Single nucleotide polymorphism microarray–based concurrent screening of 24- chromosome aneuploidy and unbalanced translocations in preimplantation human embryos  Nathan R. Treff, Ph.D., Lesley E. Northrop, Ph.D., Khushabu Kasabwala, B.S., Jing Su, M.S., Brynn Levy, Ph.D., Richard T. Scott, M.D.  Fertility and Sterility  Volume 95, Issue 5, Pages 1606-1612.e2 (April 2011) DOI: 10.1016/j.fertnstert.2010.11.004 Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Examples of SNP microarray–based identification of segmental aneusomy in arrested or FISH-diagnosed abnormal embryos derived from patients carrying a variety of balanced translocations. In each case, the karyotype is indicated above the copy number (CN) graphs of two unbalanced embryos. The predicted karyotype of each embryo is indicated within each copy number graph. Segmental aneusomy as small as 13.8 Mb and with as few as 908 SNP probe sets was successfully identified and set as the criterion for performing preimplantation genetic diagnosis in phase II of the present study. Chrom = chromosome; EM = embryo. Fertility and Sterility 2011 95, 1606-1612.e2DOI: (10.1016/j.fertnstert.2010.11.004) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Examples of SNP microarray–based preimplantation genetic diagnosis results from trophectoderm biopsies of developmentally normal blastocysts. Examples include unbalanced embryos (A) and balanced-normal embryos with aneuploidy of chromosomes not involved in the translocation but sometimes screened by FISH (B) and often not screened by FISH (C). Postnatal SNP microarray results from genomic DNA derived from four newborns delivered after preimplantation 24-chromosome aneuploidy and translocation screening are also shown (D). The translocation carrier patient’s karyotype is indicated above each corresponding embryo or newborn’s copy number (CN) graph (A–D). Asterisk indicates that the conventional karyotype confirmed a normal rather than a balanced karyotype, which was of clinical significance because the balanced translocation state was known to cause Alagille syndrome through a microdeletion. Chrom = chromosome. Fertility and Sterility 2011 95, 1606-1612.e2DOI: (10.1016/j.fertnstert.2010.11.004) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 3 Overall outcomes from simultaneous translocation and 24-chromosome aneuploidy screening in 122 developmentally normal blastocysts from couples carrying a translocation. The added analysis of 24-chromosome aneuploidy identified 23 embryos as not suitable for transfer that otherwise would have been selected had only translocation screening been performed. The chromosomes involved in aneuploidy in these 23 embryos also are shown. Chr = chromosome. Fertility and Sterility 2011 95, 1606-1612.e2DOI: (10.1016/j.fertnstert.2010.11.004) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 4 Comparison of the prevalence of unbalanced or aneuploid chromosomes in arrested embryos and developmentally competent blastocysts. Arrested embryos versus developmentally competent blastocysts: P<.0003 for two translocation chromosomes; P<.6576 for 22 chromosomes unrelated to the translocation; P<.0222 for all 24 chromosomes. Fertility and Sterility 2011 95, 1606-1612.e2DOI: (10.1016/j.fertnstert.2010.11.004) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions