超声结合血清学筛查Dandy-Walker综合征效果

Clinical value of ultrasound combined with serology ical detection for screening fetuses with Dandy-Walker syndrome

目的:探讨超声结合血清学检查在Dandy-Walker综合征胎儿中的筛查效果。方法:选择2015年7月—2019年6月本院诊断胎儿为Dandy-Walker综合征46例临床资料进行回顾性分析,孕妇均完成超声和血清学甲胎蛋白(AFP)、游离β-促绒毛膜性腺激素(F-β-HCG)、游离雌三醇(F-uE3)检查,对不同孕周超声检查的小脑蚓部测量值进行比较;绘制ROC曲线,分析不同检查方法诊断胎儿Dandy-Walker综合征效能。结果:46例畸形胎儿超声检查确诊率(36例,78.3%)低于超声联合血清检查(42例,91.3%)(P<0.05);随着孕妇孕周的增加,胎儿小脑蚓部宽度、小脑蚓部前后径及小脑蚓部上下径的值随之增加(P<0.05);46例Dandy-Walker综合征胎儿中,小脑蚓部缺失或发育不良20例,第四脑室扩张14例,后颅窝池增宽12例,超声图像显示胎儿小脑蚓部缺失,后颅窝囊肿。血清AFP、F-β-HCG、F-uE3水平分别为21.489IU/ml、9.335mg/L、8.720ng/ml。ROC曲线结果,超声联合血清学检查诊断Dandy-Walker综合征的敏感性(91.5%)、特异性(89.5%)高于单一方法检测(P<0.05)。结论:超声联合血清学筛查有助于胎儿颅内结构发育异常的定性检查,且方法为无创、安全、有效。

Objective:To investigate the effect of ultrasound combined with serological examination for screening fetus with Dandy-Walker syndrome.Methods:A retrospective analysis of 46 pregnant women with fetal Dandy-Walker syndrome diagnosed by multiple screenings from July 2015 to June 2019 was performed.All pregnant women had completed ultrasound measurement,and serological detection,such as the levels detection of alpha fetal protein(AFP),freeβ-chorionic gonadotropin(F-β-HCG),and free estriol(F-uE3).The diagnostic results of the futal cerebellar vermis measurements by ultrasound of women during different gestational weeks were compared.The ROC curve was drawn to analyze the efficacy of different examination methods for diagnosting Dandy-Walker syndrome of fetus.Results:In 46 malformation fetuses,the comfirmed rate diagnosed by ultrasound(36 cases,78.3%)were significant lower than that(42 cases,91.3%)diagnosed by ultrasound combined with serological detection(P<0.05).The increasing of gestational weeks of the fetus,the width of the cerebellar vermis,the anteroposterior diameter of the cerebellar vermis,and the up and down diameter of the the cerebellar vermis had increased(P<0.05).In 46 fetuses with Dandy-Walker syndrome,there were 20 fetuses with the cerebellar vermis loss or dysplasia,14 fetuses with the fourth ventricle dilatation,and 12 fetuses with the posterior fossa pool widening.The ultrasonographic image showed that the fetuses with the cerebellar vermis missing or the posterior fossa cyst.their serum levels of AFP,F-β-HCG,and F-UE3 were 21.489IU/mL,9.335mg/L,and 8.720ng/ml,respectively.The results of ROC curve showed that the sensitivity and the specificity of ultrasound combined with serology detection for diagnosing Dandy-Walker syndrome were 91.5%and 89.5%,which were significant higher than those of ultrasound or serological detection alone(P<0.05).Conclusion:Ultrasound combined with serological detection is helpful for the qualitative examination of fetal intracranial structural abnormalities with noninvasive,safety and effectiveness,which can provide evidences for eugenics.