Abstract：Objective: To investigate the clinical significance of antepartum ultrasound in holoprosencephaly(HPE) diagnosis. Methods: A total of 34 fetuses diagnosed as HPE from 2007 to 2013 in our hospital. Sonographic features and postpartum results were analysed retrospectively. Results: Among the 34 fetuses, 21 cases were diagnosed as alobar HPE, 5 cases as semilobar HPE, and 8 as lobar HPE. The characteristic ultrasound findings in alobar HPE were related to the single primitive ventricle, fused thalami, and absence of midline structures; semilobar HPE were related to the single primitive ventricle, partial fused thalami and partia1 absence of midline structures; and lobar HPE were related to the absence of septum pellucidum cavity, and fused anterior horn of lateral ventricle． There were 23 cases combined with other craniofacial malformations, 8 with cardiovascular malformations, 4 with kidney malformations, 1 with spina bifida, 6 with limbs abnormality, 3 with subcutaneous edema, 6 with single umbilical artery, 1 with umbilical cord cyst, 2 with absence of stomach, 5 with polyhydramnios and 2 with oligohydramnios. Ten karyotype analysis resulted in 3 Trisomy 13, 1 Triploid and 5 normal. Conclusions: Prenata1 ultrasound is a useful tool in diagnosing HPE with highly accuracy. It is necessary to undergo antepartum ultrasound for the pregnant women． The antepartum ultrasound is an effective method to screen HPE.
2014, Vol. 25 
