopsies, the origin and characteristics of these aneuploidies are still relatively unknown. Using a multifocal biopsy approach (four trophectoderms [TEs] and...
| Autores: | , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2020 |
| País: | España |
| Recursos: | INCLIVA |
| Repositorio: | r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA |
| OAI Identifier: | oai:incliva.fundanetsuite.com:p4215 |
| Acesso em linha: | https://incliva.portalinvestigacion.com/publicaciones/4215 |
| Access Level: | acceso abierto |
| Palavra-chave: | IVF PGT aneuploidies meiosis mitotic aneuploidies mosaicism preimplantation embryo preimplantation genetic testing preimplnatation genetic screening segmental abnormalities |
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Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human EmbryosGirardi, LSerdarogullari, MPatassini, CPoli, MFabiani, MCaroselli, SCoban, OFindikli, NBoynukalin, FKBahceci, MChopra, RCanipari, RCimadomo, DRienzi, LUbaldi, FHoffmann, ERubio, CSimon, CCapalbo, AIVFPGTaneuploidiesmeiosismitotic aneuploidiesmosaicismpreimplantation embryopreimplantation genetic testingpreimplnatation genetic screeningsegmental abnormalitiesDespite next-generation sequencing, which now allows for the accurate detection of segmental aneuploidies from in vitro fertilization embryo biopsies, the origin and characteristics of these aneuploidies are still relatively unknown. Using a multifocal biopsy approach (four trophectoderms [TEs] and one inner cell mass [ICM] analyzed per blastocyst; n = 390), we determine the origin of the aneuploidy and the diagnostic predictive value of segmental aneuploidy detection in TE biopsies toward the ICM's chromosomal constitution. Contrary to the prevalent meiotic origin of whole-chromosome aneuploidies, we show that sub-chromosomal abnormalities in human blastocysts arise from mitotic errors in around 70% of cases. As a consequence, the positive-predictive value toward ICM configuration was significantly lower for segmental as compared to whole-chromosome aneuploidies (70.8% versus 97.18%, respectively). In order to enhance the clinical utility of reporting segmental findings in clinical TE biopsies, we have developed and clinically verified a risk stratification model based on a second TE biopsy confirmation and segmental length; this model can significantly improve the prediction of aneuploidy risk in the ICM in over 86% of clinical cases enrolled. In conclusion, we provide evidence of the predominant mitotic origin of segmental aneuploidies in preimplantation embryos and develop a risk stratification model that can help post-test genetic counseling and that facilitates the decision-making process on clinical utilization of these embryos.CELL PRESS2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://incliva.portalinvestigacion.com/publicaciones/4215AMERICAN JOURNAL OF HUMAN GENETICSISSN: 00029297ISSNe: 15376605reponame:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVAinstname:INCLIVAInglésinfo:eu-repo/semantics/openAccessoai:incliva.fundanetsuite.com:p42152026-06-07T16:35:31Z |
| dc.title.none.fl_str_mv |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos |
| title |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos |
| spellingShingle |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos Girardi, L IVF PGT aneuploidies meiosis mitotic aneuploidies mosaicism preimplantation embryo preimplantation genetic testing preimplnatation genetic screening segmental abnormalities |
| title_short |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos |
| title_full |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos |
| title_fullStr |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos |
| title_full_unstemmed |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos |
| title_sort |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos |
| dc.creator.none.fl_str_mv |
Girardi, L Serdarogullari, M Patassini, C Poli, M Fabiani, M Caroselli, S Coban, O Findikli, N Boynukalin, FK Bahceci, M Chopra, R Canipari, R Cimadomo, D Rienzi, L Ubaldi, F Hoffmann, E Rubio, C Simon, C Capalbo, A |
| author |
Girardi, L |
| author_facet |
Girardi, L Serdarogullari, M Patassini, C Poli, M Fabiani, M Caroselli, S Coban, O Findikli, N Boynukalin, FK Bahceci, M Chopra, R Canipari, R Cimadomo, D Rienzi, L Ubaldi, F Hoffmann, E Rubio, C Simon, C Capalbo, A |
| author_role |
author |
| author2 |
Serdarogullari, M Patassini, C Poli, M Fabiani, M Caroselli, S Coban, O Findikli, N Boynukalin, FK Bahceci, M Chopra, R Canipari, R Cimadomo, D Rienzi, L Ubaldi, F Hoffmann, E Rubio, C Simon, C Capalbo, A |
| author2_role |
author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
IVF PGT aneuploidies meiosis mitotic aneuploidies mosaicism preimplantation embryo preimplantation genetic testing preimplnatation genetic screening segmental abnormalities |
| topic |
IVF PGT aneuploidies meiosis mitotic aneuploidies mosaicism preimplantation embryo preimplantation genetic testing preimplnatation genetic screening segmental abnormalities |
| description |
Despite next-generation sequencing, which now allows for the accurate detection of segmental aneuploidies from in vitro fertilization embryo biopsies, the origin and characteristics of these aneuploidies are still relatively unknown. Using a multifocal biopsy approach (four trophectoderms [TEs] and one inner cell mass [ICM] analyzed per blastocyst; n = 390), we determine the origin of the aneuploidy and the diagnostic predictive value of segmental aneuploidy detection in TE biopsies toward the ICM's chromosomal constitution. Contrary to the prevalent meiotic origin of whole-chromosome aneuploidies, we show that sub-chromosomal abnormalities in human blastocysts arise from mitotic errors in around 70% of cases. As a consequence, the positive-predictive value toward ICM configuration was significantly lower for segmental as compared to whole-chromosome aneuploidies (70.8% versus 97.18%, respectively). In order to enhance the clinical utility of reporting segmental findings in clinical TE biopsies, we have developed and clinically verified a risk stratification model based on a second TE biopsy confirmation and segmental length; this model can significantly improve the prediction of aneuploidy risk in the ICM in over 86% of clinical cases enrolled. In conclusion, we provide evidence of the predominant mitotic origin of segmental aneuploidies in preimplantation embryos and develop a risk stratification model that can help post-test genetic counseling and that facilitates the decision-making process on clinical utilization of these embryos. |
| publishDate |
2020 |
| dc.date.none.fl_str_mv |
2020 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
https://incliva.portalinvestigacion.com/publicaciones/4215 |
| url |
https://incliva.portalinvestigacion.com/publicaciones/4215 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
| eu_rights_str_mv |
openAccess |
| dc.publisher.none.fl_str_mv |
CELL PRESS |
| publisher.none.fl_str_mv |
CELL PRESS |
| dc.source.none.fl_str_mv |
AMERICAN JOURNAL OF HUMAN GENETICS ISSN: 00029297 ISSNe: 15376605 reponame:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA instname:INCLIVA |
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INCLIVA |
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r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA |
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r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA |
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15,812429 |