Prenatal diagnosis of duchenne muscular dystrophy: failure of amniotic fluid and maternal serum Nτ-methylhistidine analyses to detect affected fetuses

Steven J. Wassner, Jeanne B. Li, Roger L. Ladda, Robert P. Lorenz, Alan E.H. Emery

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Abstract

Nτ-Methylhistidine (MH) and creatinine levels were determined in amniotic fluid and maternal serum from 81 women undergoing midtrimester amniocentesis for reasons other than the diagnosis of neuromuscular disease. Samples were also examined in three pregnancies with male fetuses who were subsequently found to have Duchenne muscular dystrophy (DMD). Between 16 and 20 weeks' gestation, amniotic fluid and maternal serum MH levels averaged 3.22 and 1.94 μmoles/L, respectively. No significant differences were found between the control and affected fetuses for MH and creatinine levels or for MH/creatinine ratios from amniotic fluid or maternal serum. Determination of amniotic fluid MH level thus has no apparent value in the prenatal diagnosis of DMD.

Original languageEnglish (US)
Pages (from-to)216-219
Number of pages4
JournalAmerican journal of obstetrics and gynecology
Volume143
Issue number2
DOIs
StatePublished - May 15 1982

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All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology

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