PKS is commonly diagnosed by detecting its causative sSMC as defined by identifying the overexpression of its genetic material. This method has detected the sSMC and therefore diagnosed a fetus as having PKS based on genomic analyses of fetal skin fibroblasts, placenta chorionic villi, cells isolated from the amniotic fluid, fibroblasts isolated from the fetus's umbilical cord, and cells isolated from the fetus's umbilical cord blood.
PKS is typically identified by detecting its causative sSMC, which involves identifying increased levels of its genetic material. This approach has detected the sSMC and thus diagnosed a fetus with PKS based on genomic analysis of fetal skin fibroblasts, placental chorionic villi cells, amniotic fluid cells, umbilical cord fibroblasts, and umbilical cord blood cells.