Ultrasound prenatal diagnosis of holoprosencephaly: a case report

Introduction

The holoprosencephaly (HPE) is a severe and complex congenital malformation of the brain associated with evocative facial anomalies. The prevalence is estimated at 1:10,000 live births and stillbirths and 1/250 design products. Early antenatal diagnosis of this malformation is essential for taking proper and early obstetrical management.

Objective

The aim of this case report is to illustrate the importance of ultrasonic examination in the prenatal diagnosis of holoprosencephaly.

Methods

HN is a 32 years old patient without particular antecedent, mother of a child in apparent good health. she was seen at 22 WA for systematic sonography examination. The morphological ultrasound discovered with intracranial signs: a large monoventricular cavity, lack of midline structures and fusion of thalamic masses suggestive alobar holoprosencéphlie. Glycemic figures in this patient were normal, as well as acquired immunity to toxoplasmosis and rubella.
Amniocentesis was performed at 23 weeks of gestation and an abnormal karyotype was diagnosed. The fetus had a trisomy of the 21th chromosom. The parents decided to terminate the pregnancy on the basis of the ultrasound abnormalities. Eight hours after inducing labor with vaginally administered misoprostol. Autopsy demonstrated further the alobar HPE

Conclusion

The HPE is a rare and frequently associated with facial anomalies, congenital brain malformation. Prognosis is often poor especially for alobar form. The ultrasound diagnosis is now possible since 14-16 weeks of amenorrhea.

Keywords

Prenatal diagnosis; holoprosencephaly