ObjectiveTo analyze the prenatal sonographic features of facial anomalies and evaluate the relationship between facial anomalies and increased nuchal translucency.MethodsPregnant women coming to Shenzhen Maternity and Child Healthcare Hospital afifliated to Nanfang Medical University between October 2008 and December 2012 for the 11th-13th+6 gestational week scanning were included in this study. Fetal facial region was evaluated by the technique of cross-sectional view of the fetal lateral ventricle with probe tilting. Comparative analysis was performed on autopsy and prenatal ultrasonograpgy. ResultsThe prenatal ultrasonic results of 10 518 fetus: 10 343 fetus (98.3%, 10 343/10 518) were conifrmed as facial normal with the technique of cross-sectional view of the fetal lateral ventricle with probe tilting at the ifrst trimester. Twenty-eight cases of facial malformation were conifrmed at the ifrst trimester (8 cases of cleft lip/plate, 14 cases of absence of nasal bone, 5 cases of holoprosencephaly facial feature and 1 cases of irregular facial cleft). Forty-nine cases of facial malformation were conifrmed by postnatal evaluation or autopsy (the incidence was 0.47%, 49/10 518 ). Twenty-one cases were misdiagnosed (11 cases of cleft lip/plate, 7 cases of ear deformity, 2 cases of micrognathia and 1 cases of irregular facial cleft). Ultrasonic soft marker: 34 cases were combined with abnormal soft marker (69.4%, 34/49), 22 cases of various kinds of facial malformation were combined with other structural deformity. Twenty-three cases were combined with increased nuchal translucency. Fourteen cases of absence of nasal bone were detected in the ifrst trimester, including twelve cases of increased nuchal translucency, six cases of structural deformity, two cases of chromosomal abnormalities (21-trisomy). Five cases of holoprosencephaly facial feature were detected in the first trimester, including three cases of increased nuchal translucency and structural deformity. Eight cases of cleft lip/plate were detected in the ifrst trimester, including ifve cases of increased nuchal translucency. One cases of irregular facial cleft were detected in the ifrst trimester, who was combined with structural deformity and increased nuchal translucency. Postpartum examination showed: there were 25 cases of simple facial anomaly, 22 cases were combined with structural deformity (9 cases of cardiac defect and 8 cases of holoprosencephaly), there were 2 cases of chromsomal abnormalities. The results showed that increased nuchal translucency had certain relationship with facial anomaly. The value of nuchal translucency of facial anomalies fetus was apparently higher than that of normal fetus and fetus with simply facial anomalies. There was no signiifcant difference between normal fetus and fetus with simply facial anomalies.ConclusionsFindings of holoprosencephaly and cardiac defects is a signiifcant clue for diagnosing facial anomalies. Fetuses with cleft palate/lip have an abnormal conifguration of the retronasal triangle. Cross-sectional view of the fetal lateral ventricle with probe tilting caudal slightly technique is an important method to screen fetal facial malformation in the ifrst trimester.%目的：总结早孕期（11~13+6周）胎儿颜面部异常超声声像图特征，分析颈项透明层（NT）增厚与颜面部异常相关性。方法对2008年10月至2012年12月在深圳市妇幼保健院产前检查的10518例胎儿行早孕期常规NT测量和经前囟侧脑室横切面尾侧偏斜法颜面部扫查，与活产儿产后检查或引产胎儿尸检结果对照，对早孕期颜面部异常胎儿的超声图像特征、NT增厚与颜面异常相关性进行总结和分析。结果10518例胎儿产前超声检查结果：运用经前囟侧脑室横切面尾侧偏斜法早孕期超声检出颜面部结构正常胎儿10343例（98.3%，10343/10518），颜面部异常28例（唇腭裂8例、鼻骨缺失14例，全前脑面容5例，不规则面裂1例）；引产或出生后检查及随访证实胎儿颜面部异常49例（发生率0.47%，49/10518），早孕期超声漏诊21例（唇腭裂11例，耳异常7例，小下颌2例，不规则面裂1例）；中孕期超声补充检出颜面部异常11例（唇腭裂10例，不规则面裂1例）；产前超声共检出颜面部异常39例（79.6%，39/49）；超声检查后失访126例。49例颜面部异常胎儿合并NT增厚和其他超声软指标异常34例（69.4%，34/49），其中合并NT增厚23例（46.9%，23/49），合并其他结构异常22例，合并染色体异常2例。颜面部异常与NT增厚相关性：本组超声检出颜面部异常合并其他结构异常的胎儿NT平均测值[（4.7±3.1）mm]＞单纯颜面部异常胎儿[（2.0±1.6）mm]＞正常胎儿[（1.8±0.4）mm]，表明颜面部异常与NT增厚有一定相关性。结论经前囟侧脑室横切面尾侧偏斜法是早孕期诊断胎儿颜面部异常准确、可靠的检查方法，早孕期发现胎儿全前脑、心脏异常、结构畸形伴NT增厚，应仔细检查有无颜面部异常，并于中孕期补充检查以减少漏诊。唇腭裂表现为鼻后三角形态改变，侧脑室横切面、正中矢状切面及双眼球冠状切面的改变则为全前脑面容的表现。
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