Rankine M, Hafner E, Schuchter K, Philipp K
Ludwig-Boltzmann-Institut für klinische Geburtshilfe und Gynäkologie, Gyn. Geb. Abt., Donauspital am SMZ-Ost, Wien, Osterreich.
Z Geburtshilfe Neonatol. 2000 Nov-Dec;204(6):236-8. doi: 10.1055/s-2000-9585.
Acrania is a rare congenital anomaly of unknown pathogenesis, in which the flat bones of the cranial vault are absent and the facial bones are normally present.
We present a case of a 4th gravida, who had already born 2 children with acrania and came for an ultrasound examination in the 12th week of gestation.
By transvaginal ultrasonography it was possible to diagnose fetal acrania already in the 12th week. By hysteroscopy at the same time we could see, that the brain was covered by a thin membrane, the facial bone and the shape of the cranium were normal.
By hysteroscopy it was possible to confirm the diagnosis and to detect additional malformations. This fetus showed a small omphalocele, hexadactylism on both sides and clubfeet on both sides.
By hysteroscopy in this early week of pregnancy we could demonstrate, that acrania is an independent anomaly and not the first stage of an anencephaly as reported by other authors. Hysteroscopy also offers the advantage of viewing the intact fetus before pregnancy termination.
无脑颅骨是一种发病机制不明的罕见先天性异常，其中颅顶扁骨缺失而面骨通常存在。
我们报告一例第4次妊娠孕妇，她已育有2名无脑颅骨患儿，此次在妊娠第12周前来进行超声检查。
经阴道超声检查在妊娠第12周即可诊断胎儿无脑颅骨。同时通过宫腔镜检查，我们可以看到大脑被一层薄膜覆盖，面骨和颅骨形态正常。
通过宫腔镜检查可以确诊并发现其他畸形。该胎儿显示有一个小脐膨出、双侧多指畸形和双侧马蹄内翻足。
在妊娠早期通过宫腔镜检查我们可以证明，无脑颅骨是一种独立的异常，并非如其他作者所报道的是无脑儿的第一阶段。宫腔镜检查还具有在终止妊娠前观察完整胎儿的优势。
