Academic Journal
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency
| العنوان: | DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency |
|---|---|
| المؤلفون: | Olsen, Rikke K J, Andresen, Brage S, Christensen, Ernst, Mandel, Hanna, Skovby, Flemming, Nielsen, Jens Peter, Knudsen, Inga, Vianey-Saban, Christine, Simonsen, Henrik, Gregersen, Niels |
| المصدر: | Olsen , R K J , Andresen , B S , Christensen , E , Mandel , H , Skovby , F , Nielsen , J P , Knudsen , I , Vianey-Saban , C , Simonsen , H & Gregersen , N 2005 , ' DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency ' , Prenatal Diagnosis , vol. 25 , no. 1 , pp. 60-4 . https://doi.org/10.1002/pd.983 |
| سنة النشر: | 2005 |
| المجموعة: | Aarhus University: Research |
| مصطلحات موضوعية: | Acyl-CoA Dehydrogenase/deficiency, Adult, Cells, Cultured, Chorionic Villi Sampling/methods, DNA/analysis, Electron-Transferring Flavoproteins/genetics, Female, Humans, Iron-Sulfur Proteins/genetics, Mutation, Oxidoreductases Acting on CH-NH Group Donors/genetics, Pregnancy, Pregnancy Trimester, First, Reproducibility of Results |
| الوصف: | OBJECTIVES: Multiple acyl-CoA dehydrogenation deficiency (MADD) is a clinically heterogeneous disorder of mitochondrial fatty acid, amino acid, and choline oxidation due to mutations in the genes encoding electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase (ETFQO). So far, prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of amniotic fluid or cultured amniocytes. We report here on an alternative DNA-based approach for prenatal diagnosis in pregnancies at risk of MADD. METHODS: We used our knowledge of the mutational status in three unrelated families with a history of MADD to perform direct sequencing for the familial mutations using genomic DNA isolated from chorionic villus samples (CVS) at gestational week 10 to 11. RESULTS: Within two days, we were able to carry out accurate DNA-based prenatal testing in one pregnancy at risk of severe MADD, and in two pregnancies at risk of variant forms of MADD. CONCLUSION: This is the first report of DNA-based prenatal diagnosis of MADD. Our molecular approach is suitable for fast and reliable first-trimester prenatal diagnosis in pregnancies at risk of severe and variant forms of MADD. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | https://pure.au.dk/portal/da/publications/dnabased-prenatal-diagnosis-for-severe-and-variant-forms-of-multiple-acylcoa-dehydrogenation-deficiency(a887f0c3-8cb4-41a8-b857-a7912e8b5092).html |
| DOI: | 10.1002/pd.983 |
| الاتاحة: | https://pure.au.dk/portal/da/publications/dnabased-prenatal-diagnosis-for-severe-and-variant-forms-of-multiple-acylcoa-dehydrogenation-deficiency(a887f0c3-8cb4-41a8-b857-a7912e8b5092).html https://doi.org/10.1002/pd.983 |
| Rights: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.5167A573 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/pd.983 |
|---|