The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles

Objective: To understand how mosaicism varies across patient-specific variables and clinics. Design: Cross-sectional cohort. Setting: Genetic testing laboratory. Patients: A total of 86,208 embryos from 17,366 patients underwent preimplantation genetic testing for aneuploidy using next-generation se...

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Main Authors: Abigail Armstrong, M.D., Lindsay Kroener, M.D., Jenna Miller, M.S., Anissa Nguyen, M.P.H., Lorna Kwan, M.P.H., Molly Quinn, M.D.
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:F&S Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2666334123000399
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author Abigail Armstrong, M.D.
Lindsay Kroener, M.D.
Jenna Miller, M.S.
Anissa Nguyen, M.P.H.
Lorna Kwan, M.P.H.
Molly Quinn, M.D.
author_facet Abigail Armstrong, M.D.
Lindsay Kroener, M.D.
Jenna Miller, M.S.
Anissa Nguyen, M.P.H.
Lorna Kwan, M.P.H.
Molly Quinn, M.D.
author_sort Abigail Armstrong, M.D.
collection DOAJ
description Objective: To understand how mosaicism varies across patient-specific variables and clinics. Design: Cross-sectional cohort. Setting: Genetic testing laboratory. Patients: A total of 86,208 embryos from 17,366 patients underwent preimplantation genetic testing for aneuploidy using next-generation sequencing. Intervention(s): Mosaic embryos were classified as either low-level (20%–40%) or high-level (40%–80%) and by type of mosaic error: single segmental, complex segmental, single chromosome, or complex abnormal mosaic. The rate of mosaicism was stratified by the Society for Assisted Reproductive Technology age categories: <35 years, 35–37 years, 38–40 years, 41–42 years, and >42 years. Main Outcome Measure(s): Distribution of chromosomal findings and prevalence of mosaicism type by age. Probability of creating mosaic embryos in a subsequent cycle. Result(s): Among all embryos, 44% were euploid, 40.2% were aneuploid, and 15.8% were mosaic. Both low-level and high-level mosaicism were more prevalent among younger patients. Of all mosaic embryos, the youngest age cohort <35 years had the highest proportions of single and complex segmental mosaicism (37.9% and 6.8%, respectively), whereas those aged >42 years had the highest single whole chromosome and complex abnormal mosaicism (37.1% and 34.0%, respectively). Although there was variability in mosaic rates across clinics, the median mosaic rate over 3 years ranged from 14.48% to 17.72%. A diagnosis of a mosaic embryo in a previous cycle did not increase a patient’s odds for having a mosaic embryo in a subsequent cycle. Conclusion(s): Mosaicism is overall higher in younger patients, but the complexity of mosaic errors increases with age. A history of mosaicism was not associated with mosaicism in subsequent cycles. Additional research is needed to understand the etiologies of the various subtypes of mosaic embryos and clinical outcomes associated with their transfer.
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spelling doaj.art-61b93df3f7924b1b871fb9908720059a2023-09-09T04:56:30ZengElsevierF&S Reports2666-33412023-09-0143256261The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cyclesAbigail Armstrong, M.D.0Lindsay Kroener, M.D.1Jenna Miller, M.S.2Anissa Nguyen, M.P.H.3Lorna Kwan, M.P.H.4Molly Quinn, M.D.5Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of California, Los Angeles, California; Correspondence: Abigail A. Armstrong, M.D., Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, UCLA, 200 Medical Plaza Suite 220 Los Angeles, California 90095.Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of California, Los Angeles, CaliforniaCooperSurgical, Livingston, New jerseyDepartment of Urology, University of California, Los Angeles, CaliforniaDepartment of Urology, University of California, Los Angeles, CaliforniaDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Keck School of Medicine at University of Southern California, Los Angeles, CaliforniaObjective: To understand how mosaicism varies across patient-specific variables and clinics. Design: Cross-sectional cohort. Setting: Genetic testing laboratory. Patients: A total of 86,208 embryos from 17,366 patients underwent preimplantation genetic testing for aneuploidy using next-generation sequencing. Intervention(s): Mosaic embryos were classified as either low-level (20%–40%) or high-level (40%–80%) and by type of mosaic error: single segmental, complex segmental, single chromosome, or complex abnormal mosaic. The rate of mosaicism was stratified by the Society for Assisted Reproductive Technology age categories: <35 years, 35–37 years, 38–40 years, 41–42 years, and >42 years. Main Outcome Measure(s): Distribution of chromosomal findings and prevalence of mosaicism type by age. Probability of creating mosaic embryos in a subsequent cycle. Result(s): Among all embryos, 44% were euploid, 40.2% were aneuploid, and 15.8% were mosaic. Both low-level and high-level mosaicism were more prevalent among younger patients. Of all mosaic embryos, the youngest age cohort <35 years had the highest proportions of single and complex segmental mosaicism (37.9% and 6.8%, respectively), whereas those aged >42 years had the highest single whole chromosome and complex abnormal mosaicism (37.1% and 34.0%, respectively). Although there was variability in mosaic rates across clinics, the median mosaic rate over 3 years ranged from 14.48% to 17.72%. A diagnosis of a mosaic embryo in a previous cycle did not increase a patient’s odds for having a mosaic embryo in a subsequent cycle. Conclusion(s): Mosaicism is overall higher in younger patients, but the complexity of mosaic errors increases with age. A history of mosaicism was not associated with mosaicism in subsequent cycles. Additional research is needed to understand the etiologies of the various subtypes of mosaic embryos and clinical outcomes associated with their transfer.http://www.sciencedirect.com/science/article/pii/S2666334123000399Mosaic ratessegmentalwhole chromosomemosaicism types
spellingShingle Abigail Armstrong, M.D.
Lindsay Kroener, M.D.
Jenna Miller, M.S.
Anissa Nguyen, M.P.H.
Lorna Kwan, M.P.H.
Molly Quinn, M.D.
The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles
F&S Reports
Mosaic rates
segmental
whole chromosome
mosaicism types
title The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles
title_full The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles
title_fullStr The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles
title_full_unstemmed The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles
title_short The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles
title_sort nature of embryonic mosaicism across female age spectrum an analysis of 21 345 preimplantation genetic testing for aneuploidy cycles
topic Mosaic rates
segmental
whole chromosome
mosaicism types
url http://www.sciencedirect.com/science/article/pii/S2666334123000399
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