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首页> 外文期刊>Pediatric and developmental pathology: the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society >Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis
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Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis

机译：在产前超声诊断后妊娠结束后完整胎儿的中枢神经系统异常的尸检结果

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Objectives Central nervous system (CNS) anomalies are the second most frequent category of congenital anomalies after congenital heart defects (CHDs). In this study, the aim was to investigate the distribution of different CNS anomalies with associated anomalies and karyotype in a fetal autopsy population of terminated pregnancies over a 30-year period and to correlate the ultrasonographic diagnoses of CNS anomalies with autopsy findings. Materials and Methods This study includes 420 intact fetuses with CNS anomalies terminated at gestational ages 11(+ 0) to 33(+ 6) over a 30-year period from 1985 to 2014. An ultrasound (US) examination was performed at the National Centre for Fetal Medicine, St. Olavs Hospital, Trondheim. The autopsies were performed at the Department of Pathology at the same hospital or a collaborating hospital. The anomalies were subcategorized according to the classification by the World Health Organization. Results Neural tube defects such as anencephaly (22.4%, 107/477) and spina bifida (22.2%, 106/477) constituted the most common CNS anomalies, followed by congenital hydrocephalus (17.8%, 85/477). In total, the karyotype was abnormal in 21.0% of all termination of pregnancies (TOPs), with trisomy 18 as the most frequent abnormal karyotype. CHDs, skeletal anomalies, and urinary anomalies were the most common associated organ anomalies. Throughout the study period, there was full agreement between US and postmortem findings of CNS anomalies in 96.9% (407/420) of TOPs. Conclusion In this study of autopsy findings of CNS anomalies in intact fetuses terminated after prenatal US diagnosis, neural tube defects were most common. About half of the fetuses had isolated serious CNS anomalies, while the other half were CNS anomalies associated with structural and/or chromosomal anomalies. The prenatal US diagnoses were in good concordance with autopsy findings. In particular, due to challenges of diagnoses made early in pregnancy, it is necessary to continue the validation practice.
机译：目标中枢神经系统（CNS）异常是先天性心脏缺损（CHDS）后的第二个最常见的先天性异常类别。在这项研究中，目的是在30年期间，研究不同的CNS异常在胎儿尸检患者终止怀孕中的相关异常和核型分布，并将CNS异常与尸检调查结果相关联。本研究的材料和方法包括420个完整的胎儿，其在1985年至2014年的30年期间在11年（+ 0）至33（+ 6）中终止的CNS异常。超声（美国）考试在国家中心进行对于胎儿医学，圣奥拉夫斯医院，特隆赫姆。尸检是在同一医院或合作医院的病理部进行的。异常根据世界卫生组织的分类进行分类。结果神经管缺陷如血症症（22.4％，107/477）和脊柱段（22.2％，106/477）构成最常见的CNS异常，其次是先天性脑积水（17.8％，85/477）。总共有21.0％的孕型核型，妊娠（上面）的21.0％，Trisomy 18是最常见的核型。 CHD，骨骼异常和尿液异常是最常见的相关器官异常。在整个研究期间，在96.9％（407/420）上的CNS异常的美国和后期成果之间全面协议。结论在本研究尸检中的CNS异常在产前胎儿终止后的CNS异常的研究中，神经管缺陷最常见。大约一半的胎儿已经孤立严重的CNS异常，而另一半是与结构和/或染色体异常相关的CNS异常。产前美国诊断与尸检调查结果良好。特别是，由于妊娠早期诊断挑战，有必要继续验证实践。

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