Simultaneous assessment of aneuploidy, polymorphisms, and mitochondrial DNA content in human polar bodies and embryos with the use of a novel microarray platform  Michalis Konstantinidis, Ph.D., Samer Alfarawati, Ph.D., Douglas Hurd, Ph.D., Marta Paolucci, Ph.D., John Shovelton, B.Sc., Elpida Fragouli, Ph.D., Dagan Wells, Ph.D.  Fertility and Sterility  Volume 102, Issue 5, Pages 1385-1392 (November 2014) DOI: 10.1016/j.fertnstert.2014.07.1233 Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Chromosome profile of an aneuploid blastomere processed with two microarray comparative genomic hybridization platforms. (A) Red circles indicate gain and loss of chromosomal material as detected by the 24sure microarray (v. 2). The same microarray indicated the embryo to be female (relative excess of X chromosome material and deficiency of Y chromosome compared with a normal male reference sample). (B) Results from the customized microarray were entirely concordant. Error bars represent the minimum and maximum values obtained from the fluorescence intensity of the probes attached on the microarray after applying the whole-genome amplification samples and the reference sample. Fertility and Sterility 2014 102, 1385-1392DOI: (10.1016/j.fertnstert.2014.07.1233) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Normalized fluorescence intensity values obtained for mtDNA from analysis of polar bodies (PBs), blastomeres, and trophectoderm samples for different age categories. The error bars represent the minimum and maximum values obtained from the fluorescence intensity of the mtDNA specific probes. The black lines inside the box plots represent the median values. Fertility and Sterility 2014 102, 1385-1392DOI: (10.1016/j.fertnstert.2014.07.1233) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 3 Results obtained from application of amplified embryonic DNA on selected single-nucleotide polymorphism (SNP) probes. (A) Embryo compared with matching parents. (B) Embryo compared with nonmatching parents. Results are shown for chromosomes 1, 2, and 3 only; the other chromosomes (4–22, X, and Y) provided similar data. Many SNPs were assessed, but only those that were informative for determining parental inheritance are shown in the figure. Black dots indicate SNPs displaying genotypes consistent with inheritance of one allele from each of the parents, green dots indicate inheritance of a single paternal allele, and yellow dots indicate the presence of a single maternal allele (expected if a SNP is affected by allele dropout or in cases of monosomy or uniparental isodisomy). Brown dots indicate SNPs displaying an apparent inheritance of both paternal alleles with no maternal contribution, and blue indicates the presence of both maternal alleles and an absence of paternal alleles. Pink and purple dots indicate SNPs with mendelian inconsistency (i.e., a pattern of inheritance that is impossible given the genotypes of the two parents—presence of alleles that are not possessed by the parents). Fertility and Sterility 2014 102, 1385-1392DOI: (10.1016/j.fertnstert.2014.07.1233) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions