Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol.

Human Reproduction
D S JohnsonM Rabinowitz

Abstract

Preimplantation genetic screening (PGS) has been used in an attempt to determine embryonic aneuploidy. Techniques that use new molecular methods to determine the karyotype of an embryo are expanding the scope of PGS. We introduce a new method for PGS, termed 'parental support', which leverages microarray measurements from parental DNA to 'clean' single-cell microarray measurements on embryonic cells and explicitly computes confidence in each copy number call. The method distinguishes mitotic and meiotic copy errors and determines parental source of aneuploidy. Validation with 459 single cells of known karyotype indicated that per-cell false-positive and false-negative rates are roughly equivalent to the 'gold standard' metaphase karyotype. The majority of the cells were run in parallel with a clinical commercial PGS service. Computed confidences were conservative and roughly concordant with accuracy. To examine ploidy in human embryos, the method was then applied to 26 disaggregated, cryopreserved, cleavage-stage embryos for a total of 134 single blastomeres. Only 23.1% of the embryos were euploid, though 46.2% of embryos were mosaic euploid. Mosaicism affected 57.7% of the embryos. Counts of mitotic and meiotic errors were rou...Continue Reading

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Citations

Jul 12, 2011·Journal of Assisted Reproduction and Genetics·Kim Dao LyZsolt Peter Nagy
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Datasets Mentioned

BETA
GSE19247

Methods Mentioned

BETA
genotyping
MDA
biopsies

Software Mentioned

Illumina BeadStudio
ChromoZone
MATLAB
BeadStudio

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