胎儿单纯腭裂的产前超声诊断

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目的总结胎儿单纯腭裂及合并畸形产前超声声像图特征,并分析产前超声误漏诊胎儿单纯腭裂的原因。方法应用二维及三维超声对3 598例胎儿进行系统检查,采用鼻唇冠状切面、经上颌骨横切面、正中矢状切面、经口裂斜冠状切面对胎儿唇腭部行重点观察,对伴发畸形进行筛查,并与产后或引产后检查结果进行对照分析。结果 3 598例胎儿产前超声检出单纯腭裂11例(0.31%,11/3 598),胎儿单纯腭裂超声声像图表现:(1)Ⅰ°腭裂1例,正中矢状切面声像图显示腭中缝强回声线消失,其上下黏膜仍完整,经口裂硬腭斜冠状切面显示硬腭连续中断,经口裂软腭斜冠状切面显示软腭完整连续,腭垂不能显示。(2)Ⅱ°腭裂3例,经下颌正中矢状切面声像图显示硬腭中缝强回声线变短,后半部分和中线部软腭消失,两侧旁正中矢状切面仍可显示硬腭弧形强回声线,长于腭中缝强回声线,经口裂硬腭斜冠状切面显示硬腭前部强回声线连续,后部强回声线正中出现连续中断,经口裂软腭斜冠状切面显示软腭中线部连续中断。三维容积数据分析显示硬腭前份完整,后份及软腭中线部连续中断。(3)Ⅲ°腭裂7例,正中矢状切面声像图显示腭中缝强回声线消失,经口裂硬腭斜冠状切面显示硬腭中线部连续中断,经口裂软腭斜冠状切面显示软腭中线部回声连续中断,口鼻腔相通,自口腔可显示鼻中隔下缘犁骨强回声。三维容积数据分析显示硬腭和软腭连续中断,自口腔可清晰显示鼻中隔下缘的犁骨强回声。产后及引产后围产儿检查证实产前超声误诊2例(0.06%,2/3 598),漏诊1例单纯腭裂(8.33%,1/12)。胎儿单纯腭裂发生率为0.33%(12/3 598)。12例单纯腭裂胎儿中11例合并其他部位畸形,合并畸形部位1~6个,以单纯腭裂合并中枢神经系统畸形(6/12)、小下颌(6/12)、泌尿系畸形(5/12)最多见。2例胎儿合并羊水过多,1例胎儿无羊水。结论系统产科超声检查将胎儿继发腭作为常规检测项目进行规范化检查,在成功获取继发腭显像的胎儿中可以检出单纯腭裂。产前诊断单纯腭裂有利于孕妇进行全面的产前咨询及遗传风险评估。 Objective To summarize the characteristics of prenatal ultrasonography in fetus with simple cleft palate and malformation, and to analyze the causes of cleft palate in prenatal ultrasound. Methods A total of 3 598 fetuses were examined by two-dimensional and three-dimensional ultrasonography. Nasal and lip coronal sections were used to observe the fetal labial and palatal regions through the maxillary cross-section, median sagittal section and oral fissure coronal section. Accompanied by deformity screening, and with postpartum or post-abortion check results for comparative analysis. Results In 3 598 cases, cleft palate was detected in 11 cases (0.31%, 11/3 598) in prenatal ultrasound. Fetal cleft palate ultrasonography showed: (1) Ⅰ ° cleft palate in 1 case, and median sagittal sonography Palate sutural echo strong echo disappeared, the upper and lower mucosa is still intact, the oval cracked hard palate oblique coronal section showed continuous discontinuity of the hard palate, soft palate incision through the soft palate incision coronal section showed complete succession, the palate can not be displayed. (2) Three cases of Ⅱ ° cleft palate showed that the strong echo line in the mid-sagittal palate became shorter and the soft palate disappeared in the second half and midline. Echo line, longer than the palatal midflex echo line, the cracked hard palatal oblique coronal section showed a strong echo of the hard palate front continuous line, the middle of the back of the strong echo continuous interruption, the soft palate incision through the crenary coronal section showed continuous discontinuation of the midline soft palate. Three-dimensional volumetric data analysis showed that the first part of the hard palate is intact, and the middle part of the soft palate is interrupted continuously. (3) 7 cases of Ⅲ ° cleft palate, the middle sagittal sonography showed that the strong echo of the palatal midline disappeared. The cleft palate obliquely coronal section showed continuous discontinuity of the midline of the cleft palate. The soft coronal midline echo Continuous interruption of oral and nasal interlinked, since the oral cavity can be displayed under the lower edge of the nasal septum strong echo. Three-dimensional volumetric data analysis showed continuous discontinuity of the hard palate and soft palate, and strong vocal hyperechogenicity of the volar bone at the inferior border of the nasal septum was clearly visible from the oral cavity. Prenatal and postnatal perinatal examinations confirmed 2 cases (0.06%, 2/3 598) of misdiagnosis of prenatal ultrasound and 1 case of cleft palate (8.33%, 1/12) misdiagnosed. The incidence of fetal cleft palate was 0.33% (12/3 598). Eleven patients with unilateral cleft palate had deformities in other sites combined with 1-6 deformities. The patients with simple cleft palate combined with central nervous system deformity (6/12), small mandible (6/12), urinary deformity (5/12) Most see. 2 cases of fetus with amniotic fluid too much, 1 case of fetus without amniotic fluid. Conclusions The systematic obstetric ultrasound examines the fetus secondary palate as a routine test item for normalization. Cleft palate can be detected in fetuses with successful secondary palatal imaging. Prenatal diagnosis of cleft palate is conducive to pregnant women to conduct a comprehensive prenatal counseling and genetic risk assessment.
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