二维结合三维超声早孕期筛查及诊断胎儿腭裂的初步研究

Preliminary study on screening and diagnosis of fetal cleft palate by two-dimensional combined with three-dimensional ultrasound in early pregnancy

目的探讨早孕期超声筛查及诊断胎儿腭裂的可行性,分析总结二维及三维超声对正常胎儿和腭裂胎儿腭的成像技术和图像特征。方法选取2016年1月至2020年6月在中国科学院大学深圳医院(光明)接受孕早期颈项透明层(nuchal translucency,NT)检查的胎儿10519例,将胎儿NT测量标准切面上的腭线作为筛查标记,常规进行观察。对腭线异常胎儿,增加二维超声冠状面的鼻后三角和轴平面的上颌牙槽突弓作为诊断切面,并采集三维容积数据以及面部三维多模式成像进行离线分析,确定或排除胎儿严重腭裂畸形。对纳入本研究的所有病例,在早孕期引产后或中孕期进行结构畸形筛查以及产后(或引产后)评估。结果在10519例胎儿中,10204例(97.01%)成功获取标准NT平面并观察到腭线,其中腭线正常10169例。35例腭线异常胎儿中13例通过增加二维超声切面和三维容积离线分析确诊为唇腭裂,并经引产证实:包括单侧唇腭裂7例,双侧唇腭裂3例,正中唇腭裂2例,不规则唇腭裂1例。无假阳性结果报告。22例经增加二维超声切面和三维容积离线分析后排除唇腭裂。全部胎儿均经中孕筛查和(或)生后追踪证实。漏诊单纯继发腭裂1例。结论腭线是早孕期胎儿腭裂的良好筛查指标。对腭线异常胎儿,增加鼻后三角和上颌牙槽突弓轴平面,并采集三维容积数据进行离线分析,可确定或排除有无严重腭裂畸形。本研究对胎儿严重类型唇腭裂畸形的早期筛查和诊断、产前遗传咨询以及出生缺陷防控有重大意义。

Objective To explore the feasibility of ultrasound screening and diagnosis of fetal cleft palate in early pregnancy,analyze and summarize the imaging technology and image characteristics of two-dimensional and three-dimensional ultrasound in normal fetus and cleft palate fetus.Methods A total of 10519 pregnant women participated in the early pregnancy were included from January 2016 to June 2020 in Shenzhen Hospital,University of Chinese Academy of Sciences.The palatal line on the standard section of fetal nuchal translucency(NT)measurement was used as a screening marker for routine observation.For fetuses with abnormal palatine line,posterior nasal triangle of coronal plane and axial plane of maxillary alveolar arch of two-dimensional ultrasound were added as the diagnostic sections,and three-dimensional volume data of fetal face were collected,and three dimensional multimodal imaging technology was used to analyze the volume data off-line to determine or exclude fetal severe cleft palate.All fetuses were followed up during the second trimester for deformity scanning and post natal(or induced labor)assessment.Results Of the 10519 fetuses,the standard NT plane was obtained and the palatal line was observed in 10204 cases(97.01%),with normal palatal line in 10169 cases.In 35 suspected cases,13 cases were confirmed cleft lip and palate by two and three dimensions ultrasound,and were confirmed by induced labor.There were 7 cases in unilateral side,3 cases in bilateral,2 cases in median cleft lip and palate,1 cases in irregular cleft lip and palate,and no false positive results were reported.Twenty-two suspicious cases were excluded by increasing the two-dimensional sectional and three-dimensional volumetric off-line analysis,and screening after the second trimester and after birth.There was 1 case of missed diagnosis of simple cleft palate.Conclusions Palatal line is a good screening marker for fetal cleft palate in early pregnancy.For fetuses with abnormal palatine line,the adding of posterior nasal triangle and the axial plane of maxillary alveolar arch,and combining three-dimensional volume data for off-line analysis can determine or exclude severe cleft palate.This study is of great significance for early screening and diagnosis of severe fetal cleft palate,prenatal genetic counseling and prevention birth defect.