Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses

摘要

What's already known about this topic? Neuronal migration disorders are caused by many genetic conditions. Zellweger syndrome is a rare autosomal recessive cause. Prenatal diagnosis can be performed in further pregnancies. What does this study add? We show that early prenatal diagnosis can be reached by biochemical testing in pregnancies at risk for ZSS, even when no definite diagnosis has been established in a previous pregnancy. ZSS should be considered in fetus presenting with lissencephaly and other specific congenital anomalies.