颅面部五切面法在11~13+6周胎儿颅面部畸形诊断中的应用价值

目的探讨颅面部五切面法在早孕期胎儿颅面部畸形诊断中的应用价值。 方法回顾性选取2020年1月至2021年1月在四川省妇幼保健院行早孕期超声检查的孕妇9183例，所有孕妇均于孕11~13⁺⁶周行超声检查，应用颅面部五切面法观察胎儿颅面部形态、结构等，并对分娩后新生儿及引产后胎儿进行随访。 结果9183例孕妇均可获得满意的颅面部五切面，最终诊断颅面部异常52例，孕11~13⁺⁶周检出42例（80.7%，42/52），其中无叶全前脑15例（喙鼻9例，独眼4例），唇腭裂畸形5例，露脑畸形12例，无脑儿4例，脑膜脑膨出3例，开放性脊柱裂3例，42例均经引产后尸解或临床随访证实胎儿颅面部异常。10例早孕期未检出，于孕中期超声检查检出，包括小眼畸形2例，小耳畸形3例，单纯唇裂畸形3例，面裂畸形1例，鼻翼部分缺损1例。 结论胎儿颅面部五切面法能较全面评价胎儿颅脑及颜面部，是早孕期筛查胎儿颅面部畸形的有效方法。

Value of craniofacial five-view method in diagnosis of fetal craniofacial malformations at 11-13+6 weeks of gestation

ObjectiveTo assess the clinic value of craniofacial five-view method in the screening of craniofacial malformation in fetuses at 11-13⁺⁶ weeks of gestation. MethodsA retrospective study was performed on 9183 pregnant women who underwent ultrasound examination during early pregnancy at Sichuan Maternal and Child Health Hospital from January 2020 to January 2021. All pregnant women underwent ultrasound examination at 11~13⁺⁶ weeks of gestation. The craniofacial five-view method was used to screen fetal craniofacial malformations. All neonates and induced fetuses were followed after delivery. ResultsSatisfactory craniofacial five-view images were obtained in 9183 pregnant women. A total of 52 congenital craniofacial malformations were found, of which 42 congenital craniofacial malformations were found at 11-13⁺⁶ weeks of gestation (80.7%, 42/52), including 15 cases of anencephaly (9 cases of rhinoceros, 4 cases of cyclops), 5 cases of cleft lip and palate deformity, 12 cases of exposed brain malformation, 4 cases of anencephaly, 3 cases of meningocele, and 3 cases of open spina bifida. Craniofacial malformations were confirmed by autopsy or clinical follow-up in 42 cases. Ten cases were not detected in the early pregnancy, but detected by ultrasound in the middle of pregnancy, including 2 cases of microphthalmia, 3 cases of microtia, 3 cases of simple cleft lip deformity, 1 case of facial cleft deformity, and 1 case of partial alar defect. ConclusionThe fetal craniofacial five-view method at the first trimester can more comprehensively evaluate the fetal skull, brain, and face, and is a good method for screening fetal craniofacial malformations in early pregnancy.