Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
Xinyao ZhouNatalie ChandlerLinbei DengJia ZhouMeizhen YuanLu-Ming SunPublished in: Prenatal diagnosis (2018)
Our study suggests that targeted skeletal gene panel sequencing is highly sensitive for prenatal diagnosis of fetuses presenting with unexpected ultrasound findings suggestive of a skeletal dysplasia.