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目的探讨胎儿前脑无裂畸形(HPE)的临床特征和孕期超声诊断的临床价值。方法回顾性分析67 661例于孕11+6周以上进行产前超声系统筛查胎儿HPE的孕妇,并分析胎儿HPE的检出率。结果共筛查出HPE胎儿25例,均合并各种多发性畸形。其中,22例合并面部畸形,15例合并脑积水,5例合并先天性心脏病。其中非意愿受孕17例。结论早中晚孕联合筛查具有早期发现胎儿HPE的重要临床价值;合并面部畸形是超声诊断和鉴别诊断的重要特征。非意愿受孕者应作为筛查的高危人群。
Objective To investigate the clinical features of fetal anterior segment malformation (HPE) and the clinical value of ultrasonic diagnosis during pregnancy. Methods A retrospective analysis of 67 661 pregnant women with fetal HPE screening for prenatal ultrasound at 11 + 6 weeks of gestation was performed. The detection rate of fetal HPE was analyzed. Results A total of 25 fetuses with HPE were screened, all with multiple multiple deformities. Among them, 22 cases with facial deformity, 15 cases of hydrocephalus, 5 cases of congenital heart disease. Among them, 17 cases were unintended to conceive. Conclusion The combined screening of early, middle and late pregnancy has the important clinical value of early detection of fetal HPE. Combined facial deformity is an important feature of ultrasonic diagnosis and differential diagnosis. Unintended pregnancy should be used as a screening high-risk population.