摘要目的：分析非免疫性胎儿水肿病例中染色体异常及拷贝数变异的发生率，探讨染色体微阵列技术（ chromosomal micro-array analysis ， CMA ）在非免疫性胎儿水肿查因中的应用。方法对超声诊断为胎儿水肿的46例患者，通过检测母胎 Rh 血型和抗 D 抗体、ABO 血型及其他相关抗体排除了免疫性水肿因素，计算染色体异常及拷贝数变异比例并对其临床资料进行回顾性分析。结果46例胎儿水肿患者中行脐带血检查的21例（45.65％），羊水检查的16例（34.78％），绒毛检查的9例（19.57％）。 CMA 检测异常的25例（54.35％），其中7例（15.22％）为 X 单体，3例（6.52％）为21三体，2例（4.35％）为18三体，1例（2.17％）为 XXX（47，XXX），12例（26.09％）为微缺失或微重复。结论染色体异常是导致非免疫性胎儿水肿发生的重要原因之一，其中X 单体、21三体和18三体是三大主要因素。对于非免疫性胎儿水肿的病例，应用 CMA 检测可以替代染色体核型分析，且可做到及早发现、及时处理。

abstractsObjective To analyze the incidence of chromosome abnormality and copy number variation ( CNV ) in non-immune hydrops fetalis , and discuss the role of chromosomal micro-array analysis ( CMA ) in prenatal diagnosis of non-immune hydrops fetalis .Methods Forty-six cases who were diag-nosed by ultrasound as Schridde syndrome were chosen .They were not caused by the immune factors jud-ging through detecting the maternal and fetal Rh blood type , anti-D antibody , ABO blood type and other related antibody .We also calculated the ratio of fetuses with chromosome abnormality and CNV , and then analyzed their clinical data .Results Twnty-five ( 5 4.3 5%) cases with chromosome abnormality and CNV were confirmed by CMA , including 7 ( 1 5.2 2%) cases of X monomer ( 4 5 , XO ) , 3 ( 6.5 2%) cases of Trisomy 2 1 , 2 ( 4.3 5%) cases of Trisomy 1 8 , 1 ( 2.1 7%) cases of XXX Syndrome ( 4 7 , XXX ) and 1 2 ( 2 6.0 9%) cases with chromosomal micro deletion or micro duplication .Conclusion Chromosome abnormality is one of the important causes leading to non -immune hydrops fetalis . Among them , X monomer , Trisomy 2 1 and Trisomy 1 8 are the three main factors that cause non-immune hydrops fetalis .For the case of non immune hydrops fetalis , CMA can substitute the use of karyotype analysis , while promoting identification of the etiology and treatment in time .