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Prenatal diagnosis of congenital and acquired cerebellar disorders is possible by the use of ultrasound (US) and magnetic resonance imaging (MRI). Although numerous studies have been conducted in this field, diagnostic uncertainties are still common in daily clinical practice. This review outlines five possible pitfalls in the diagnosis of fetal cerebellar disorders: confusion between different entities describing vermian pathologies (Dandy–Walker variant, vermian hypoplasia and vermian agenesis); premature diagnosis of abnormal vermian formation; difficulties in the ultrasonographic differentiation between the cerebellar hemispheres and the vermis; late development of cerebellar hypoplasia/atrophy and differential diagnosis of unilateral cerebellar findings. Copyright © 2009 John Wiley & Sons, Ltd. 相似文献
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Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with AVSD to be diagnosed prenatally by fetal echocardiography. Copyright © 2007 John Wiley & Sons, Ltd. 相似文献
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Kayoko Saito 《黑龙江环境通报》2006,26(5):415-417
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. FCMD is recognized as an autosomal recessive genetic defect. Genetic counselling is recommended for parents at risk of having a child with FCMD. Given the high risk and overwhelming prospect of having another child with this incurable devastating condition leads many couples to consider prenatal diagnosis. In Japanese families, haplotype analysis using microsatellite markers is available. In non-Japanese families, DNA sequence analysis is available. Both disease-causing alleles of an affected family member must be identified before prenatal testing can be performed. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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A case in which macroglossia was the sole unusual prenatal sonographic finding in a fetus affected with trisomy 21 is presented. The differential diagnosis of fetal macroglossia is given, emphasizing its strong relationship to fetal aneuploidy, together with the principles for evaluation and management. 相似文献
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Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is—even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis—to carry out a directed diagnosis including a fetal karyotyping. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献