超声引导脐静脉穿刺取血研究胎儿先天性心脏异常的染色体核型

Fetal karyotyping by color Doppler ultrasound-guided percutaneous umbilical blood sampling with fetuses cardiac anomalies

目的超声引导经腹穿刺脐静脉取胎血对胎儿先天性心脏病(先心病)及其他心脏异常行染色体核型分析。方法对56例经胎儿超声心动图检出心脏异常胎儿在超声引导下,经腹脐静脉穿刺取血行染色体检查。结果56例均成功取血,无明显并发症,其中54例细胞培养成功。检出染色体异常核型6例(占11.1%),正常核型48例(占88.9%);6例异常核型中1例21-三体,2例18三体,1例13-三体,1例47XYY(超雄)综合征,1例XO(先天性卵巢发育不良)综合征。6例术前超声检查除复杂先心病外均合并多脏器畸形。结论超声引导脐静脉穿刺术可清晰显示脐静脉并缩短穿刺时间。胎儿心脏异常的染色体异常发生率与合并多发畸形相关。

Objective To perform fetal karyotyping by percutaneous umbilical blood sampling guided by color Doppler uhrasonography in fetuses with congenital cardiac anomalies. Methods Fetal blood samples obtained by color Doppler ultrasound guided cqrdocentesis in 56 fetuses with cardiac abnormalities detected by fetal echocardiography were taken for karyotyping. Fetuses were monitored post operation. Results The procedures were successfully performed in all cases and no procedure-related complications occurred. Six cases with abnormal karyotypes, 1 trisomy 21,2 trisomy 18,1 trisomy 13,1 trisomy AO and 1 cases 47XYY were identified and pre-operation ultrasonography detected multiple system anomalies besides cardiac anomalies in them. Conclusions Color Doppler ultrasonography facilitated percutaneous umbilical blood sampling by clear umbilical vein imaging and shortening the operation time. Abnormal karyotypes in fetuses with cardiac anomalies seemed to be related with multiple system anomalies.