Boog G, Le Vaillant C, Winer N, David A, Quere M P, Nomballais M F
Department of Obstetrics and Fetal Medicine, Hôpital Mère et Enfant, Centre Hospitalier Universitaire de Nantes, Hôtel-Dieu, Nantes, France.
Fetal Diagn Ther. 1999 Jan-Feb;14(1):20-3. doi: 10.1159/000020881.
A diagnosis of Apert syndrome, suspected at 24 weeks' gestation after conventional sonography showing turribrachycephaly and syndactyly of hands and feet, was confirmed at 26 weeks' gestation by tridimensional sonography and magnetic resonance imaging. This is only the second prenatal diagnosis reported at mid-trimester, excluding cases published from affected mothers or in connection with a context of recurrence. Additional findings have been collected from tridimensional sonography (mid-facial hypoplasia, downslanting palpebral fissures) and from magnetic resonance imaging (verticalization of the clivus and flattened angle of the cranial base).
孕24周经传统超声检查显示短头畸形及手足并指后怀疑为Apert综合征,孕26周经三维超声和磁共振成像确诊。这是仅有的第二例孕中期产前诊断报告,不包括来自患病母亲或与复发情况相关的已发表病例。已从三维超声(面中部发育不全、睑裂向下倾斜)和磁共振成像(斜坡垂直化及颅底角变平)中收集到其他发现。