Objectives: Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. Methods: We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. Results: Prenatal imaging showed SCC in all cases (n = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (n = 14), septal dysmorphism (n = 14), parallel lateral ventricles (n = 12), and ventriculomegaly (n = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. Conclusions: SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.

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What are the novel findings of this work?This is the first study to use an objective psychomotor test to compare the developmental quotient (DQ) of infants who had increased fetal nuchal translucency (NT) thickness in the first trimester and normal karyotype with that of a matched control group with normal NT. The mean DQ in the increased-NT group was significantly lower than that in the control group at 2 years of corrected age; however, it was within the normal range expected for that age, even when NT was > 5 mm. What are the clinical implications of this work?The findings of this study should provide reassurance to prospective parents of fetuses with isolated increased NT and should open up new avenues of research.