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Prenatal Diagnosis of Inborn Errors of Metabolism
Author(s) -
Matalon Reuben
Publication year - 1976
Publication title -
international journal of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.895
H-Index - 97
eISSN - 1879-3479
pISSN - 0020-7292
DOI - 10.1002/j.1879-3479.1976.tb00616.x
Subject(s) - amniotic fluid , medicine , prenatal diagnosis , fetus , inborn error of metabolism , heterozygote advantage , fetoscopy , metabolism , pregnancy , obstetrics , physiology , pathology , endocrinology , genetics , biology , genotype , gene
More than 50 inborn errors of metabolism can be diagnosed in the fetus. This is accomplished by evaluation of constituents of the cell free amniotic fluid or of cultured or uncultured amniotic fluid cells. Only those syndromes with specific abnormal contributions to amniotic fluid can be so diagnosed. Currently diagnosable diseases and their assay methods are reviewed. Such assay methods must be able to differentiate the unaffected heterozygote from the affected homozygote.