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Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses
Author(s) -
Segers Karin,
Pierquin Genevieve,
Gaillez Stephanie,
Delbecque Katty,
Retz Maria,
Tebache Malek,
Waterham Hans,
Wanders Ronald,
Ferdinandusse Sacha,
Debray FrançoisGuillaume
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4038
Subject(s) - zellweger syndrome , prenatal diagnosis , lissencephaly , peroxisomal disorder , medicine , pregnancy , fetus , pediatrics , obstetrics , genetics , biology , gene , peroxisome , receptor
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.