Document Detail

SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts.
MedLine Citation:
PMID:  20479065     Owner:  NLM     Status:  MEDLINE    
Although selection of chromosomally normal embryos has the potential to improve outcomes for patients undergoing IVF, the clinical impact of aneuploidy screening by fluorescence in situ hybridization (FISH) has been controversial. There are many putative explanations including sampling error due to mosaicism, negative impact of biopsy, a lack of comprehensive chromosome screening, the possibility of embryo self-correction and poor predictive value of the technology itself. Direct analysis of the negative predictive value of FISH-based aneuploidy screening for an embryo's reproductive potential has not been performed. Although previous studies have found that cleavage-stage FISH is poorly predictive of aneuploidy in morphologically normal blastocysts, putative explanations have not been investigated. The present study used a single nucleotide polymorphism (SNP) microarray-based 24 chromosome aneuploidy screening technology to re-evaluate morphologically normal blastocysts that were diagnosed as aneuploid by FISH at the cleavage stage. Mosaicism and preferential segregation of aneuploidy to the trophectoderm (TE) were evaluated by characterization of multiple sections of the blastocyst. SNP microarray technology also provided the first opportunity to evaluate self-correction mechanisms involving extrusion or duplication of aneuploid chromosomes resulting in uniparental disomy (UPD). Of all blastocysts evaluated (n = 50), 58% were euploid in all sections despite an aneuploid FISH result. Aneuploid blastocysts displayed no evidence of preferential segregation of abnormalities to the TE. In addition, extrusion or duplication of aneuploid chromosomes resulting in UPD did not occur. These findings support the conclusion that cleavage-stage FISH technology is poorly predictive of aneuploidy in morphologically normal blastocysts.
L E Northrop; N R Treff; B Levy; R T Scott
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Publication Detail:
Type:  Comparative Study; Journal Article     Date:  2010-05-17
Journal Detail:
Title:  Molecular human reproduction     Volume:  16     ISSN:  1460-2407     ISO Abbreviation:  Mol. Hum. Reprod.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-21     Completed Date:  2010-12-22     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  9513710     Medline TA:  Mol Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  590-600     Citation Subset:  IM    
Reproductive Medicine Associates of New Jersey, Morristown, NJ 07960, USA.
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MeSH Terms
Blastocyst / cytology*,  metabolism
Cell Line
Cleavage Stage, Ovum / metabolism*
Embryonic Development
In Situ Hybridization, Fluorescence / methods
Maternal Age
Microarray Analysis / methods
Polymorphism, Single Nucleotide*
Preimplantation Diagnosis / methods*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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