Wapner R J, Kurtz A B, Ross R D, Jackson L G
Obstet Gynecol. 1981 Mar;57(3):388-92.
The ability to make a prenatal diagnosis of Meckel syndrome (encephalocele, polydactyly, and polycystic kidney) by ultrasound is described. Three cases are detailed; in 2 of these the diagnosis was made at 18 and 36 weeks' gestation, respectively. In case 1 Meckel syndrome was identified by the presence of oligohydramnios, microcephaly, and enlarged cerebral ventricles. In case 2 oligohydramnios was associated with an encephalocele, bilateral renal enlargement, and a polydactyly. In case 3 the diagnosis was excluded in a fetus at risk. The usefulness of ultrasound in making this diagnosis is discussed for cases in which the amniotic fluid alpha-fetoprotein value is normal, inconclusive, or unobtainable.
本文描述了通过超声对梅克尔综合征(脑膨出、多指畸形和多囊肾)进行产前诊断的能力。详细介绍了三例病例;其中两例分别在妊娠18周和36周时做出诊断。病例1中,通过羊水过少、小头畸形和脑室扩大确诊为梅克尔综合征。病例2中,羊水过少伴有脑膨出、双侧肾脏增大和多指畸形。病例3中,排除了有患病风险胎儿的诊断。文中讨论了超声在羊水甲胎蛋白值正常、不确定或无法获得的情况下进行该诊断的实用性。