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

Authors


  • Funding sources: None

  • Conflicts of interest: None declared

Correspondence to: François-Guillaume Debray. E-mail: fg.debray@chu.ulg.ac.be

Abstract

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.

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