Martins Santana Eduardo Félix, Araujo Júnior Edward, Tonni Gabriele, Costa Fabricio Da Silva, Meagher Simon
Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo-SP, Brazil ; Department of Perinatology, Albert Einstein Hospital, São Paulo-SP, Brazil.
Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo-SP, Brazil.
J Ultrason. 2018;18(74):240-246. doi: 10.15557/JoU.2018.0035.
The study presents a pictorial essay of acrania-exencephaly-anencephaly sequence using two-(2D) and three-dimensional (3D) ultrasonography, documenting the different phenotypic characterization of this rare disease. Normal and abnormal fetuses were evaluated during the first trimester scan. The International Society of Ultrasound in Obstetrics and Gynecology practice guidelines were adopted to standardize first trimester anatomical ultrasound screening. The guidelines outline the importance of systematic fetal head and brain examination including the formation of cranial bones, choroid-plexus and ventricles. Acrania-exencephaly-anencephaly sequence and/or other neural tube defects, such as meningoencephalocele, may be identified during a routine 11-14 week scan. Early first trimester detection of acrania-exencephaly-anencephaly sequence with the characterization of different related phenotypes, 2D and 3D ultrasound imaging as well as differential diagnosis are also presented in this pictorial essay. The main diagnostic ultrasound features of the disease may be characterized by findings of acrania with increased amniotic fluid echogenicity; "Mickey-Mouse" bi-lobular face, cystic, elongated, irregular and overhanging head morphology. Lightening techniques have also been added to 3D ultrasound to enhance anatomical details. Moreover, discordant amniotic fluid echotexture in the setting of twin pregnancies may be the first sign of acrania-exencephaly-anencephaly sequence. Extracranial malformations, aneuploidy and genetic syndromes associated with acrania-exencephaly-anencephaly sequence are also reported and described. First trimester neuroscan by an expert sonographer with appropriate training together with the application of standardized protocol are essential for a high detection rate of this rare type of neural tube defect malformation during a scan performed at 11 and 13 weeks and 6 days.
本研究使用二维（2D）和三维（3D）超声呈现了无脑儿-露脑畸形-无脑畸形序列的图文报告，记录了这种罕见疾病的不同表型特征。在孕早期扫描期间对正常和异常胎儿进行了评估。采用国际妇产科超声学会的实践指南来规范孕早期解剖超声筛查。这些指南概述了系统胎儿头部和脑部检查的重要性，包括颅骨、脉络丛和脑室的形成。无脑儿-露脑畸形-无脑畸形序列和/或其他神经管缺陷，如脑膜脑膨出，可能在常规的11至14周扫描中被识别。本图文报告还介绍了孕早期对无脑儿-露脑畸形-无脑畸形序列的早期检测，以及不同相关表型的特征、2D和3D超声成像及鉴别诊断。该疾病的主要诊断超声特征可能表现为无脑儿伴羊水回声增强；“米老鼠”双叶面部、囊性、细长、不规则和悬垂的头部形态。3D超声还增加了提亮技术以增强解剖细节。此外，双胎妊娠时羊水回声质地不一致可能是无脑儿-露脑畸形-无脑畸形序列的首个迹象。还报告并描述了与无脑儿-露脑畸形-无脑畸形序列相关的颅外畸形、非整倍体和遗传综合征。由经过适当培训的专家超声医师在孕11周和13周6天时进行的孕早期神经扫描，以及标准化方案的应用，对于在扫描中高检出率地发现这种罕见类型的神经管缺陷畸形至关重要。
