Summary
Of three clinically significant galactose disorders, there is only a real need and experience of prenatal diagnosis in classical galactosaemia. Prenatal diagnosis for this disorder may be carried out by galactose-1-phosphate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.
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Holton, J.B., Allen, J.T. & Gillett, M.G. Prenatal diagnosis of disorders of galactose metabolism. J Inherit Metab Dis 12 (Suppl 1), 202–206 (1989). https://doi.org/10.1007/BF01799295
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DOI: https://doi.org/10.1007/BF01799295