泌尿系统结构异常胎儿的染色体微阵列分析

Analysis chromosome microarray of fetuses with urinary abnormalities

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. Method 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.