Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester

Abstract

We describe a case concerning alobar holoprosencephaly and proboscis diagnosed at 20+3 weeks gestation during routine sonographic scanning. The internal neural and craniofacial malformations of the fetus were confirmed using magnetic resonance imaging (MRI). Amniocentesis demonstrated trisomy 13 of a male fetus.

Keywords:

• Alobar holoprosencephaly
• proboscis
• ultrasound
• magnetic resonance imaging

Acknowledgements

The authors thank Dr. M. M. Krouwels, Department of Radiology, for providing the MRI images.