title: Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis.
abstract: We describe a prenatal diagnosis of a fetus at risk for non-ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false-negative prediction was made. The reliability of this method is questioned.
authors.affiliation: Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biología Molecular, Universidad Autónoma, Madrid, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Garcia-Muñoz
authors.forename: J
authors.initials: J
authors.lastname: Belloque
authors.forename: B
authors.initials: B
authors.lastname: Merinero
authors.forename: C
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: P
authors.initials: P
authors.lastname: Sanz
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000032:analysis*; D005260:Female; D005998:Glycine / Q000032:analysis* / Q000097:blood*; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012694:Serine / Q000032:analysis*
chemical_list: D012694:Serine; D005998:Glycine