Funding sources: None
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses
Article first published online: 9 JAN 2013
© 2013 John Wiley & Sons, Ltd.
Volume 33, Issue 2, pages 201–203, February 2013
How to Cite
Segers, K., Pierquin, G., Gaillez, S., Delbecque, K., Retz, M., Tebache, M., Waterham, H., Wanders, R., Ferdinandusse, S. and Debray, F.-G. (2013), Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. Prenat. Diagn., 33: 201–203. doi: 10.1002/pd.4038
Conflicts of interest: None declared
- Issue published online: 3 FEB 2013
- Article first published online: 9 JAN 2013
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.