Prenatal Diagnosis of congenital disorder of glycosylation type la (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

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dc.contributor.authorEdwards, M.
dc.contributor.authorMcKenzie, F.
dc.contributor.authorO'Callaghan, S.
dc.contributor.authorSomerset, D.
dc.contributor.authorWoodford, P.
dc.contributor.authorSpilsbury, J.
dc.contributor.authorFietz, M.
dc.contributor.authorFletcher, J.
dc.date.issued2006
dc.descriptionCopyright © 2006 John Wiley & Sons
dc.description.abstractBlood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG-Ia). A diagnosis of CDG-Ia was confirmed by enzyme analysis of cultured amniocytes. This is the first report of CDG-Ia diagnosed by serum analysis in a fetus. Previous reports have warned that diagnostic abnormalities do not appear in serum until several weeks after birth. The sensitivity of cordocentesis transferrin IEF is unknown but is less than 100% effective because cases have been diagnosed postnatally after normal prenatal or neonatal studies. Enzyme analysis or mutation analysis is required for diagnosis of congenital disorder of glycosylation (CDGs) regardless of whether a diagnostic transferrin pattern is identified prenatally. The analysis of a small sample of serum, from cordocentesis, performed to check for fetal anemia, simplified the investigation, diagnosis, and genetic counselling of a case of non-immune hydrops detected at 27 weeks' gestation. This might be a useful test for other cases in these circumstances, as fetal blood is usually collected to check for anemia.
dc.description.statementofresponsibilityMatthew Edwards, Fiona McKenzie, Stephen O'Callaghan, David Somerset, Phillip Woodford, Jillian Spilsbury, Michael Fietz and Janice Fletcher
dc.identifier.citationPrenatal Diagnosis, 2006; 26(10):985-988
dc.identifier.doi10.1002/pd.1543
dc.identifier.issn0197-3851
dc.identifier.issn1097-0223
dc.identifier.urihttp://hdl.handle.net/2440/24101
dc.language.isoen
dc.publisherJohn Wiley & Sons Ltd
dc.source.urihttps://doi.org/10.1002/pd.1543
dc.subjectnon-immune hydrops fetalis
dc.subjectoedema
dc.subjectfetal death in utero
dc.subjectcongenital disorder of glycosylation
dc.subjectCDG-Ia
dc.subjectserum transferrin isoforms
dc.subjectcordocentesis
dc.subjectprenatal diagnosis
dc.titlePrenatal Diagnosis of congenital disorder of glycosylation type la (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops
dc.typeJournal article
pubs.publication-statusPublished

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