Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Gillian V BlayneyEoghan LaffanPreethi A JacobCaitlin D BaptisteHeinz GabrielTeresa N SparksYuval YaronMary E NortonKarin E M DiderichYiming WangKaren ChongDavid ChitayatNeelam SainiShagun AggarwalMontse PautaAntoni BorrellKelly GilmoreNatalie Jane ChandlerStephanie K AllenNeeta L VoraAbdul NoorCaitriona MonaghanMark David KilbyRonald J WapnerLyn S ChittyFionnuala MonePublished in: Prenatal diagnosis (2023)
Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.