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| Diagnostic value of prenatal ultrasound for fetal holoprosencephaly |
DENG Feng-lian, GUO Yan-li, DUAN Ling-min, LI Rui, XUE Ya-fang, FENG Yu-jie,
LIU Jian-jun, ZHONG Hua, WANG Yan |
| Department of Ultrasound, South West Hospital, Third Military Medical University, Chongqing 400038, China |
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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.
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Received: 04 November 2013
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2014, Vol. 25 
