The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing.

Kate SwansonMary E NortonBillie R LianoglouAngie C JelinUgur HodoglugilJessica Van ZifflePatrick DevineTeresa N Sparks

Published in: Prenatal diagnosis (2022)

These cases highlight challenges of perinatal ES related to incomplete prenatal phenotyping, demonstrate the utility of pathology evaluations to support diagnoses identified with ES, and further characterize the disease manifestations of specific genetic variants.

Keyphrases

pregnant women
high throughput
single cell
neoadjuvant chemotherapy
copy number
locally advanced
squamous cell carcinoma
mass spectrometry
radiation therapy
dna methylation
drug induced