Outcomes of 13 ICSI-PGD cycles with ejaculated spermatozoa in patients with Klinefelter syndrome.

There were total 24 embryos transplanted in 14 embryo transfer cycles (1.47 ± 0.75 embryos per transfer). There were 12 biochemical pregnancies obtained (85.71% per transfer cycle), 14 embryos implanted (58.33% per transferred embryo), and there were 11 clinical pregnancies with births of 3 healthy boys and 8 healthy girls and 3 ongoing clinical pregnancies (78.57% per transfer cycle). And, no patient underwent prenatal diagnosis which was recommended strongly or karyotype detection of newborns. There are 90 embryos with two sex chromosomal signals among 103 embryos with clear diagnosis (87.38%), and the number of those with XX is 49, slightly more than those with XY (41). 13 abnormal embryos are with one, three, or four sex chromosomal signals (3 with X, 1 with XYY, 3 with XXY, 4 with XXX, and 2 with XXYY). In 2003, Staessen et al. demonstrated their embryonic detection outcomes with Fluorescence In Situ Hybridization (FISH) that the proportion of normal embryos (54%) is significantly lower than controls (77.2%), who are with X-linked disease in need of PGD to determine gender. Among the abnormal embryos, the rate of sex chromosomal abnormalities is 13.2%, much higher than controls (3.1%). The other study in 2003 found that in embryos detected for chromosomes 13, 18, 21, X and Y, 14 out of 23 embryos were diagnosed as normal (60.9%), and 5 in 28 (17.8%) were diagnosed as abnormal with sex chromosomal abnormalities. 2 In our study, embryos were analyzed only for sex chromosomes, and the proportion of abnormal embryos is 12.62% (13 in 103). And, there is no statistically significant difference between our outcomes and those we have mentioned 1,2 (Chi-square test, in Table 1). Considering one patient is mosaic, the proportion of abnormal embryos is 12.62% if we take him into consideration (13 in 103); while it is 11.76% if we exclude him (10 in 85). There is also no statistically significant difference compared with the historical data (Chi-square test: P = 0.752, P = 0.615, respectively). As both historical studies above were almost those with TESE, the comparison result also implies that the proportion of abnormal embryos from ejaculated spermatozoa is comparable with those from TESE, at least for sex chromosomes. In addition, excluding the couple in our study beyond 35 years old, the proportion of abnormal embryos is 11.76% (10 out of 85), much higher than the embryonic aneuploidy rate of sex chromosomes (3.4%, 235 out …