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Chromosomal mosaicism detected during preimplantation genetic screening: results of a worldwide Web-based survey (May 2017)

fertility and sterility
Title:
Chromosomal mosaicism detected during preimplantation genetic screening: results of a worldwide Web-based survey
Journal:
Fertility and sterility,May 2017, volume 107, issue 5,pages 1092-1097
Author(s):
Weissman A1, Shoham G2, Shoham Z3, Fishel S4, Leong M5, Yaron Y6
Author(s) affiliation:
1 IVF Unit, Department of Obstetrics & Gynaecology, Edith Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
3 Reproductive Medicine Unit, Kaplan Medicine Center, Rehovot, Israel; Hadassah Medical School, Affiliated to the Hebrew University, Jerusalem, Israel.
4CARE Fertility Group, John Webster House, Nottingham, United Kingdom.
5IVF Clinic, Hong Kong.
6 IVF Unit, Department of Obstetrics & Gynaecology, Edith Wolfson Medical Center, Holon, Israel; Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
 

 

Short description:
Embryonic mosaicism, the presence of more than one distinct cell line within an embryo, has recently become the focus of growing attention and controversy in the context of preimplantation genetic screening (PGS). To evaluate the extent of mosaic aneuploidy in clinical practice and to gain insight on the practices and views regarding this issue, we conducted a survey using a prospective, 20-item Web-based questionnaire with questions related to practices and views regarding mosaicism in PGS. A total of 102 in vitro fertilization (IVF) units from 32 countries that performed 108,900 IVF cycles annually responded to the survey. More than half responded that embryonic mosaic aneuploidy is reported by the laboratory, but 31.9% stated that samples are reported as euploid or aneuploid only. If mosaic aneuploidy is reported, 46% stated that it was present in ≤10% of the embryos. More than two-thirds were of the opinion that next-generation sequencing is required to reliably detect mosaicism. Among centers performing PGS, 47.9% consider embryonic mosaicism when detected in >20% of the cells, and nearly two-thirds believe that mosaic aneuploid embryos should be stored for potential therapeutic use after extensive and appropriate counseling. In summary, mosaicism has always existed in preimplantation embryos, and new technologies can now detect its presence with higher resolution. More studies are needed before definite conclusions can be drawn.
Link to the journal
 

 

Abstract taken from PubMed

Abstract:
Embryonic mosaicism, the presence of more than one distinct cell line within an embryo, has recently become the focus of growing attention and controversy in the context of preimplantation genetic screening (PGS). To evaluate the extent of mosaic aneuploidy in clinical practice and to gain insight on the practices and views regarding this issue, we conducted a survey using a prospective, 20-item Web-based questionnaire with questions related to practices and views regarding mosaicism in PGS. A total of 102 in vitro fertilization (IVF) units from 32 countries that performed 108,900 IVF cycles annually responded to the survey. More than half responded that embryonic mosaic aneuploidy is reported by the laboratory, but 31.9% stated that samples are reported as euploid or aneuploid only. If mosaic aneuploidy is reported, 46% stated that it was present in ≤10% of the embryos. More than two-thirds were of the opinion that next-generation sequencing is required to reliably detect mosaicism. Among centers performing PGS, 47.9% consider embryonic mosaicism when detected in >20% of the cells, and nearly two-thirds believe that mosaic aneuploid embryos should be stored for potential therapeutic use after extensive and appropriate counseling. In summary, mosaicism has always existed in preimplantation embryos, and new technologies can now detect its presence with higher resolution. More studies are needed before definite conclusions can be drawn.

Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Link to the paper on PubMed
 




 

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