Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis.
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.
Garcia-Muñoz
M J
MJ
Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biología Molecular, Universidad Autónoma, Madrid, Spain.
Belloque
J
J
Merinero
B
B
Pérez-Cerdá
C
C
Sanz
P
P
Ugarte
M
M
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*
D012694:Serine; D005998:Glycine