Increased chromosome 16 disomy rates in human spermatozoa and recurrent spontaneous abortions  Michaela Neusser, Ph.D., Nina Rogenhofer, M.D., Stephanie Dürl, Dipl.-Biol., Robert Ochsenkühn, M.D., Matthias Trottmann, M.D., Vindi Jurinovic, Dipl.-Math., Ortrud Steinlein, M.D., Viktoria von Schönfeldt, Ph.D., Stefan Müller, Ph.D., Christian J. Thaler, M.D., M.I.A.C.  Fertility and Sterility  Volume 104, Issue 5, Pages 1130-1137.e10 (November 2015) DOI: 10.1016/j.fertnstert.2015.07.1160 Copyright © 2015 Terms and Conditions

Figure 1 Representative fluorescence in situ hybridization (FISH) experiments to (A, B) metaphase controls and (C–E) spermatozoa nuclei. (A) FISH using differentially labeled BAC probes from the L-probe set for chromosomes 14, 15, and 16 and (B–E) of (peri)-centromeric alphoid probes from the C-probe set for chromosomes 6, 7, and 8. Fertility and Sterility 2015 104, 1130-1137.e10DOI: (10.1016/j.fertnstert.2015.07.1160) Copyright © 2015 Terms and Conditions

Figure 2 Summary of aneuploidy and diploidy rates observed in spermatozoa from healthy control individuals from the literature (red), in healthy controls from the study presented here (green) and in males from couples with recurrent spontaneous abortions from our study (“RSA-males,” blue). Red and green arrowheads indicate significantly increased disomy rates in men in couples with recurrent spontaneous abortions (RSA) compared with control cohorts from the literature (see Supplemental Table 1) and with internal controls, respectively. Fertility and Sterility 2015 104, 1130-1137.e10DOI: (10.1016/j.fertnstert.2015.07.1160) Copyright © 2015 Terms and Conditions

Figure 3 Sperm disomy and diploidy rates in male partners P1–P11 from recurrent spontaneous abortions (RSA) couples analyzed in our study. Statistically significant increases in patients were determined by comparison with control cohorts using the cutoff MV controls + 2 × SD controls (P≤.05) are highlighted by color coded boxes (green = compared with literature controls; orange = compared with internal controls; yellow = compared with literature and internal controls). MV = mean value; SD = standard deviation. Fertility and Sterility 2015 104, 1130-1137.e10DOI: (10.1016/j.fertnstert.2015.07.1160) Copyright © 2015 Terms and Conditions

Supplemental Figure 1 Examples for receiver operating characteristic curves, indicating (A and B) chromosomes with high sensitivity detecting increased aneuploidy rates in recurrent spontaneous abortion (RSA) patients, and (C and D) chromosomes with low inferred detection rates, when (A and C) comparing RSA patients with literature controls; and (B and D) comparing RSA patients with internal controls. Fertility and Sterility 2015 104, 1130-1137.e10DOI: (10.1016/j.fertnstert.2015.07.1160) Copyright © 2015 Terms and Conditions

Supplemental Figure 2 Summary of area under the curve (AUC) values retrieved from receiver operating characteristic curves as a measure for chromosomes with high sensitivity detecting increased aneuploidy rates in recurrent spontaneous abortions (RSA) patients. Included are chromosomes with AUC values greater than 0.5, where RSA patients showed higher mean aneuploidy rates than healthy controls. Fertility and Sterility 2015 104, 1130-1137.e10DOI: (10.1016/j.fertnstert.2015.07.1160) Copyright © 2015 Terms and Conditions