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

Publikováno v: 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

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 origi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9f4b55db7b9010c8cbd85795a63ee1
https://doi.org/10.1038/gim.2017.132

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

Autor: Maria Rasmussen, Lone Sunde, Olav Bjørn Petersen, Charlotte Brasch-Andersen, Dea Svaneby, Jesper Graakjaer, Maria Kibaek, Else Marie Vestergaard, Yanko Petkov, Christina Fagerberg, Iben Bache

Publikováno v: Rasmussen, M, Vestergaard, E M, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibæk, M, Svaneby, D, Petersen, O B, Brasch-Andersen, C & Sunde, L 2016, ' 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature ', American Journal of Medical Genetics. Part A, vol. 170, no. 11, pp. 2934-2942 . https://doi.org/10.1002/ajmg.a.37848
Rasmussen, M, Vestergaard, E M, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibaek, M, Svaneby, D, Petersen, O B, Brasch-Andersen, C & Sunde, L 2016, ' 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. ', American Journal of Medical Genetics. Part A, vol. 170, no. 11, pp. 2934-2942 . https://doi.org/10.1002/ajmg.a.37848

17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large natio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3878ac84b948cb54ada11aa5f4b53d29
https://portal.findresearcher.sdu.dk/da/publications/71469516-a0e8-40fb-ac78-201d77bf51ff

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Autor: Dondorp, W., Wert, G. de, Bombard, Y., Bianchi, D.W., Bergmann, C., Borry, P., Chitty, L.S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H.C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjaerg, L., C.G. van el, Cornel, M.C., European Soc Human Genetics, American Soc Human Genetics

Publikováno v: European Journal of Human Genetics, 23(11), 1438-1450
European Journal of Human Genetics
European Journal of Human Genetics : Ejhg, vol. 23, no. 11, pp. 1438-1450
Dondorp, W, de Wert, G, Bombard, Y, Bianchi, D W, Bergmann, C, Borry, P, Chitty, L S, Fellmann, F, Forzano, F, Hall, A, Henneman, L, Howard, H C, Lucassen, A, Ormond, K, Peterlin, B, Radojkovic, D, Rogowski, W, Soller, M, Tibben, A, Tranebjaerg, L, van El, C G & Cornel, M C 2015, ' Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening ', European Journal of Human Genetics, vol. 23, no. 11, pp. 1438-1450 . https://doi.org/10.1038/ejhg.2015.57
Eur. J. Hum. Genet. 23, 1438-1450 (2015)
European Journal of Human Genetics, 23(11), 1438-1450. Nature Publishing Group

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal scree

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a6227a6287dc08a38e8fd952ead2dc
https://doi.org/10.1038/ejhg.2015.57