Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.
Keywords: Fetal imaging; Noonan syndrome; PTPN11; genetic counseling; single gene disorders; whole exome sequencing.