Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
| Autor: | Opstal, D. van, Maarle, M.C. van, Lichtenbelt, K., Weiss, M.M., Schuring-Blom, H., Bhola, S.L., Hoffer, M.J.V., Huijsdens-van Amsterdam, K., Macville, M.V., Kooper, A.J.A., Faas, B.H.W., Govaerts, L., Tan-Sindhunata, G.M., Hollander, N. den, Feenstra, I., Galjaard, R.J.H., Oepkes, D., Ghesquiere, S., Brouwer, R.W.W., Beulen, L., Bollen, S., Elferink, M.G., Straver, R., Henneman, L., Page-Christiaens, G.C., Sistermans, E.A., Dutch NIPT Consortium |
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| Přispěvatelé: | MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Human Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Quality of Care, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Genetics, Cell biology |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
CVS MOSAICISM FETAL DNA Placenta DUTCH LABORATORIES MATERNAL MALIGNANCIES Aneuploidy noninvasive testing Chromosome Disorders Trisomy genome-wide NIPS Bioinformatics 0302 clinical medicine Pregnancy Prenatal Diagnosis/methods Prenatal Diagnosis TERM PLACENTAE Original Research Article Confined placental mosaicism Genetics (clinical) confined placental mosaicism 030219 obstetrics & reproductive medicine ANEUPLOIDIES Pregnancy Outcome Genomics ASSOCIATION trisomy 21 CONFIRMATION Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10] Cell-free fetal DNA CELL-FREE DNA Female Genetic Testing/methods Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] medicine.medical_specialty DNA Copy Number Variations Prenatal diagnosis Chromosome aberration 03 medical and health sciences All institutes and research themes of the Radboud University Medical Center medicine Placenta/metabolism Humans Genetic Testing PRENATAL-DIAGNOSIS Gynecology Chromosome Aberrations Autosome Whole Genome Sequencing business.industry ANEUPLOIDY Chromosome Disorders/diagnosis Other Research Radboud Institute for Health Sciences [Radboudumc 0] Chromosome medicine.disease Genomics/methods 030104 developmental biology prenatal screening business FOLLOW-UP |
| Zdroj: | Genetics in Medicine, 20, 480-485 Genetics in Medicine Genetics in Medicine, 20(5), 480-485. Nature Publishing Group Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132 Genetics in Medicine, 20, 5, pp. 480-485 Genetics in Medicine, 20(5), 480-485 Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins |
| ISSN: | 1530-0366 1098-3600 |
| Popis: | PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3.1%) NIPS was indicative of trisomy 21, 18, or 13, and in 41 (1.6%) of other chromosome aberrations. The latter were of fetal (n = 10), placental (n = 22), maternal (n = 1) or unknown (n = 7). One case lacked cytogenetic follow-up. Nine of the 10 fetal cases were associated with an abnormal phenotype. Thirteen of the 22 (59%) placental aberrations were associated with fetal congenital anomalies and/or poor fetal growth ( |
| Databáze: | OpenAIRE |
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