title: Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops.
abstract: Blood 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.
authors.affiliation: Hunter Genetics, Hunter New England Area Health Service, Newcastle, Australia. matthew.edwards@hnehealth.nsw.gov.au
authors.forename: Matthew
authors.initials: M
authors.lastname: Edwards
authors.forename: Fiona
authors.initials: F
authors.lastname: McKenzie
authors.forename: Stephen
authors.initials: S
authors.lastname: O'callaghan
authors.forename: David
authors.initials: D
authors.lastname: Somerset
authors.forename: Phillip
authors.initials: P
authors.lastname: Woodford
authors.forename: Jillian
authors.initials: J
authors.lastname: Spilsbury
authors.forename: Michael
authors.initials: M
authors.lastname: Fietz
authors.forename: Janice
authors.initials: J
authors.lastname: Fletcher
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D017218:Cordocentesis; D005260:Female; D005313:Fetal Death; D006031:Glycosylation; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis*; D007525:Isoelectric Focusing; D017875:Phosphotransferases (Phosphomutases) / Q000032:analysis / Q000235:genetics / Q000378:metabolism*; D011296:Prenatal Diagnosis / Q000379:methods*; D014168:Transferrin
chemical_list: D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase