Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience
Prenatal diagnosis of inherited metabolic disease is possible when suitable samples of fetal material are available and when these samples express a clear biochemical abnormality that is specific to that disorder. In the past, tests have been carried out by enzyme assay on cultured amniotic fluid cells and/or analysis of amniotic fluid for metabolites. These tests, carried out late into pregnancy (16 weeks plus), cause much anxiety and added risks to mothers. With the advent of first trimester chorionic villus sampling, tests may now be carried out directly on chorionic villus samples (CVS) with results available in a matter of days (Poenaru, 1987; Sachs et al., 1988). The advantages to those at risk are obvious but like many new techniques specific problems may arise.
KeywordsPrenatal Diagnosis Chorionic Villus Zellweger Syndrome Amniotic Fluid Cell Propionic Acidemia
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