Prenatal diagnosis of non‐ketotic hyperglycinemia

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Abstract
We describe successful prenatal diagnosis in four pregnancies at risk for non‐ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/ serine ratio in amniotic fluid obtained at 16 weeks gestational age. Although this method of prenatal diagnosis for non‐ketotic hyperglycinemia has been effective in our hands the narrow differences between affected and unaffected pregnancies indicate the need for caution concerning its reliability.