摘要
目的分析先天性肾发育异常胎儿的遗传学检查结果。方法选取2019年1月~2023年12月在我院产前诊断中心实施侵入性诊断的先天性肾发育异常胎儿样本118例或父母外周血样本。根据有无肾外异常将接受染色体核型检测的92例胎儿样本(A组)分为3组,第1组为先天性肾发育异常组(A1组,n=67),第2组为先天性肾发育异常合并软指标组(A2组,n=14),第3组为先天性肾发育异常合并其他系统畸形组(A3组,n=11)。根据先天性肾发育异常类型将52例含致病性拷贝数变异(CNVs)的胎儿样本分为12类。将接受全外显子组测序(WES)检测的26例胎儿及核心家系样本(B组)分成2组,G1组(n=21)对胎儿样本给予测定,G2组(n=5)对核心家系给予测定。对染色体核型分析、染色体微阵列分析(CMA)及WES等遗传学检查结果进行分析。结果A3组的染色体核型异常率较A1组高(P<0.05)。A3组进行CMA检测的比例最高[9例(81.82%)](P<0.05)。接受CMA检测的52例胎儿样本的致病性CNVs检出率比较,A3组较A1组高(P<0.05)。G1组和G2组的WES检测结果比较,无显著差异(P>0.05)。结论染色体核型分析、CMA及WES等遗传学检查方式应用于先天性肾发育异常的产前诊断具有优势互补的作用。
Objective To analyze the genetic examination results of fetuses with congenital renal dysplasia.Methods A total of 118 fetal samples of congenital renal dysplasia and peripheral blood samples of their parents were selected from January 2019 to December 2023 in the prenatal diagnosis center of our hospital.92 cases fetal samples(group A)were divided into three groups based on extra-renal abnormalities.The first group was congenital renal dysplasia group(group A1,n=67),the second group was congenital renal dysplasia with soft indicators group(group A2,n=14),and the third group was congenital renal dysplasia with other system malformations(group A3,n=11).According to the types of congenital renal dysplasia,52 fetal samples containing pathogenic CNVs were divided into 12 categories.26 fetal samples(group B)from fetal and nuclear families who underwent whole exome sequencing(WES)were divided into two groups.Group G1(n=21)was used for fetal samples,and group G2(n=5)was used for nuclear families.The results of chromosome karyotype analysis,chromosome microarray analysis(CMA)and WES were analyzed.Results The abnormal rate of chromosome karyotype in group A3 was higher than that in the group A1(P<0.05).The proportion of CMA detection in group A3 was the highest[9 cases(81.82%)](P<0.05).The detection rate of pathogenic CNVs in 52 fetal samples tested by CMA was higher in group A3 than in group A1(P<0.05).There was no significant difference in WES detection results between G1 group and G2 group(P>0.05).Conclusion Chromosome karyotype analysis,CMA and WES have complementary advantages in the prenatal diagnosis of congenital renal dysplasia.
作者
赵婧
朱玲
杨海鑫
梁少霞
郑国兵
ZHAO Jing;ZHU Ling;YANG Hai-xin(Prenatal Diagnosis Center of Boai Hospital in Zhongshan City,Zhongshan 528400,China)
出处
《医师在线》
2024年第9期69-72,共4页
Journal of Doctors Online
基金
中山市社会公益科技研究项目(2022B1006)。
