To determine the image feature and clinical value of first-trimester ultrasonographic diagnosis of fetal holoprosencephaly.

A total 35 580 fetuses at gestational age between 11^{+ 6} and 13^{+ 6} weeks were scanned in our hospital by color Doppler ultrasound according to the prenatal ultrasound from Jan 2009 to Jan 2017. Fetal craniocerebral and faceprestige were checked carefully. Cases of fetal holoprosencephaly diagnosed in first-trimester were followed sonographically, and the clinical outcomes were recorded.

Totally five cases of fetal holoprosencephaly were detected. Four fetuses with other associated malformations were detected by first trimester ultrasound, including one case with beak nosetril, eyes too close, one case with beak nosetril, fetal cleft lip and palate, fetal hydrops, congenital heart disease and mid gut herniation, one case with thickened nucha. One translucency (NT), one case with mandibular micrognathia, one case with trisomy 13 syndrome, the other four cases were not checked.Terminal of pregnancy was performed in four cases during early pregnancy, one case was loss to follow-up. Autopsy was refused in these cases. Fetal appearance revealed one case of cleft lip, single nostril, mandibular micrognathia, one case of hydrops, polyphalangia, microtia, one case of beak nosetril, fetal cleft lip and palate, mid gut herniation, hydrops, one case of beak nosetril, eyes too close.

Fetal holoprosencephaly can be effectively detected and diagnosed during early pregnancy with standardized prenatal ultrasound.