Thirteen WES (72%) were normal (11 iACC, 2 aACC). WES results were available within an average of 21 days. Variants of unknown significance (VUS) and secondary findings were not reported. Only pathogenic variants in known ACC genes were considered. Trio WES were performed on fetal DNA extracted from amniotic fluid sampling.

Our study aims to evaluate the feasibility of prenatal testing of all known ACC genes using whole exome sequencing (WES).Įighteen fetuses with ACC were included (ongoing inclusions): 14 iACC and 4 cases of ACC associated to other anomalies (aACC). Thus, parents make the decision to continue or terminate the pregnancy on statistics. Among genetic etiologies, only chromosomal causes are investigated (karyotyping and microarray) during prenatal period while ACC with ID is due to a single gene mutation in most cases. In case of isolated ACC (iACC), neurodevelopment is within normal range in 80 % of cases whereas 20 % of children present mild to severe intellectual disability (ID). APHP, Fetal Medicine Department, Trousseau Hospital, Sorbonne Medicine University, Paris, FranceĪgenesis of the corpus callosum (ACC) is usually diagnosed by prenatal ultrasound examination. APHP, Department of pediatric radiology, Armand Trousseau hospital, Paris, France, 4Department of genetics, Le Havre hospital, Le Havre, France, 5APHP, Departement of obstetrics, Cochin hospital, Paris, France, 6Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France, 7APHM, Department of pediatric neurology, La Timone hospital, Marseille, France, 8Department of clinical genetics, CHU d’Angers, Angers, France, 9Department of clinical genetics, CHU de Reims, Reims, France, 10APHP, Department of cytogenetics, Trousseau hospital, Paris, France, 11HCL, Department of pediatric neurology, HFME, Bron, France, 12HCL, Department of radiology, HFME, Bron, France, 1314. Heron 1 1APHP, Department of Genetics, Armand-Trousseau and Pitié Salpêtrière hospital, Reference Center for Intellectual disability of Rare Causes, Paris, France, 2APHP, Department of pediatric neurology, Armand Trousseau hospital, Paris, France, 34. P01.01A Prenatal whole exome sequencing in agenesis of the corpus callosum S.

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