摘要
Background： The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization （FISH） and preimplantation genetic diagnosis （PGD） treatment. Methods： This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student＇s t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher＇s exact test when expected cell count was 〈5. Results： The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis （65.4%）. The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 （10.4%）, 14 （3.2%）, 24 （5.5%）, and 67 （15.5%）, respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 （57.4%）, including implanted embryos on day 4/day 5 a.ld cryopreserved. The rates of good-quality embryos in the no nuclei fixed （22.2%）, no signal in fixed nuclei （28.6%）, and suspensive signal groups （33.3%） were comparable （P 〉 0.05）, and were significantly lower than the normal signal group （66.4%, P 〈 0.001 ）. The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively. Conclusions： Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcomes.
Background： The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization （FISH） and preimplantation genetic diagnosis （PGD） treatment. Methods： This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student＇s t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher＇s exact test when expected cell count was 〈5. Results： The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis （65.4%）. The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 （10.4%）, 14 （3.2%）, 24 （5.5%）, and 67 （15.5%）, respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 （57.4%）, including implanted embryos on day 4/day 5 a.ld cryopreserved. The rates of good-quality embryos in the no nuclei fixed （22.2%）, no signal in fixed nuclei （28.6%）, and suspensive signal groups （33.3%） were comparable （P 〉 0.05）, and were significantly lower than the normal signal group （66.4%, P 〈 0.001 ）. The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively. Conclusions： Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcomes.
作者
Chao Xu
Fang-Fang Zhang
Hong-Chang Li
Miao-Miao Wang
Yue-Ting Zhu
Wen-Jie Jiang
Yue Wang
Hao-Bo Zhang
Rong Tang
Gang Ma
Jun-Hao Yah
Chao Xu;Fang-Fang Zhang;Hong-Chang Li;Miao-Miao Wang;Yue-Ting Zhu;Wen-Jie Jiang;Yue Wang;Hao-Bo Zhang;Rong Tang;Gang Ma;Jun-Hao Yan(Center for Reproductive Medicine,Shandong University,Jinan,Shandong 250001,China;National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Jinan,Shandong 250001,China;The Key Laboratory for Reproductive Endocrinology of Ministry of Education,Jinan,Shandong 250001,China;Department of Urology,Qilu Hospital of Shandong University,Jinan,Shandong 250012,China;Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University,Jinan,Shandong 250001,China)
基金
This study was supported by grants form Nationl Key Research and Development Program（No.2016YFC1000202）,National Natural Science Foundation of China（No.81671522）,and Shandong Medical and Health Science and Technology Development Plan （No.2016WS0370）.
