Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Bobby K BrarMarisa Gilstrop ThompsonNeeta L VoraKelly GilmoreKarin BlakemoreKristen A MillerJessica L GiordanoAndreas DufkeBeatrix WongSamantha StoverBillie LianoglouIgnatia B Van den VeyverEsther DempseyMara RosnerKaren ChongDavid ChitayatTeresa N SparksMary E NortonRonald WapnerKristin BarananoAngie C Jelinnull nullPublished in: Prenatal diagnosis (2022)
The presence of ventriculomegaly with cerebellar abnormalities in conjunction with additional prenatal neurosonographic findings warrants additional evaluation for a tubulinopathy. Conclusive diagnosis can be achieved by molecular sequencing, which may assist in coordination, prognostication, and reproductive planning.