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目的探讨染色体微阵列分析技术在产前超声提示为先天性心脏病胎儿中的遗传学诊断价值。方法收集154例因产前超声诊断为先天性心脏病的胎儿,取其羊水或脐血行染色体微阵列分析,其中111例病例同时行染色体核型分析。并根据单一心脏结构畸形、多发心脏结构畸形不合并心外畸形、心内合并心外畸形分为3组。结果 154例行染色体微阵列检测的胎儿中,37例结果异常,总致病性拷贝数变异的检出率为24.03%;111例核型分析结果中,共检测到13例异常结果,核型异常检出率为11.71%,两者差别有统计学意义(P=0.029)。单一心脏结构畸形组50例,多发心血管系统异常组57例,心内合并心外畸形组47例。3组染色体微阵列分析结果异常率分别为2%(1/50)、31.58%(18/57)、38.30%(18/47),3组差异有统计学意义(P<0.001)。3组染色体异常率分别为0%(0/39)、10.53%(4/38)、26.47%(9/34),3组差异有统计学意义(P=0.002)。结论先天性心脏病与微重复/微缺失综合征密切相关。与常规染色体核型分析技术相比,染色体微阵列分析技术提高了先天性心脏病胎儿染色体畸变的检出率,有助于临床风险评估及遗传咨询。
Objective To investigate the genetic diagnostic value of chromosome microarray analysis in fetuses with congenital heart disease. Methods A total of 154 fetuses with congenital heart disease diagnosed by prenatal ultrasound were collected. Chromosome microarray analysis was performed on amniotic fluid or umbilical cord blood. 111 cases were analyzed by chromosome karyotype at the same time. And according to a single cardiac structural deformity, multiple structural abnormalities without heart malformations, cardiac malformations were divided into 3 groups. Results Among the 154 fetuses detected by chromosome microarray, 37 cases were abnormal and the total pathogenicity of copy number was 24.03%. Of the 111 cases of karyotype analysis, 13 cases were abnormal and karyotype The abnormal detection rate was 11.71%, the difference was statistically significant (P = 0.029). Fifty patients with single cardiac malformations, 57 patients with multiple cardiovascular abnormalities, and 47 patients with cardiac malformations. The abnormal rates of chromosomal microarray analysis in 3 groups were 2% (1/50), 31.58% (18/57) and 38.30% (18/47), respectively. There were significant differences among the 3 groups (P <0.001). The chromosomal abnormalities rates in the three groups were 0% (0/39), 10.53% (4/38) and 26.47% (9/34), respectively. The differences among the three groups were statistically significant (P = 0.002). Conclusions Congenital heart disease is closely related to micro-repetitive / micro-missing syndrome. Compared with conventional chromosome karyotyping techniques, chromosome microarray analysis improves the detection rate of fetal chromosomal aberrations in congenital heart disease and contributes to clinical risk assessment and genetic counseling.