Pfeiffer K H, Gieren S, Böhm R
Geburtshilfe Frauenheilkd. 1982 Apr;42(4):301-4. doi: 10.1055/s-2008-1036764.
A case is reported of an antenatal completely sonographic diagnosis of a case of Meckel-Syndrome. During the second ultra-sound screening at 33 weeks gestation the suspicion of hydrocephalus was diagnosed. An extended ultra-sound diagnosis at 34 gestation showed the following: 1. internal hydrocephalus 2. encephalocele or meningomyelocele 3. bilateral polycystic kidneys 4. suspicious of aplasia of the diaphragm on the left 5. suspicious of hepatic cysts. The infant died a few hours after delivery. The autopsy report corroborated the essential features of the ultra-sound diagnosis. In summary these were interpreted as meckel-syndrome. This case shows that a complete antenatal diagnosis of meckel-syndrome by ultra-sound only is possible. The case also shows that diagnosis prior to 24 weeks gestation is desirable in order to carry out the necessary treatment.
报告了一例通过产前超声完全诊断出梅克尔综合征的病例。在妊娠33周进行第二次超声筛查时,诊断出疑似脑积水。妊娠34周时进行的进一步超声诊断显示如下情况:1. 内部脑积水;2. 脑膨出或脊髓脊膜膨出;3. 双侧多囊肾;4. 怀疑左侧膈肌发育不全;5. 怀疑肝囊肿。婴儿在出生后数小时死亡。尸检报告证实了超声诊断的主要特征。总的来说,这些被解释为梅克尔综合征。该病例表明仅通过超声进行梅克尔综合征的产前完全诊断是可能的。该病例还表明,为了进行必要的治疗,在妊娠24周之前进行诊断是可取的。