Conclusion
PROS encompasses rare genetic disorders resulting from somatic, mosaic
gain-of-function mutation of the PIK3CA gene. As a result of the genetic
mosaicism, the clinical presentation is extremely variable.
Comprehensive diagnostics are expensive, time-consuming and they place
an unnecessary burden on the infant and its family. A prenatal diagnosis
of this extremely rare mutation enables physicians a simplified
interdisciplinary perinatal management. Moreover, it offers parents and
family members to be involved in the assessment process in the context
of an informed consent. Nevertheless, diagnosis of PROS remains
challenging, both pre- and postnatally and unfortunately, the diagnosis
is rarely made prenatally. Therefore, physicians and parents stay in the
dark for a long time regarding a definitive diagnosis and promising
therapy.