Prenatal diagnosis of Potocki–Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery

Potocki–lupski syndrome (ptls) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. we report the first case of prenatal diagnosis of ptls in a fetus with hypoplastic left heart and aberrant right subclavian artery. detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with ptls.