Tongsong T, Wanapirak C, Sirichotiyakul S, Siriangkul S
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.
J Med Assoc Thai. 1998 Mar;81(3):208-13.
The purpose of this series was to describe the sonographic features of fetal holoprosencephaly prenatally. The study was undertaken at Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. A total of 12 fetuses with 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. Eight of them were correctly diagnosed sonographically in the first two trimesters. Extrafacial anomalies were also identified in half of the fetuses and all of them had facial abnormalities. Twenty-five per cent (3 cases) had polyhydramnios and only one case had oligohydramnios. Chromosome study revealed that 70 per cent had normal chromosomes, 30 per cent were aneuploidy, trisomy 13; 2 cases and trisomy 18; 1 case. In conclusion, this series indicates that ultrasound has a high predictive value in the diagnosis of holoprosencephaly. The most valuable clue to the diagnosis is the demonstration of the single ventricle. Additionally, demonstration of facial abnormalities may add confidence to the diagnosis. Conversely, should any of these facial features be serendipitously encountered, a careful examination of the intracranial contents is recommended.
本系列研究的目的是描述产前胎儿前脑无裂畸形的超声特征。该研究在清迈大学玛哈拉吉那空清迈医院进行。共有12例产前诊断为前脑无裂畸形的胎儿接受了超声评估及随访。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。其中8例在前两个孕期通过超声被正确诊断。半数胎儿还发现了面部以外的异常，且所有胎儿均有面部畸形。25%（3例）有羊水过多，仅1例有羊水过少。染色体研究显示，70%的胎儿染色体正常，30%为非整倍体，13三体2例，18三体1例。总之，本系列研究表明超声在前脑无裂畸形的诊断中具有较高的预测价值。诊断最有价值的线索是单心室的显示。此外，面部异常的显示可能会增加诊断的可信度。相反，如果偶然发现任何这些面部特征，建议仔细检查颅内结构。
