胎儿先天性心脏病(简称先心病)是严重影响围生儿结局的重要原因之一.近年来,随着分子遗传学技术的开展,胎儿先心病的产前诊断已取得了突破性进展,对先心病胎儿进行靶向基因测序能显著提高染色体拷贝数变异的检出率,有利于产前临床咨询中正确评估胎儿的预后,为孕妇是否继续妊娠提供更客观的依据.%Fetal congenital heart disease is one of the important reasons that seriously affect the outcome of perinatal children.In recent years,with the development of molecular genetic technology,prenatal diagnosis of fetal congenital heart disease has made breakthrough progress.Targeted panel sequencing of congenital heart disease fetus can significantly improve the detection rate of chromosome copy number variations.It is helpful to correctly assess the prognosis of the fetus in prenatal clinical consultation and provide a more objective basis for pregnant women to continue their pregnancy.
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