Agenesis of corpus callosum: prenatal diagnosis and prognosis

Abstract

This study demonstrates that if outcome of isolated ACC is favorable, a long follow-up is necessary: with age, IQ in the lower range and behavioral troubles are linked to difficulties in school.

Disorders of prosencephalic development

“…A definitive diagnosis of ACC relies on recognition of the direct signs (Pilu et al, 1993;Moutard et al, 2003;D'Addario et al, 2005), which consist of the demonstration of the absence of the CC on mid-sagittal and coronal views of the fetal brain. In particular, the mid-sagittal plane will demonstrate absence of the CC and, in advanced gestation or post-natally, an atypical radiating appearance of the median sulci, which converge toward the third ventricle ( Figure 6).…”

“…Prognosis: Although the overall prognosis of ACC remains controversial, several studies have reported a worse prognosis in the presence of additional anomalies (Shevell et al, 2002;Moutard et al, 2003;Volpe et al, 2006). In fact ACC is often associated with major cerebral and/or extracerebral malformations, including 50 different human congenital syndromes, and metabolic diseases (Tables 1, 2, 3, 4).…”

“…In the cases of apparently isolated ACC, it appears to carry a better prognosis (Pilu et al, 1993;Moutard et al, 2003;Volpe et al, 2006). However, caution must be adopted in these cases when assessing the fetal/neonatal prognosis.…”

“…The systematic use of late fetal MRI could improve the detection of associated malformations of cortical development (MCD) in these (Moutard et al, 2003). For this reason some authors (Salomon and Garel, 2007) prefer to wait until the beginning of the third trimester (28-32 weeks) because some sulci are not visible before 26-28 weeks, while narrow pericerebral spaces hinder visibility of the sulci after 34 weeks.…”

“…The second point is that, regardless of the associated anomalies, significant neurodevelopmental delay develops in a consistent proportion of cases (15-36%) (Pilu et al, 1985;Moutard et al, 2003;Volpe et al, 2006;Fratelli et al, 2007), even if complete ACC is confirmed to be isolated post-natally. The same also applies to isolated PACC.…”