【摘要】 目的探讨早孕期前脑无裂面部畸形的超声图像特征及临床诊断价值。方法收集2013年1月～2019年1月湖北省妇幼保健院早孕期产前超声诊断和引产后病理证实的前脑无裂畸形22例,对其颜面部超声声像图与生后病理检查进行对比分析。结果 22例前脑无裂畸形中21例有面部畸形(95.45%),并有特定组合。产前超声表现:21例鼻骨发育不良,发生率95.45%(21/22),检出率100.00%(21/21),其中喙鼻发生率和检出率分别为40.91%(9/22)、100.00%(9/9),单鼻孔发生率和检出率分别为13.64%(3/22)、33.33%(1/3);眼部异常18例,发生率81.82%(18/22),检出率88.89%(16/18),包括眼距窄、独眼和无眼畸形,眼距窄检出率94.12%(16/17),独眼畸形发生率和检出率分别为31.82%(7/22)、57.14%(4/7),无眼畸形1例;中央型唇腭裂发生率40.91%(9/22),检出率为66.67%(6/9);耳畸形发生率45.45%(10/22),检出率40.00%(4/10)。13例进行了染色体核型分析,11例染色体异常,占84.62%(11/13),2例染色体正常。结论前脑无裂多伴发面部畸形且有特定组合,与染色体异常高度相关。早孕期产前超声对鼻骨发育不良、眼距窄、中央型唇腭裂诊断率高,结合颅脑超声表现可提高前脑无裂产前诊断率。更多还原

【Abstract】 Objective To investigate the ultrasonographic characteristics and diagnostic value of antenatal facial deformity of holoprosencephaly in the first trimester.Methods From January 2013 to January 2019 in Hubei Province Maternal and Child Health Hospital,22 cases of holoprosencephaly were diagnosed by antenatal ultrasound and confirmed pathologically.Results Of the 22 cases,21 had facial deformity(95.45%)and specific combinations.Prenatal ultrasonography showed that the incidence and detection rate of nasal bone dysplasia was 95.45%(21/22)and 100.00%(21/21),respectively.The incidence and detection rate of beak nose was 40.91%(9/22)and 100.00%(9/9),respectively.The incidence and detection rate of single nostril was 13.64%(3/22)and 33.33%(1/3),respectively.The incidence and detection rate of fetal eye abnormalities was 81.82%(18/22)and 88.89%(16/18),respectively.The detection rate of ocular hypotelorism was 94.12%(16/17).The incidence and detection rate of cyclopia was 31.82%(7/22)and 57.14%(4/7),respectively.The incidence and detection rate of central cleft lip and palate was 40.91%(9/22)and 66.67%(6/9),respectively.The incidence and detection rate of ear deformity was 45.45%(10/22)and 40.00%(4/10),respectively.The karyotype analysis on 13 cases revealed that there were 11 cases of chromosomal abnormalities and 2 cases of normal chromosome.Conclusion There is a high correlation between antenatal facial deformity and chromosome abnormality.Antenatal ultrasound in the first trimester has high diagnostic accuracy of nasal dysplasia,ocular hypotelorism and central cleft lip and palate.The diagnostic accuracy of antenatal diagnosis can be improved by combining with craniocerebral manifestations.更多还原