Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
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| Titel: | Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening |
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| Autoren: | Brison, Nathalie, Storms, Jazz, Villela, Darine, Claeys, Kristl G., Dehaspe, Luc, de Ravel, Thorny, De Waele, Liesbeth, Goemans, Nathalie, Legius, Eric, Peeters, Hilde, Van Esch, Hilde, Race, Valerie, Vermeesch, Joris Robert, Devriendt, Koenraad, Van den Bogaert, Kris |
| Weitere Verfasser: | Medical Genetics |
| Quelle: | Genetics in Medicine. 21:2774-2780 |
| Verlagsinformationen: | Elsevier BV, 2019. |
| Publikationsjahr: | 2019 |
| Schlagwörter: | Adult, 0301 basic medicine, DNA Copy Number Variations, DATABASE, Noninvasive Prenatal Testing, Sequence Analysis, DNA/ethics, DNA Copy Number Variations/genetics, 3105 Genetics, Noninvasive Prenatal Testing/ethics, DUCHENNE MUSCULAR-DYSTROPHY, Dystrophin, 03 medical and health sciences, Fetus, Pregnancy, Prenatal Diagnosis/ethics, Prenatal Diagnosis, Humans, DYSTROPHINOPATHY, Dystrophin/genetics, Genetics & Heredity, 0604 Genetics, Incidental Findings, 0303 health sciences, Science & Technology, 1103 Clinical Sciences, DNA, Sequence Analysis, DNA, 3. Good health, MODEL, fetus, NIPS, secondary findings, Female, pregnancy, Life Sciences & Biomedicine, DMD gene, maternal CNV |
| Beschreibung: | Noninvasive prenatal screening (NIPS) using genome sequencing also reveals maternal copy-number variations (CNVs). Those CNVs can be clinically actionable or harmful to the fetus if inherited. CNVs in the DMD gene potentially causing dystrophinopathies are among the most commonly observed maternal CNVs. We present our experience with maternal DMD gene CNVs detected by NIPS.We analyzed the data of maternal CNVs detected in the DMD gene revealed by NIPS.Of 26,123 NIPS analyses, 16 maternal CNVs in the DMD gene were detected (1/1632 pregnant women). Variant classification regarding pathogenicity and phenotypic severity was based on public databases, segregation analysis in the family, and prediction of the effect on the reading frame. Ten CNVs were classified as pathogenic, four as benign, and two remained unclassified.NIPS leverages CNV screening in the general population of pregnant women. We implemented a strategy for the interpretation and the return of maternal CNVs in the DMD gene detected by NIPS. |
| Publikationsart: | Article |
| Sprache: | English |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/s41436-019-0564-4 |
| Zugangs-URL: | https://www.nature.com/articles/s41436-019-0564-4.pdf https://pubmed.ncbi.nlm.nih.gov/31197268 https://researchportal.vub.be/nl/publications/maternal-copy-number-variations-in-the-dmd-gene-as-secondary-find https://www.nature.com/articles/s41436-019-0564-4.pdf https://www.nature.com/articles/s41436-019-0564-4 https://www.ncbi.nlm.nih.gov/pubmed/31197268 https://biblio.vub.ac.be/vubir/maternal-copynumber-variations-in-the-dmd-gene-as-secondary-findings-in-noninvasive-prenatal-screening(e41bc943-5328-4d97-ab96-e75947fcd596).html |
| Rights: | Springer TDM |
| Dokumentencode: | edsair.doi.dedup.....3b58ddfaa22b0a77211f3e82a0ce36e8 |
| Datenbank: | OpenAIRE |
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Nájsť tento článok vo Web of Science | Abstract: | Noninvasive prenatal screening (NIPS) using genome sequencing also reveals maternal copy-number variations (CNVs). Those CNVs can be clinically actionable or harmful to the fetus if inherited. CNVs in the DMD gene potentially causing dystrophinopathies are among the most commonly observed maternal CNVs. We present our experience with maternal DMD gene CNVs detected by NIPS.We analyzed the data of maternal CNVs detected in the DMD gene revealed by NIPS.Of 26,123 NIPS analyses, 16 maternal CNVs in the DMD gene were detected (1/1632 pregnant women). Variant classification regarding pathogenicity and phenotypic severity was based on public databases, segregation analysis in the family, and prediction of the effect on the reading frame. Ten CNVs were classified as pathogenic, four as benign, and two remained unclassified.NIPS leverages CNV screening in the general population of pregnant women. We implemented a strategy for the interpretation and the return of maternal CNVs in the DMD gene detected by NIPS. |
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| ISSN: | 10983600 |
| DOI: | 10.1038/s41436-019-0564-4 |