The wide spectrum of ultrasound diagnosis of holoprosencephaly.

Abstract:

AIM:Holoprosencephaly (HPE) is the most common brain malformation. A wide spectrum of anatomical variants are characterized by a lack of midline separation of the cerebral hemispheres. The aim of this study was to assess the ultrasound diagnostic criteria for HPE. MATERIAL AND METHOD:A database of 175 fetuses with central nervous system anomalies identified by ultrasound was collected retrospectively from 2006 to 2016 in this multicenter, retrospective, observational study. Among them 18 cases (10.2%) with HPE were identified. RESULTS:The prevalence of HPE was 2.5:10.000 with the sex distributionmale:female of 1:1.6. Six cases were alobar subtype, 3 were semilobar, 7 were lobar and 2 were middle interhemispheric variant. In the second trimester, we consider that the abnormal fusion of the lateral ventricles and the absence of the cavum septum pellucidum are the most important landmarks for HPE. Facial abnormalities varied considerably. CONCLUSION:This study illustrates the heterogeneity of HPE with different cerebral and facial appearances.

journal_name

Med Ultrason

journal_title

Medical ultrasonography

authors

Ionescu CA,Vladareanu S,Tudorache S,Ples L,Herghelegiu C,Neacsu A,Navolan D,Dragan I,Oprescu DN

doi

10.11152/mu-1614

subject

Has Abstract

pub_date

2019-05-02 00:00:00

pages

163-169

issue

2

eissn

1844-4172

issn

2066-8643

journal_volume

21

pub_type

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