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Fertil Steril. 2014 Jan;101(1):232-6. doi: 10.1016/j.fertnstert.2013.08.051. Epub 2013 Sep 29.

Uniparental disomy in the human blastocyst is exceedingly rare.

Author information

  • 1Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.
  • 2Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
  • 3Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey; Department of Genetics, Rutgers, State University of New Jersey, Piscataway, New Jersey.
  • 4Human Genetics, Nijmegen Medical Centre, Radboud University, Nijmegen, the Netherlands.
  • 5Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey; Department of Genetics, Rutgers, State University of New Jersey, Piscataway, New Jersey. Electronic address: ntreff@rmanj.com.

Abstract

OBJECTIVE:

To establish whether uniparental disomy (UPD) could represent an outcome of embryonic aneuploidy self-correction and its relevance to preimplantation genetic diagnosis, and to validate a method of UPD detection in limited quantities of cells and determine the frequency of UPD in a large sample size of human blastocysts.

DESIGN:

Retrospective observational.

SETTING:

Academic center for reproductive medicine.

PATIENT(S):

Couples undergoing in vitro fertilization (IVF) treatment whose embryos underwent trophectoderm biopsy single-nucleotide polymorphism (SNP) array-based 24-chromosome aneuploidy screening.

INTERVENTION(S):

None.

MAIN OUTCOME MEASURE(S):

Rate of UPD observed in the human blastocyst.

RESULT(S):

After application of defined thresholds, 2 of 3,401 blastocysts were found to possess isodisomy, and 0 were found to possess heterodisomy. The overall frequency of UPD in the human blastocyst was therefore 0.06%.

CONCLUSION(S):

This validated method of detection indicates that UPD is extremely rare and suggests that routine screening during preimplantation genetic diagnosis (PGD) may not be necessary. Furthermore, chromosomal UPD is unlikely to explain or support the existence of embryonic self-correction.

Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

KEYWORDS:

Comprehensive chromosome screening; SNP microarray; preimplantation genetic diagnosis; uniparental disomy

PMID:
24083874
[PubMed - indexed for MEDLINE]
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