P778: Prenatal detection of somatic PIK3CA mosaicism using next-generation sequencing

Genetics in Medicine Open 2026 Open access

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Authors: Amanda Thomas-Wilson, Malika Sud, Jessica Giordano, Erica S. Spiegel, Shivarajan Manickavasagam, Caitlin D. Baptiste, Carrie J. Shawber, Ronald WAPNER, Vaidehi Jobanputra
DOI: 10.1016/j.gimo.2026.104270
Cited by: 0

Abstract

Early diagnosis provided the parents with clarity regarding the fetal anomalies and prognosis. Both patients were counseled about an extremely low recurrence risk for future pregnancies, as PIK3CA variants are typically post-zygotic mutations with no reported vertical transmission.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Cancer Genomics and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104270–104270
Publication date
1 January 2026
Language
EN