Apert综合征产前超声征象及漏误诊分析  

Analysis of prenatal ultrasound signs and prevention strategies for missed diagnosis and misdiagnosis in Apert syndrome

作　　者：林慧娟[1] 王丽敏[1] 郑丽 杨朝湘[2] 尚宁[1] 肖珍[1] 徐芳芳 Lin Huijuan;Wang Limin;Zheng Li;Yang Chaoxiang;Shang Ning;Xiao Zhen;Xu Fangfang(Department of Ultrasound,Guangdong Women and Children Hospital,Guangzhou 511442,China;Department of Radiology,Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院超声科,广州511442 [2]广东省妇幼保健院放射科,广州511442

出　　处：《中华超声影像学杂志》2024年第9期784-790,共7页Chinese Journal of Ultrasonography

摘　　要：目的:总结Apert综合征产前超声诊断关键特征,分析漏误诊原因,并提出相应的防范策略。方法:回顾性分析2014年8月至2022年5月期间在广东省妇幼保健院进行产前超声检查,并最终经引产或出生后临床证实为Apert综合征的15例胎儿(包括14例由外院转诊病例)的病历资料及产前超声图像。通过对比分析,特别是针对转诊病例的初次诊断与最终诊断,总结Apert综合征的超声诊断要点及漏诊、误诊的原因。结果:①诊断准确率:15例胎儿中,产前超声正确诊断11例(73.3%),漏误诊4例(26.7%);对于14例转诊病例,其在外院的初次诊断中,仅2例被正确诊断(14.3%),漏误诊12例(85.7%)。②超声征象检出率:在15例Apert综合征胎儿中,"三叶草"形头颅检出率为13.3%(2/15),冠状缝早闭为66.7%(10/15),"脑阴影"征及枕部平坦均为93.3%(14/15),前额突出、眼距增宽及双手并指均为100%(15/15),双足并趾为73.3%(11/15)。③漏诊及误诊分析:本院4例漏误诊病例中,均未能识别冠状缝早闭、"脑阴影"征、枕部平坦和眼距增宽,其中3例同时遗漏前额突出、双手并指和双足并趾,另有1例将双手并指误诊为双手部分掌骨、指骨缺失。结论:胎儿Apert综合征的产前超声诊断中,双手对称性并指是极其重要的诊断线索;"三叶草"形头颅并非常见;冠状缝早闭作为最直接的诊断征象,其高检出率提示其在诊断中的重要性。同时,前额突出、枕部平坦、"脑阴影"征及眼距增宽等特征性超声表现有助于提高Apert综合征产前超声诊断的精确性并有效降低漏诊与误诊。ObjectiveTo summarize the key prenatal ultrasound diagnosis features of Apert syndrome,analyze the causes of missed diagnosis and misdiagnosis,and propose corresponding preventive strategies.MethodsA retrospective analysis was made on the medical records and prenatal ultrasound images of 15 fetuses(including 14 cases referred from other hospitals)who underwent prenatal ultrasound examination in Guangdong Women and Children Hospital from August 2014 to May 2022 and were eventually clinically confirmed as Apert syndrome by induction or after birth.By conducting a comparative analysis,particularly focusing on the initial and final diagnoses of referral cases,the key ultrasound diagnostic points of Apert syndrome and the causes for missed and misdiagnosis were summarized.Results①Diagnostic accuracy:Among the 15 fetuses,11 cases(73.3%)were correctly diagnosed by prenatal ultrasound and 4 cases(26.7%)were missed diagnosis and misdiagnosis.For the 14 referral cases,only 2 cases(14.3%)were correctly identified in the initial diagnosis at the referring hospital(14.3%),and 12 cases(85.7%)were missed missed diagnosis and misdiagnosis.②Detection rate of ultrasound signs:In the 15 fetuses with Apert syndrome,the detection rate of"cloverleaf"skull was 13.3%(2/15),premature coronal suture was 66.7%(10/15),the"brain shadowing sign"and flat occiput were both 93.3%(14/15),prominent forehead,hypertelorism and bilateral syndactyly of hands were all 100%(15/15),and bilateral syndactyly of feet was 73.3%(11/15).③Analysis of missed diagnosis and misdiagnosis:Among the 4 cases of missed diagnosis and misdiagnosis in our hospital,premature closure of coronal suture,"brain shadowing sign",flat occiput and hypertelorism were all not recognized.Among these,3 cases also missed the prominent forehead,bilateral syndactyly of hands and feet.Additionally,1 case of bilateral syndactyly of hands was misdiagnosed as partial absence of metacarpals and phalangess.ConclusionsIn the prenatal ultrasound diagnosis of fetal Apert syndrome,the symmet

关 键 词：超声检查 产前 APERT综合征 漏误诊 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]