Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid? M. Cristina Magli, M.Sc., Alessandra Pomante,

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Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid? M. Cristina Magli, M.Sc., Alessandra Pomante, Ph.D., Giulia Cafueri, B.Sc., Marzia Valerio, B.Sc., Andor Crippa, Ph.D., Anna P. Ferraretti, M.D., Luca Gianaroli, M.D. Fertility and Sterility Volume 105, Issue 3, Pages 676-683.e5 (March 2016) DOI: 10.1016/j.fertnstert.2015.11.018 Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Presence of DNA in 116 BFs detected by WGA. (A) The percentage of BFs resulting in positive amplification increased significantly throughout time, indicating a learning curve. (B) Blastocyst morphology and hours postinsemination were related to DNA amplification. Expanded day 5 blastocysts showed the highest chances of having DNA in the BF. Fertility and Sterility 2016 105, 676-683.e5DOI: (10.1016/j.fertnstert.2015.11.018) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Detection of segmental abnormalities. (A) Embryo generated from a carrier of the translocation 46XX,t(3;8)(p25;q12) with an unbalanced rearrangement for chromosome 8 and aneuploidy for chromosome 15 (-15) evidenced by the result in the blastomere. The same condition was detected in BF, TE, and the WE. The analyses of both blastomere and BF were performed by 24Sure+, while 24Sure was used for TE cells and WE. (B) Detection of segmental abnormality in a couple with a normal karyotype. The PBs predicted an embryo with a condition unbalanced for chromosome 4 and aneuploid for chromosome 16. This condition was also detected in BF, TE, and WE. Fertility and Sterility 2016 105, 676-683.e5DOI: (10.1016/j.fertnstert.2015.11.018) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 3 Detection of segmental abnormality in a carrier of the translocation 46XX,t(5;10)(q13;p12). The embryo, as evidenced by the result from the blastomere, had the unbalanced rearrangement for chromosome 10 (+10p11.23-10q26.3) associated with aneuploidy for chromosomes 20 and 16 (+20; −16). The same condition was detected in BF and the WE, although here the whole chromosome 10 was in gain, while TE cells turned out to be euploid. Fertility and Sterility 2016 105, 676-683.e5DOI: (10.1016/j.fertnstert.2015.11.018) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 1 Results of ploidy and chromosome concordance. No differences were found when comparing the results from BFs with those predicted by PBs, blastomeres, and TE cells. Fertility and Sterility 2016 105, 676-683.e5DOI: (10.1016/j.fertnstert.2015.11.018) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions