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  • Title: Pyruvate kinase in fetal plasma and amniotic fluid unsuccessful for the prenatal diagnosis of Duchenne muscular dystrophy.
    Author: Edwards RJ, Rodeck CH, Watts DC.
    Journal: Am J Med Genet; 1984 Jun; 18(2):231-5. PubMed ID: 6465199.
    Abstract:
    A specific spectrophotometric assay of muscle-pyruvate kinase (M-PK) was used to measure the activity of this isozyme in fetal muscle, fetal plasma and amniotic fluid at about 17-24 wk of gestational age to assess its predictive value for the prenatal diagnosis of Duchenne muscular dystrophy (DMD). Fetal muscle obtained after termination was found to contain a high M-PK specific activity. No significant activity was detected in amniotic fluid from normal or at-risk fetuses. Pure fetal blood was obtained in utero by fetoscopy; significant plasma levels of M-PK activity were measured in a series of control samples, but at-risk fetal plasma contained no higher levels. We conclude that M-PK is of no use for the prenatal diagnosis of DMD.
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