Tongsong T, Wanapirak C, Chanprapaph P, Siriangkul S
Department of Obstetrics and Gynecology, Chiang Mai University, Thailand.
Int J Gynaecol Obstet. 1999 Aug;66(2):165-9. doi: 10.1016/s0020-7292(99)00059-4.
To describe our experience with sonographic diagnosis of fetal holoprosencephaly in first trimester.
A total of three fetuses with early prenatal diagnosis of holoprosencephaly were sonographically evaluated and followed up.
The study revealed that all showed monoventricular cavity, fused thalami, no falx and cavum septum pellucidum. All of them were correctly diagnosed sonographically in the first trimester. Extracranial anomalies had also been identified in all three fetuses and all of them had facial abnormalities. Cytogenetic studies were successfully carried out in only one case. No polyhydramnios was demonstrated in all cases.
This small series indicates that holoprosencephaly can be diagnosed in the first trimester. The most valuable clue to the diagnosis is the demonstration of the single ventricle.
描述我们在孕早期超声诊断胎儿前脑无裂畸形方面的经验。
对3例产前早期诊断为前脑无裂畸形的胎儿进行超声评估及随访。
研究显示，所有胎儿均表现为单心室腔、丘脑融合、无大脑镰及透明隔腔。所有胎儿均在孕早期通过超声正确诊断。所有3例胎儿均发现有颅外异常，且均有面部畸形。仅1例成功进行了细胞遗传学研究。所有病例均未显示羊水过多。
这一小系列病例表明，前脑无裂畸形可在孕早期诊断。诊断最有价值的线索是单心室的显示。
