Down′s综合征:妊娠中期的早期静脉导管血流波形测定与B超筛查的价值初评

Down's syndrome:the value of ductus venous velosity waveform in early second trimester and the second trimester genetic sonogram

目的评价妊娠中期的早期静脉导管血流波形测定与妊娠中期遗传学超声指标与Down′s综合征的关系。方法对239例在复旦大学附属妇产科医院产科门诊登记建卡的孕妇采用GE730超声多普勒仪进行妊娠中期的早期静脉导管血流波形测定与中期妊娠遗传学超声检查和B超排畸筛查,并建议有异常发现者行羊水穿刺染色体检查。所有孕妇均追踪随访至分娩。采用的统计方法为Bayes判别函数分析和方差分析。结果239例受检孕妇中有154例接受妊娠中期的早期静脉导管血流波形测定,157例进行妊娠中期B超筛查,接受羊水穿刺染色体检查者106例,其中有2例为Down′s儿,行中期引产。B超筛查中发现胎儿颈项软组织增厚14例,肠管回声增强6例,脉络膜囊肿7例,心室强光点5例,肾盂增宽5例,胎儿水肿1例。采用Bayes判别函数分析进行统计分析时,仅心室强光点和胎儿水肿可纳入判别分析方程。结果为:正常:Y=0.705+1.024×心室强光点;Down′s:Y=-54.538+43.691×心室强光点+128×胎儿水肿。利用这两个判别函数式可直接计算新检孕妇属于各类的评分,得分最高的一类即该孕妇属于的相应类别。对16例静脉导管血流波形测定的组内变异采用方差分析,无明显统计学差异。结论中期妊娠遗传学超声筛查有利于发现Down′s儿,结合判别分析函数方程可指导是否应该羊水穿刺。

Objetivce：To evaluate the relation between Down＇s syndrome and the ductus venous（DV） velosity waveform in early second trimester and the second trimester genetic sonogram.Methods：239 cases of pregnant women enrolled and plan to delivery in obstetric and gynecology hospital of Fudan university were received the ultrasonic examination including DV velosity waveform in early second trimester and genetic ultrasonic screening during second trimester by Voluson 730 ultrasonic machine of GE company.Fetal chromesome examination via amnion puncture was adviced when any abnormality was found.All women were followed to delivery and the statistic methods were the Bayes canonical discriminant function and variance analysis.Results：During the 239 cases of enrolled pregnant women,154 cases underwent the DV velosity waveform measurement in early second trimester and 157 cases had the ultrasonic screening test during second trimester.106 cases received the amnion puncture and chromesome analysis,2 cases of Down＇s were found.Among the 157 cases of ultrasonic screening examination during second trimester,different abnormalities were found,including 14 cases of nuchal thickening,6 cases of hyperechoic bowel,7 cases of choroid plexus cyst,5 cases of pyelectasis and 0ne case of fetal hydrops.The Bayes canonical discriminant function is as follows：The normal fetus：Y=0.705＋1.024×echogenic intracardiac focus;the Down＇s fetus：Y=-54.538＋43.691×echogenic intracardiac focus＋128×fetal hydrops.No significant statistic differences were found in intraobserver variability of transdominal Doppler velocimetry measurements of the fetal DV via variance analysis,and there was no relation between DV and Down＇s in our research.Conclusion：The second trimester genetic sonogram is useful in detecting Down＇s fetus,and the Bayes canonical discriminant function will help the pregnant woman to decide whether to have the amnion puncture or not.