简介:AbstractObjective:This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis.Methods:In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results:The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism.Conclusion:This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.
简介:新一代轮胎产品VEUROVE303通过对以往产品的优化以及新技术的运用,在静音、舒适、经济性以及湿地性能方面有着显著的提升,尤其是其出色的静音性更可谓是为豪华车型量身打造,是中高级车型消费者的新选择。近期,我们忠实的读者陈先生向我们求助,表示想给自己的爱车奥迪A4L更换四条新胎,具体要求是:必须得安全、驾乘要舒适静音、具有好的操控性、要耐磨省油、最好是欧系品牌、价格也不能太贵等。综合陈先生的要求,我们反复考量,最终我们给出
简介:摘要:TSP303系统是瑞士Amberg工程技术公司最新研制并拥有专利的隧道地震探测仪,专门为隧道超前地质预报而设计的。该系统从数据采集、处理和成果评估高度智能化。采用该系统可以预报隧道工作面前方至少100m围岩地质体的性质、位置和规模,并可算出其岩石物理力学参数,为确定合理的支护参数提供依据,确保隧道施工安全和质量。本文对TSP303系统的工作原理、仪器设备、数据采集及应用实例做了详细的阐述。
简介:摘要目的比较高龄产妇在妊娠合并症及并发症、围产儿结局及分娩方式等方面与适龄产妇的差异。方法回顾性分析2016年12月至2017年2月在昆山市第一人民医院产科住院收治分娩的1 303例高龄产妇作为研究组,其中35~39岁的1 139例为研究组1,≥40岁的164例为研究组2,随机抽取同期分娩的年龄<35岁的产妇1 303例为对照组,分娩孕周均≥28周。分析3组产妇妊娠合并症及并发症、围产儿结局、分娩方式等的差异。结果与对照组相比,研究组妊娠期高血压疾病、妊娠期糖尿病、妊娠合并甲状腺功能减退、前置胎盘、子宫肌瘤以及早产、胎儿窘迫、巨大儿及剖宫产率增高,差异有统计学意义(P<0.05);三组间妊娠期肝内胆汁淤积症、胎膜早破、产后出血、卵巢囊肿、低出生体重儿及死胎差异无统计学意义(P>0.05)。结论高龄产妇妊娠后母儿风险增加,剖宫产率高,提倡适龄生育并加强对高龄产妇的孕期监督和管理,以保障母婴安全。