In Utero MR Imaging of Fetal Holoprosencephaly: A Structured Approach to Diagnosis and Classification

BACKGROUND AND PURPOSE: Holoprosencephaly is a rare developmental brain abnormality with a range of severity. We describe our experience in diagnosing holoprosencephaly in the fetus with in utero MR imaging. We hypothesized that including in utero MR imaging in the diagnostic pathway will improve the detection of holoprosencephaly compared with ultrasonography and allow better assessment of the severity.

MATERIALS AND METHODS: We report on holoprosencephaly identified from ultrasonography and/or a diagnosis of holoprosencephaly made with in utero MR imaging. We compare the diagnoses made with sonography and in utero MR imaging in each case and compare the 2 methods of assessing the severity of holoprosencephaly.

RESULTS: Thirty-five fetuses are reported, including 9 in which the diagnosis of holoprosencephaly was made on ultrasonography but not confirmed on in utero MR imaging. Of the 26 cases of holoprosencephaly diagnosed on in utero MR imaging, 12 were not recognized on ultrasonography.

CONCLUSIONS: Our results show that in utero MR imaging has a major role in diagnosing or refuting a diagnosis of fetal holoprosencephaly made on ultrasonography. In utero MR imaging also assists in grading the severity of fetal holoprosencephaly.