Prenatal diagnosis of Duchenne muscular dystrophy: failure of amniotic fluid and maternal serum N tau-methylhistidine analyses to detect affected fetuses.

Publication/Presentation Date

5-15-1982

Abstract

N tau-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 mumoles/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.

Volume

143

Issue

2

First Page

216

Last Page

219

ISSN

0002-9378

Disciplines

Medicine and Health Sciences | Pediatrics

PubMedID

7081334

Department(s)

Department of Pediatrics

Document Type

Article

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