Fetal central nervous system anomalies: When should we offer exome sequencing?
Caitlin D BaptisteRhiannon MellisVimla AggarwalJenny LordRuth EberhardtMark D KilbyEamonn R MaherRonald WapnerJessica L GiordanoLyn S ChittyPublished in: Prenatal diagnosis (2022)
ES is an important tool in the prenatal evaluation of fetuses with any CNS anomaly. The rate of LP/P variants tends to be highest in fetuses with multiple CNS anomalies and multisystem anomalies, however, ES may also be of benefit for isolated CNS anomalies.