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2015年7月,一名27岁孙姓孕妇,妊娠18周进行超声检查时发现,胎儿三尖瓣少量反流,膀胱径线增大。患者为首次怀孕,否认家族遗传疾病。查体均未见异常。为查明胎儿病因,哈尔滨市红十字中心医院为该孕妇进行了羊水染色体检查及高通量DNA测序。该院检验科主任陈琳说,经分析,发现胎儿核型为染色体臂间倒位,属于染色体结构畸变之一。
July 2015, a 27-year-old surname pregnant woman, 18 weeks of pregnancy ultrasound examination found that a small amount of fetal tricuspid regurgitation, bladder diameter increases. The patient is pregnant for the first time, denying family genetic disease. Physical examination showed no abnormalities. To identify the cause of fetus, Harbin Red Cross Central Hospital for the pregnant women had amniotic fluid chromosome examination and high-throughput DNA sequencing. Chen Lin, director of the hospital laboratory said that after analysis, found that the fetal karyotype inverted chromosome arm, belonging to one of chromosome structural aberrations.