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Updated: Aug 30, 2025
State of the Art Cranial Ultrasound Imaging in Neonates
Published on: February 2, 2015
The diagnosis of the middle interhemispheric variant of holoprosencephaly with fetal MRI
I Garrido Márquez1, L Fernández Navarro1, E Moya Sánchez1
1Servicio de Radiodiagnóstico, Hospital Universitario Clínico San Cecilio, Granada, Spain.
Insights
Holoprosencephaly, a brain malformation, is diagnosed prenatally using imaging like ultrasound and fetal MRI. Understanding imaging findings is crucial for determining infant prognosis.
Area of Science:
- Neuroscience
- Medical Imaging
- Pediatric Radiology
Background:
- Congenital anomalies of the central nervous system are significant causes of infant morbidity and mortality.
- Holoprosencephaly results from incomplete separation of the developing brain's cerebral hemispheres.
- A variety of genetic syndromes and chromosomal anomalies are associated with these malformations.
Purpose of the Study:
- To highlight the importance of imaging in the prenatal diagnosis of holoprosencephaly.
- To emphasize the need for radiologists to be familiar with imaging findings for prognosis.
- To provide an overview of the diagnostic imaging pathway for holoprosencephaly.
Main Methods:
- Prenatal diagnosis typically begins with sonography.
- Fetal Magnetic Resonance Imaging (MRI) is used to refine sonographic findings.
- Review of imaging characteristics associated with holoprosencephaly.
Main Results:
- Sonography serves as the initial screening tool for holoprosencephaly.
- Fetal MRI offers detailed visualization for diagnostic confirmation and characterization.
- Specific imaging findings correlate with the severity and type of holoprosencephaly.
Conclusions:
- Prenatal imaging, including sonography and fetal MRI, is fundamental for diagnosing holoprosencephaly.
- Accurate interpretation of imaging findings is essential for predicting patient outcomes.
- Familiarity with the spectrum of holoprosencephaly imaging findings aids clinical management.
Abstract:
Congenital anomalies of the central nervous system comprise a wide spectrum of malformations associated with a wide variety of genetic syndromes and chromosomal anomalies, and they are among the principal causes of morbidity and mortality in infants. Among these anomalies, holoprosencephaly arises from the complete or partial failure of the brain to divide into the cerebral hemispheres. Imaging tests are fundamental for the prenatal diagnosis of holoprosencephaly; the diagnostic process usually starts with sonography and then the findings are refined with fetal MRI. Radiologists need to be familiar with the possible findings because the prognosis varies.
