Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage
| Autor: | Fiona Macdonald, Samantha Court, Michael Parks, Julie Hewitt, Michael J. Griffiths, Trevor Cole, Siobhan Cleary, Denise Williams, Samuel Clokie, Stephanie Allen |
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| Rok vydání: | 2016 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Proband congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty 030219 obstetrics & reproductive medicine Massive parallel sequencing medicine.diagnostic_test Obstetrics Maternal Serum Screening Tests business.industry Haplotype Obstetrics and Gynecology Chorionic villus sampling Single-nucleotide polymorphism Prenatal diagnosis 030105 genetics & heredity 3. Good health 03 medical and health sciences 0302 clinical medicine medicine business Genetics (clinical) Genetic testing |
| Zdroj: | Prenatal Diagnosis. 36:312-320 |
| ISSN: | 0197-3851 |
| Popis: | Objective Development of an accurate and affordable test for the non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice. Method Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single nucleotide polymorphisms (SNPs) across the dystrophin gene on chromosome X. Sequencing data were analysed by relative haplotype dosage. Results Seven healthy pregnant donors and two pregnant DMD carriers all bearing a male fetus were recruited through the non-invasive prenatal diagnosis for single gene disorders study. Non-invasive prenatal diagnosis testing was conducted by relative haplotype dosage analysis for X-linked disorders where the genomic DNA from the chorionic villus sampling (for healthy pregnant donors) or from the proband (for pregnant DMD carriers) was used to identify the reference haplotype. Results for all patients showed a test accuracy of 100%, when the calculated fetal fraction was >4% and correlated with known outcomes. A recombination event was also detected in a DMD patient. Conclusion Our new test for NIPD of DMD/BMD has been shown to be accurate and reliable during initial stages of validation. It is also feasible for implementation into clinical service. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. |
| Databáze: | OpenAIRE |
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