A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis
| Autor: | Claire Guissart, Victoria Viart, Eric Bieth, Anne Girardet, Cécile Rouzier, Marie-Claire Vincent, Vanessa Debant, Mireille Claustres, Philippe Khau Van Kien, Emmanuelle Haquet, Caroline Raynal, Marie-Pierre Brechard, Frédéric Tran Mau Them, Michel Koenig, Jacques Puechberty, Charlotte Dubucs, Victoria Pritchard, Amandine Boureau-Wirth |
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| Přispěvatelé: | Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of Florida [Gainesville] (UF), Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Montpellier, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse] |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Embryology
[SDV]Life Sciences [q-bio] Cystic Fibrosis Transmembrane Conductance Regulator Prenatal diagnosis Locus (genetics) Bioinformatics Cystic fibrosis p.Phe508del 03 medical and health sciences 0302 clinical medicine Cell-free fetal DNA Prenatal Diagnosis Multiplex polymerase chain reaction medicine Humans Radiology Nuclear Medicine and imaging 030212 general & internal medicine Allele 030219 obstetrics & reproductive medicine business.industry Haplotype Haplotyping Obstetrics and Gynecology General Medicine Multiplex PCR medicine.disease 3. Good health Haplotypes Pediatrics Perinatology and Child Health Microsatellite business Cell-Free Nucleic Acids Multiplex Polymerase Chain Reaction Noninvasive prenatal diagnosis |
| Zdroj: | Fetal Diagnosis and Therapy Fetal Diagnosis and Therapy, Karger, 2019, 45 (6), pp.403-412. ⟨10.1159/000489776⟩ |
| ISSN: | 1015-3837 1421-9964 |
| Popis: | Background: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF). Methods: The test, based on haplotyping, includes nine intra- and extragenic short tandem repeats of the CFTR locus, the coamplification of p.Phe508del (the most frequent mutation in CF patients worldwide), and a specific SRY sequence. The assay is able to determine the inherited paternal allele. Results: Our simple approach was successfully applied to 30 couples and provided clear results from the maternal plasma. The mean rate of informative markers was sufficient to propose it for use in indirect diagnosis. Conclusions: This noninvasive prenatal diagnosis test, focused on indirect diagnosis of CF, offers many advantages over current methods: it is simple, rapid, and cost-effective. It allows for the testing of a large number of couples with high risk of CF, whatever the familial mutation of the CFTR gene. It provides an alternative method to reduce the number of invasive tests. |
| Databáze: | OpenAIRE |
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