Prenatal Diagnosis of Myotonic Dystrophy Using Fetal DNA Obtained from Maternal Plasma
Authors:
Open Access
- 1 February 2000
- journal article
- clinical trial
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 46 (2) , 301-302
Abstract
Myotonic dystrophy (DM; MIM 160900) is an autosomal dominant disorder associated with expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region of the DM kinase gene (DMPK) on chromosome 19q13 ( 1). Patients are heterozygous for expanded alleles in the range of 50–4000 repeats ( 1). The molecular diagnosis of DM routinely is performed by analyzing the CTG number on genomic DNA extracted from various biological sources, including trophoblast cells sampled at 10–11 weeks of amenorrhea during the first trimester of pregnancy ( 2)( 3). We evaluated the possibility of using maternal plasma for prenatal diagnosis of DM, by monitoring the pregnancy of an unaffected woman whose husband was affected by DM (70 CTG repeats).Keywords
This publication has 6 references indexed in Scilit:
- Increased Fetal DNA Concentrations in the Plasma of Pregnant Women Carrying Fetuses with Trisomy 21Clinical Chemistry, 1999
- A Single Polymerase Chain Reaction-Based Protocol for Detecting Normal and Expanded Alleles in Myotonic DystrophyDiagnostic Molecular Pathology, 1998
- Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal DiagnosisThe American Journal of Human Genetics, 1998
- Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cellsHuman Genetics, 1996
- Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCRHuman Mutation, 1996
- Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family memberCell, 1992