172例先天性心脏异常胎儿遗传学检测分析.PDFVIP

江医学2018 年第40 卷第 14期 172 例先天性心脏异常胎儿遗 传学检测分析 李小妹 付春云 龙喜贵 王立芳 蒙达华 曾尚娟 莫梅珍 王张红 罗仕玉 李奇 黄丽利 聂大燕 佘尚扬 李颖丰 胡雪桦 马刚 摘要 】 目的 分析胎儿先天性心脏异常的遗传学检测结果及妊娠结局。方法 对 172 例产前超声检查心脏异常胎儿的 超声征象、遗传学检测结果及妊娠结局进行回顾性分析。结果 172 例产前超声检查心脏异常胎儿经遗传学检测分析，检出染色体数 目异常51 例，染色体结构异常6 例，致病性拷贝数变异5 例，共检查出阳性62 例，阳性检出率达36.0%。62 例阳性检出胎儿全部引 产；110 例检测未见异常者有23 例直接引产，45 例顺产或剖腹产，剩余42 例妊娠结局尚且待定。结论 36.0%的先天性心脏异常胎 儿 有阳性遗传学检出结果，主要以染色体数目异常为主要病因。产前超声筛查及遗传学分析可早期发现胎儿心脏及其它先天异常， 能有效降低先天畸形胎儿出生率，并为临床医生进行相应处理提供指导。 关键词】 产前超声 遗传 胎儿 先天性心脏畸形 Genetic testing and pregnant outcomes of congenital heart disease: an analysis of 172 cases China Abstract 】 Objective To examine the genetic testing and pregnancy outcomes of fetuses with congenital heart defects (CHD). Methods The ultrasonographic features, genetic testing and pregnancy outcomes of 172 fetuses with CHD were retrospectively analyzed. Results Of the 172 CHD fetuses diagnosed by untrasonography, 51 cases were genetically identified as aneuploidy, 6 as abnormality of chromosomal structure and 5 as pathogenic copy-number variations (CNVs) , with a detection rate of 36% . The induced labor was performed in these 62 positive cases. Among 110 fetuses with negative genetic findings, there were 45 cases born by spontaneous delivery or caesarean section, 23 cases of induced labor, and 42 cases of unknown pregnancy outcomes. Conclusion Among ultrasonography-diagnosed CHD fetuses , 36% have positive genetic testing and aneuploidy is the leading finding in this series . The study suggests that prenatal ultrasonography and genetic testing may be effective to reduce the birth rate of CHD fetuses. Key words 】 Prenatal ultrasound Genetics Fetus Congenital heart defects 胎儿先天性心脏畸形（congenital heart defect ，CHD ） 降低心脏缺陷胎儿出生率、疾病的遗传咨询等具有重要 是常见的胎儿结构性异常，发病率居出生缺陷的首位，也 的临床意义。目前关于CHD 的发病机制尚不明确，遗传