Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

Abstract Background: The corpus callosum is the main pathway connect the interhemispheric communication. Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. However, few cases have been previously reported in the literature on prenatal diagnosis between corpus callosum agenesis and chromosomes abnormality. The study included prenatal diagnosis of 4 fetuses in whom prenatal ultrasound showed corpus callosum abnormality, isolated or associated with other central nervous lesions.Case presentation: Prenatal diagnoses of four children were summarized in our case. The routine prenatal ultrasound examination showed abnormal morphology of corpus callosum in fetus 1, dysplasia of the corpus callosum in fetus 3, the corpus callosum absence in fetus 2 and fetus 4, and fetus 4 also had cardiac abnormalities. Chromosomal microarray and G-band karyotype analysis were performed to provide genetic analysis of amniotic fluid. The results revealed 4.8M deletion at 1p36.33p36.31 in fetus 1, 3.1M deletion at Xq26.3q27.1 in fetus 2, 6.5M deletion at distal 1q43q44 and a duplication of 8.8M at 7q36.1q36.3 in fetus 3, fetus 4 had a deletion of 9.51M at 1p36.33p36.22 and 14.3M duplication at 6q25.3q27.Conclusion: The genetic mechanism of corpus callosum agenesis is variably complex, and its clinical phenotype may occur either alone or in association with other abnormalities. This study revealed the microabnormalities of multiple chromosomes are related to the corpus callosum abnormality. Combined with ultrasound examination, the application of chromosome microarray analysis will effectively improve the diagnosis of congenital submicroscopic chromosomal abnormalities in fetuses.