心血管疾病专栏

SNParray分析技术在胎儿先天性心脏病诊断中的价值

  • 王桂喜 ,
  • 孙锟 ,
  • 孔令晖 ,
展开
  • 1 .临沂市妇幼保健院(山东临沂 276000);2 .上海交通大学医学院附属新华医院(上海 200092)

网络出版日期: 2021-09-28

基金资助

临沂市重点研发计划项目(No. 2017 ZK 002)

Value of SNP array analysis in diagnosis of fetal congenital heart disease

  • WANG Guixi ,
  • SUN Kun ,
  • KONG Linghui ,
  • et al
Expand
  • 1 .Linyi Maternal and Child Health Care Hospital, Linyi 276000 , Shandong, China; 2 .Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Online published: 2021-09-28

摘要

目的 探讨单核苷酸多态性微阵列(SNP array)分析技术在先天性心脏病产前诊断中的应用价值。方法 选 择因胎儿CHD和/或超声软指标阳性再行产前诊断的孕妇及胎儿200例,行羊水细胞检查染色体核型和SNP array分析, 分析两种技术的检出率并判断拷贝数变异的性质。结果 普通染色体核型仅检出1例染色体异常,SNP array技术检出22 例,其中11例为致病性拷贝数变异,11例为临床意义不明确的CNVs。结论 SNP技术可明显提高检出率,对于核型正常 的先天性心脏病胎儿具有重要的应用价值。

本文引用格式

王桂喜 , 孙锟 , 孔令晖 , . SNParray分析技术在胎儿先天性心脏病诊断中的价值[J]. 临床儿科杂志, 2021 , 39(10) : 726 . DOI: 10.3969/j.issn.1000-3606.2021.10.002

Abstract

Objective To explore the application value of single nucleotide polymorphism (SNP) microarray in the prenatal diagnosis of fetal congenital heart disease. Methods A total of 200 pregnant women and fetuses were selected for prenatal diagnosis due to fetal congenital heart disease and/or positive ultrasound soft indicators. Chromosome karyotype and SNP array analysis were performed in amniotic fluid cells to analyze the detection rate of the two techniques and to determine the nature of copy number variation. Results Only 1 case of chromosome abnormality was detected by common karyotype, and 22 cases were detected by SNP array technique, among which 11 cases were pathogenic copy number variation (CNVs) and 11 cases were CNVs with unclear clinical significance. Conclusions SNP technology can significantly increase the detection rate, and has important application value for fetuses with congenital heart disease with normal karyotypes.
文章导航

/