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Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis
M J Garcia-Muñoz1, J Belloque, B Merinero
1Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biología Molecular, Universidad Autónoma, Madrid, Spain.
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.
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.