目的 分析aCGH在泌尿系统结构异常胎儿产前诊断的应用价值。方法 回顾性分析87例产前超声诊断为泌尿系统结构异常的胎儿的aCGH结果，所有病例行介入性产前诊断且染色体核型正常。结果 87例胎儿aCGH结果中，致病性CNVs的检出率为5.7%（5/87），VOUS的检出率为3.4%（3/87），良性CNVs的检出率为91%（79/87）。单独泌尿系统结构异常aCGH的致病性CNVs检出率为2.9%（2/70）；泌尿系统结构异常合并泌尿系统外超声结果异常CNVs的检出率为17.6%（3/17）。结论 对于产前超声提示泌尿系统结构异常的胎儿，即使染色体核型正常，aCGH也可能检出异常，对于产前超声提示胎儿泌尿系统结构异常的胎儿建议行aCGH检查。
Objective To analyze the correlation fetal anomalies of the kidney and aCGH. Methods A retrospective study of aCGH of outcomes of 87 cases with CAKUT and normal karyotypes. Results In 87 cases, detection rate of pathogenic CNVs, VOUS and benign CNVs were 5.7%（5/87）91%, 3.4%（3/87）and（79/87）respectively. Isolated CAKUT rate of pathogenic CNVs were 2.9%（2/70）,CAKUT combined with other ultrasound abnormalities case rate of pathogenic CNVs were 17.6%（3/17）.Conclusions ACGH analysis should be offered to all case with CAKUT.
