Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging

Abstract

Corpus callosum agenesis (CCA) was evaluated by ultrasound examination and magnetic resonance imaging (MRI) in 14 cases. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in only four cases. MRI was able to diagnose complete CCA in 13 cases and showed absence of the posterior portion of the corpus callosum in one case. Additional neurological abnormalities including heterotopia, gyration anomaly, asymmetry of the cerebral hemispheres, and Dandy‐Walker variant were documented in five cases, as well as an ocular anomaly which was present in one case, by MRI examination. Prenatal counselling for fetal agenesis of the corpus callosum is difficult as the prognosis is uncertain. The association with other cerebral abnormalities increases the likelihood of a poor outcome and ultrasonographic assessment of the fetal brain is limited. We found MRI to be a safe and useful additional procedure to complement ultrasonographic diagnosis or suspicion of CCA. © 1998 John Wiley & Sons, Ltd.

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

“…If we exclude sulcation delay, then 69% had additional findings on fetal MR imaging, which is more similar to findings in prior studies of fetal ACC using either fetal MR imaging and/or postnatal imaging. 4,5,10,11,28,29 In addition, fetal MR imaging identified abnormalities not detected by prenatal sonography in most (83%) patients; this difference is in agreement with prior studies and further supports the need for fetal MR imaging in cases of sonographically suspected ACC. 5,28,30,32,33 In most fetuses, the additional abnormalities were suggestive of a developmental etiology.…”

“…20 Posterior fossa abnormalities were also a common additional finding, which has been observed in other studies of prenatally diagnosed ACC with fetal and/or postnatal MR imaging. 4,10,11,[28][29][30] Interestingly, cerebellar hemispheric abnormalities were more common than vermian abnormalities in our study, a finding that is similar to those in other prenatal MR imaging studies 4,10 but different from those in postnatal MR imaging studies, 20,31 perhaps due to the difficulty in evaluating the fetal vermis or due to termination of those cases with prenatally diagnosed cerebellar abnormalities. Brain stem abnormalities were also common, occurring in 33% of patients in our study.…”

“…This is lower than what has been reported in previous studies using fetal MR imaging 4,5,10,28 and may be due to the younger gestational age and increased number of fetuses in our study. If we exclude sulcation delay, then 69% had additional findings on fetal MR imaging, which is more similar to findings in prior studies of fetal ACC using either fetal MR imaging and/or postnatal imaging.…”

Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis

“…Due to a number of inborn errors of metabolism that may present with CCD, a metabolic work up should also be performed. The neuroimaging methods usually available (MRI, CT in any age, and US in babies and infants with open anterior fontanelle) may identify cases of CCD even antenatally, allowing for the prenatal diagnosis of this condition 14,15 . Due to the high frequency of mosaic trisomy 8 in children with CCD, a significant number of metaphases should ideally be counted in order to exclude a mosaic trisomic lineage.…”

Fetal Kraniyospinal ve Fasiyal Anomaliler

“…Korpus kallozumun posterior kısmının (splenium) yokluğu ile karakterize olan parsiyel formunun prenatal tanısı zordur [21].…”