Wong H S, Lam Y H, Tang M H, Cheung L W, Ng L K, Yan K W
Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Hong Kong, China.
Ultrasound Obstet Gynecol. 1999 May;13(5):356-9. doi: 10.1046/j.1469-0705.1999.13050356.x.
We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.
我们报告了3例妊娠10周和13周时经腹及经阴道超声检查诊断为胎儿前脑无裂畸形的病例。诊断基于两条超声标准：其一，颅内发现单一脑室，有大脑皮质，无可见中线结构，但丘脑和纹状体融合；其二，面部异常，包括眼距过窄。其中1例在流产前行胚胎镜检查证实了超声检查结果，另外2例在流产后经病理检查证实。对这3例胎儿进行的染色体研究显示为18三体、三倍体以及嵌合型18p缺失和重复。
