背景:具有正常表型和青春期发育的镶嵌型特纳综合征患者可根据因反复流产或反复种植失败而进行的核型检查来诊断;但根据文献综述,这些病例的生殖和产科后果基于病例报告。关于这个主题,有矛盾的出版物建议植入前基因检测(PGT)可能是降低胎儿高风险并进行正常胚胎移植的解决方案。
目的:在本研究中,我们的目的是评估低级别和高级别马赛克特纳综合征患者的体外受精和胚胎植入前遗传学诊断结果.
方法:我们回顾性收集了2012年至2018年单个中心的患者数据。这项研究分析了36名马赛克特纳综合征患者,谁,10名患者被评估为高,26例患者被评估为特纳综合征的低级马赛克模式。
结果:平均年龄(35,46±0,87vs.36,2±1,85)体重指数(25,26±0,74vs.30,8±0,63)基线卵泡刺激素(5,73±0,74vs.6,70±1,17)基础黄体生成素(4,78±0,43vs.4,92±0,99)两组之间相似。在高级马赛克特纳综合征患者中,刺激持续时间(7,60±0,16vs.8,0±0,28,p<0,001),促性腺激素总剂量(1540,0±165,12vs.2046,15±111,47,p<0,001)和正常核型胚胎的数量在统计学上显着增加(1,58±0,17vs.2,00±0,55,p<0,001)。低级和高级马赛克特纳综合征患者的妊娠率分别为30,8%和30%,(p=0.76)。IVF结果也通过三倍体是否伴随特纳综合征的存在进行评估。在存在一个或两个X染色体的情况下,研究中纳入的研究均不能实现活产.胚胎中最常见的异常是染色体13的单体和三体。在30%的案例中,有2或3个异常一起出现。在有2个异常染色体的胚胎中,最常见的2异常是13和21三体,而13三体,X三体和18三体在3个或更多的异常中发现,分别。
结论:在镶嵌型特纳综合征患者的不孕症治疗中,应考虑体外受精和植入前遗传学诊断。
BACKGROUND: Patients with mosaic Turner syndrome who have normal phenotype and pubertal development may be diagnosed based on karyotype examination which is performed due to recurrent abortion or recurrent implantation failure; but according to the literature review, reproductive and obstetric consequences of these cases are based on case reports. There are contradictory publications on this subject recommending pre-implantation genetic testing (PGT) may be a solution to reduce the high risk for the fetus and perform normal embryo transfer.
OBJECTIVE: In this
study, our aim was to evaluate the results of in vitro fertilization and preimplantation genetic diagnosis in patients with low-grade and high-grade mosaic Turner syndrome.
METHODS: We collected data of patients between 2012 and 2018 from a single center retrospectively. The
study analyzed 36 mosaic Turner syndrome patients, of whom, 10 patients were evaluated as high, 26 patients were evaluated as low-grade mosaic pattern for Turner syndrome.
RESULTS: Mean age (35,46±0,87 vs. 36,2 ± 1,85) body mass index (25,26±0,74 vs. 30,8 ± 0,63) baseline follicle stimulating hormone (5,73±0,74 vs. 6,70±1,17) basal luteinizing hormone (4,78±0,43 vs. 4,92±0,99) were similar between two groups. In the high-grade mosaic Turner Syndrome patients, duration of stimulation (7,60±0,16 vs. 8,0 ± 0,28, p<0,001), total gonadotrophin dose (1540,0 ± 165,12 vs. 2046,15± 111,47, p<0,001) and the number of normal karyotype embryos was statistically significantly higher (1,58±0,17 vs. 2,00±0,55, p<0,001). The Pregnancy rates in the low-grade and high-grade mosaic Turner syndrome patients\' cycles were 30,8% versus 30%, (p = 0.76) respectively. IVF results were also evaluated by the presence of triploidy were accompanying Turner syndrome or not. In the presence of one or 2 X chromosomes, none of the included in the
study could achieve live birth. The most common abnormality in the embryos was monosomy and trisomy of the chromosome13. In 30% of the cases, there were 2 or 3 abnormalities present together. In embryos with 2 abnormal chromosomes, the most common 2 abnormalities were monosomy 13 and trisomy 21, while trisomy 13, trisomy X and monosomy 18 were found in 3 or more abnormalities, respectively.
CONCLUSIONS: In vitro fertilization and Preimplantation genetic diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome.