【摘要】 目的 分析神经管缺陷(NTDs)病理解剖诊断结果 ,并与出生缺陷临床报告结果 进行比较。方法 2011年3月—2013年11月从山西省5个县的分娩医院收集引产、死胎、死产及早期新生儿死亡的NTDs,由病理学医师统一进行尸体解剖并做出诊断。计算NTDs病例合并内脏畸形及其他缺陷的比例,并与临床报告记录的缺陷名称和种类进行比较。结果 共收集NTDs 95例,病理解剖结果 脊柱裂占46.3%,无脑占26.3%,脑膨出占4.2%,复合型NTDs占23.2%。单纯型NTDs病例占24.2%,NTDs合并其他缺陷占75.8%,其中合并内脏畸形占43.2%,合并其他体表畸形的占10.5%,同时合并内脏和其他体表畸形的占22.1%。NTDs合并的其他系统缺陷中(神经系统除外),最多的为肌肉骨骼系统,然后依次为呼吸系统、泌尿系统和五官。与病理解剖结果 对比,临床报告中体表微小畸形的漏诊率为87.0%,内脏畸形无报告。结论 神经管缺陷临床报告的准确性和完整性不足;病理解剖学检查对于提高神经管缺陷诊断的准确性和完整性,提高内脏畸形和微小体表畸形的检出率有很大帮助。更多还原

【Abstract】 Objective To characterize autopsy findings of neural tube defects(NTDs) and to compare the diagnosis with clinical reports based on birth defects surveillance system.Methods Cases of NTDs were collected from hospitals in 5 countries of Shanxi province from March 2011 to November 2013.Autoptic and pathological examinations of95 NTDs cases in stillbirths,aborted fetuses due to prenatal diagnosis of NTDs,or early neonatal deaths were performed by pathologists.The types and numbers of birth defects were compared between the pathoanatomic diagnosis and the clinical reports.Results The proportion of spina bifida,anencephaly,encephalocele,and NTDs involving two or more types of NTDs were 46.3%,26.3%,4.2%,and 23.2%,respectively.Isolated NTDs accounted for 24.2%,and NTDs associated with internal anomalies,other external anomalies,or both of internal and external anomalies accounted for 43.2%,10.5%,and 22.1%,respectively.Among all malformations associated with NTDs,musculoskeletal system ranked the first,followed by respiratory system,urinary system,and malformation of the eye,ear,face and neck.The proportion of under-report for minor external anomalies was as high as 87.0%and no internal anomalies were recorded in the clinical reports.Conclusion These findings suggest that pathoanatomic diagnosis provides more accurate and complete information for the diagnosis and classification of NTDs,especially for the detection of internal anomalies and minor external malformations.更多还原