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Prenatal diagnosis of disorders of galactose metabolism
Author(s) -
Holton J. B.,
Allen J. T.,
Gillett M. G.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799295
Subject(s) - prenatal diagnosis , galactosemia , galactitol , amniotic fluid , pregnancy , galactose , medicine , amniocentesis , fetus , obstetrics , endocrinology , physiology , biology , biochemistry , genetics
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.