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Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage

CHRISTODOULOS CHRISTODOULOU, Annelies Dheedene, Björn Heindryckx UGent, Filip Van Nieuwerburgh UGent, Dieter Deforce UGent, Petra De Sutter UGent, Björn Menten UGent and Etienne Van den Abbeel UGent (2017) FERTILITY AND STERILITY. 107(1). p.212-+
abstract
Objective: To establish the value of array comparative genomic hybridization (CGH) for preimplantation genetic diagnosis (PGD) in embryos of translocation carriers in combination with vitrification and frozen embryo transfer in nonstimulated cycles. Design: Retrospective data analysis study. Setting: Academic centers for reproductive medicine and genetics. Patient(s): Thirty-four couples undergoing PGD for chromosomal rearrangements from October 2013 to December 2015. Intervention(s): Trophectoderm biopsy at day 5 or day 6 of embryo development and subsequently whole genome amplification and array CGH were performed. Main Outcome Measure(s): This approach revealed a high occurrence of aneuploidies and structural rearrangements unrelated to the parental rearrangement. Nevertheless, we observed a benefit in pregnancy rates of these couples. Result(s): We detected chromosomal abnormalities in 133/207 embryos (64.2% of successfully amplified), and 74 showed a normal microarray profile (35.7%). In 48 of the 133 abnormal embryos (36.1%), an unbalanced rearrangement originating from the parental translocation was identified. Interestingly, 34.6% of the abnormal embryos (46/133) harbored chromosome rearrangements that were not directly linked to the parental translocation in question. We also detected a combination of unbalanced parental-derived rearrangements and aneuploidies in 27 of the 133 abnormal embryos (20.3%). Conclusion(s): The use of trophectoderm biopsy at the blastocyst stage is less detrimental to the survival of the embryo and leads to a more reliable estimate of the genomic content of the embryo than cleavage-stage biopsy. In this small cohort PGD study, we describe the successful implementation of array CGH analysis of blastocysts in patients with a chromosomal rearrangement to identify euploid embryos for transfer. (C) 2016 by American Society for Reproductive Medicine.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
HUMAN EMBRYOS, TRANSLOCATION CARRIERS, IN-VITRO, ROBERTSONIAN, TRANSLOCATIONS, PRECONCEPTION DIAGNOSIS, RECURRENT MISCARRIAGE, PREGNANCY RATES, WARMING CYCLES, PGD, MOSAICISM, Preimplantation genetic diagnosis (PGD), chromosomal rearrangements, array CGH, trophectoderm biopsy, blastocysts
journal title
FERTILITY AND STERILITY
Fertil. Steril.
volume
107
issue
1
pages
11 pages
publisher
Elsevier Science Inc
place of publication
New york
Web of Science type
Article
Web of Science id
000390669600037
ISSN
0015-0282
1556-5653
DOI
10.1016/j.fertnstert.2016.09.045
language
English
UGent publication?
yes
classification
U
id
8553913
handle
http://hdl.handle.net/1854/LU-8553913
date created
2018-03-07 14:59:31
date last changed
2018-05-15 09:39:36
@article{8553913,
  abstract     = {Objective: To establish the value of array comparative genomic hybridization (CGH) for preimplantation genetic diagnosis (PGD) in embryos of translocation carriers in combination with vitrification and frozen embryo transfer in nonstimulated cycles. Design: Retrospective data analysis study. Setting: Academic centers for reproductive medicine and genetics. Patient(s): Thirty-four couples undergoing PGD for chromosomal rearrangements from October 2013 to December 2015. Intervention(s): Trophectoderm biopsy at day 5 or day 6 of embryo development and subsequently whole genome amplification and array CGH were performed. Main Outcome Measure(s): This approach revealed a high occurrence of aneuploidies and structural rearrangements unrelated to the parental rearrangement. Nevertheless, we observed a benefit in pregnancy rates of these couples. Result(s): We detected chromosomal abnormalities in 133/207 embryos (64.2\% of successfully amplified), and 74 showed a normal microarray profile (35.7\%). In 48 of the 133 abnormal embryos (36.1\%), an unbalanced rearrangement originating from the parental translocation was identified. Interestingly, 34.6\% of the abnormal embryos (46/133) harbored chromosome rearrangements that were not directly linked to the parental translocation in question. We also detected a combination of unbalanced parental-derived rearrangements and aneuploidies in 27 of the 133 abnormal embryos (20.3\%). Conclusion(s): The use of trophectoderm biopsy at the blastocyst stage is less detrimental to the survival of the embryo and leads to a more reliable estimate of the genomic content of the embryo than cleavage-stage biopsy. In this small cohort PGD study, we describe the successful implementation of array CGH analysis of blastocysts in patients with a chromosomal rearrangement to identify euploid embryos for transfer. (C) 2016 by American Society for Reproductive Medicine.},
  author       = {CHRISTODOULOU, CHRISTODOULOS and Dheedene, Annelies and Heindryckx, Bj{\"o}rn and Van Nieuwerburgh, Filip and Deforce, Dieter and De Sutter, Petra and Menten, Bj{\"o}rn and Van den Abbeel, Etienne},
  issn         = {0015-0282},
  journal      = {FERTILITY AND STERILITY},
  keyword      = {HUMAN EMBRYOS,TRANSLOCATION CARRIERS,IN-VITRO,ROBERTSONIAN,TRANSLOCATIONS,PRECONCEPTION DIAGNOSIS,RECURRENT MISCARRIAGE,PREGNANCY RATES,WARMING CYCLES,PGD,MOSAICISM,Preimplantation genetic diagnosis (PGD),chromosomal rearrangements,array CGH,trophectoderm biopsy,blastocysts},
  language     = {eng},
  number       = {1},
  pages        = {212--+},
  publisher    = {Elsevier Science Inc},
  title        = {Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage},
  url          = {http://dx.doi.org/10.1016/j.fertnstert.2016.09.045},
  volume       = {107},
  year         = {2017},
}

Chicago
CHRISTODOULOU, CHRISTODOULOS, Annelies Dheedene, Björn Heindryckx, Filip Van Nieuwerburgh, Dieter Deforce, Petra De Sutter, Björn Menten, and Etienne Van den Abbeel. 2017. “Preimplantation Genetic Diagnosis for Chromosomal Rearrangements with the Use of Array Comparative Genomic Hybridization at the Blastocyst Stage.” Fertility and Sterility 107 (1): 212–+.
APA
CHRISTODOULOU, C., Dheedene, A., Heindryckx, B., Van Nieuwerburgh, F., Deforce, D., De Sutter, P., Menten, B., et al. (2017). Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage. FERTILITY AND STERILITY, 107(1), 212–+.
Vancouver
1.
CHRISTODOULOU C, Dheedene A, Heindryckx B, Van Nieuwerburgh F, Deforce D, De Sutter P, et al. Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage. FERTILITY AND STERILITY. New york: Elsevier Science Inc; 2017;107(1):212–+.
MLA
CHRISTODOULOU, CHRISTODOULOS, Annelies Dheedene, Björn Heindryckx, et al. “Preimplantation Genetic Diagnosis for Chromosomal Rearrangements with the Use of Array Comparative Genomic Hybridization at the Blastocyst Stage.” FERTILITY AND STERILITY 107.1 (2017): 212–+. Print.