期刊
FERTILITY AND STERILITY
卷 101, 期 1, 页码 232-236出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.fertnstert.2013.08.051
关键词
Comprehensive chromosome screening; preimplantation genetic diagnosis; SNP microarray; uniparental disomy
资金
- American Society for Reproductive Medicine
- UMDNJ
- Frontiers in Reproductive Endocrinology
- Japanese Society for Assisted Reproduction
- Penn State University
- Washington State University
- Mayo Clinic
- Applied Bio-systems Inc.
- Texas ART Society
- American Association of Bioanalysts
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. (Fertil Steril (R) 2014; 101: 232-6. (C) 2014 by American Society for Reproductive Medicine.)
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