Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis using ultrasound in Southern China

Although pulmonary stenosis (PS) is relatively common, the genetic etiology of congenital PS in fetuses is poorly studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations associated with PS in fetuses. Fetal amniotic fluid and umbilical cord blood samples were extracted for chromosomal karyotype analysis and CMA.