Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation

We describe prenatal diagnosis in a male fetus at 21 weeks of gestation with atelosteogenesis type I (AO I). Fetal ultrasonography (US) revealed absent or deficient ossification of the posterior neural arches of the thoracic spine, humeri, radii, ulnae, fibulae, and short tubular bones other than the distal phalanges, in addition to extremely short, thick femora. Fetal magnetic resonance imaging (MRI) using an ultrafast imaging sequence depicted dysmorphic features, pulmonary hypoplasia, and large cisterna magna. Postmortem radiographs warranted a diagnosis of AO I. Autopsy corroborated not only pulmonary hypoplasia but also laryngeal stenosis. The chondro-osseous histological findings were consistent with those of AO I. Meticulous evaluation using fetal US and MRI permits a definitive prenatal diagnosis of AO I to be made. Copyright © 2002 John Wiley & Sons, Ltd.     

基于磁共振成像的头部三维测量研究

人体头部尺寸是进行头部装备设计的依据,本文基于磁共振成像技术获取二维头部图像,从原始图像提取边界三维坐标数据,利用傅立叶级数对头部坐标数据进行数学描述,并实现头型的三维重建和尺寸测量。     

Abnormalities of the foetal cerebral cortex

Prenatal ultrasound has concentrated on readily visible cerebral structures including head size, shape, ventricles, CSP (cavum septi pellucidi), cerebellar size/vermian presence and cisterna magna. However, apart from these easily visible structures it is important to evaluate the brain itself. Patients who initially appear to have mild isolated findings such as borderline ventriculomegaly in fact can have many more subtle findings that significantly alter prognosis and management that can be detected on detailed examination of the brain. There has been rapid evolution in imaging these foetuses, especially with neurosonography and MRI, and a revolution in understanding the underlying genetic and biochemical mechanisms. There is increasing emphasis to detect cortical abnormalities as early as possible. This article reviews development of the cerebral cortex, the classification, aetiologies and clinical manifestations of cortical disorders, normal and abnormal appearances at ultrasound and MRI, and approaches to investigation. Copyright © 2009 John Wiley & Sons, Ltd.     

Klippel–Trenaunay–Weber (KTW) syndrome: the use of in utero magnetic resonance imaging (MRI) in a prospective diagnosis

The diagnosis of the Klippel–Trenaunay–Weber (KTW) syndrome is rarely made antenatally. We report the use of both ultrasound and in utero magnetic resonance imaging (MRI) in the prenatal diagnosis of this syndrome. This is the first report of the use of prenatal MRI in the diagnosis of this condition. There was concordance in the findings of both modalities, with limb hypertrophy, and multiple haemangiomata – both subcutaneous and internally – demonstrated with ultrasound and MRI. The patient elected to terminate the pregnancy because of associated oligohydramnios and a small fetal chest noted at 20 weeks. The postmortem examination confirmed the antenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.