Lessons learnt from prenatal exome sequencing.
Natalie Jane ChandlerElizabeth ScotchmanRhiannon MellisVijaya RamachandranRowenna RobertsLyn S ChittyPublished in: Prenatal diagnosis (2022)
Variant interpretation requires close communication between referring clinicians, with occasional additional examination of the fetus or parents and communication of evolving phenotypes. Inheritance filtering misses ∼5% of diagnoses. Panel analysis reduces but does not exclude incidental findings. Regular review of published literature is required to identify new reports that may aid classification.