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Outcomes of preimplantation Genetic Diagnosis Cycles by Fluorescent In situ Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome

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Chinese Medical Journal 2018年第15期131卷 1808-1812页

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 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

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 *** 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. Co

关键词： 47,XYY Syndrome Fluorescent In situ Hybridization Infertility Pregnancy Outcome preimplantation geneticdiagnosis

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