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- W2169901910 abstract "There are probably more areas of agreement than disagreement between Professor Handyside and us (Bisignano et al., 2011; Handyside, 2011). We certainly agree with him that accurate validation is of paramount importance and that a consensus on the best way to achieve this is urgently required. At this point in time, our opinion is that array comparative genomic hybridization (CGH) has the most well-defined accuracy rate of the new comprehensive chromosome screening methods. The array-CGH approach has been evaluated in several independent laboratories, using various strategies and validated with several different cytogenetic techniques. These studies, which have been published in the literature following peer review, have all provided reassuring results concerning accuracy. Professor Handyside suggests that we were dismissive of the value of single-nucleotide polymorphism (SNP) data, especially in regard to its potential for detecting uniparental disomy (UPD) and providing information on parental origin of abnormalities. It is unfortunate if our article came across this way. We do see the potential merits in SNP analysis and have actually explored the use of SNP microarrays in our own laboratories. Our point is that to attempt to use this information clinically is premature. The accuracy of the data on parental origin is not clear, particularly when applied at the cleavage stage, where chromosomal mosaicism is common. Similarly, it is unclear whether UPD detected at the cleavage stage affect the entire embryo or whether they are typically present in a mosaic form. The necessary studies to determine the accuracy of parental origin and UPD" @default.
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- W2169901910 date "2012-01-01" @default.
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- W2169901910 title "Reply: PGD and aneuploidy screening for 24 chromosomes by genome-wide SNP analysis: a responsible path towards greater utility" @default.
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- W2169901910 doi "https://doi.org/10.1016/j.rbmo.2011.11.004" @default.
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