Holzgreve W, Miny P, Gullotta F
Geburtshilfe Frauenheilkd. 1985 Nov;45(11):813-4. doi: 10.1055/s-2008-1036654.
Data on the sonographic diagnosis of holoprosencephaly in the second trimester are presented. Polyhydramnions was detected during outside ultrasound screening, and the lacking midline echo in association with hypotelorism and central face clefting allowed early diagnosis. The autopsy of the fetus confirmed the prenatal diagnosis, the parents subsequently had genetic counseling. The recurrence risk of holoprosencephaly depends on the specific etiology. Special ultrasound examination should be offered in subsequent pregnancies.
本文呈现了孕中期超声诊断全前脑畸形的数据。在外部超声筛查期间检测到羊水过多,缺乏中线回声以及伴有眼距过窄和面部中央裂,从而得以早期诊断。胎儿尸检证实了产前诊断,随后父母接受了遗传咨询。全前脑畸形的复发风险取决于具体病因。在后续妊娠中应进行特殊超声检查。