Abstract
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. 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. 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. 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.
Highlights
BACKGROUND AND PURPOSEHoloprosencephaly is a rare developmental brain abnormality with a range of severity
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
Our results show that in utero MR imaging has a major role in diagnosing or refuting a diagnosis of fetal holoprosencephaly made on ultrasonography
Summary
Study Population This is a retrospective study of pregnant women referred to our Institution from fetomaternal units in England and Scotland, Interhemispheric fissure. MR Imaging In utero MR imaging was performed on whole-body 1.5T scanners (before 2008, Infinion; Philips Healthcare, Best, Netherlands; from hemispheric fusion varieties of HPE (MIHF) This variant was not described in the original works of DeMyer,[6,7] and our classification is based on the criteria suggested by Simon et al.[10]. The iuMR protocol Severity Score changed during the course of the study as new methods became avail- A more detailed secondary anatomic analysis was made by assessable; all subjects had ultrafast T2-weighted images of the ing the parts of the brain frequently affected by HPE, broadly fetal brain in the 3 orthogonal planes by using single-shot fast spin- following the approach of Simon et al[8] and Barkovich et al[9] in echo sequences (4- to 5-mm thickness). The imaging parameters for the “Discussion.” “Present” or “absent” assessments were made of the 3D sequence are described in detail elsewhere[2] but are summarized posterior interhemispheric fissure, posterior falx, anterior inter-
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