Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Autor: van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.

Publikováno v: In The American Journal of Human Genetics 2 June 2022 109(6):1140-1152

NIPD for translocation carriers - yes please or no go?

Autor: Srebniak, Malgorzata I., Jehee, Fernanda S., Joosten, Marieke, Boter, Marjan, de Valk, Walter, van der Helm, Robert, Sistermans, Erik, Voorhoeve, Els, Bhola, Shama, Hoffer, Mariette, den Hollander, Nicolette, Macville, Merryn, Van Opstal, Diane

Publikováno v: Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W, van der Helm, R, Sistermans, E, Voorhoeve, E, Bhola, S, Hoffer, M, den Hollander, N, Macville, M & Van Opstal, D 2022, ' NIPD for translocation carriers-yes please or no go? ', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 105-105 .
European Journal of Human Genetics, 30(SUPPL 1), 105-105. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::af3369cff96b076d2577df0d3ec189ea
https://research.vumc.nl/en/publications/75d17845-5e43-4e5d-8116-e6493d173d6b

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Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

Autor: Bhola Shama L, Creemers Johan, Go Attie, Hoffer Mariëtte VJ, Huijsdens Karin, Kooper Angelique JA, Macville Merryn VE, Nijhuis Jan G, van Oppen Carla AC, Oepkes Dick, Schuring-Blom Heleen G, Wildschut Hajo I, Birnie Erwin, Boormans Elisabeth MA, Bilardo Katia M, Suijkerbuijk Ron, Bouman Katelijne, Galjaard Robert-Jan H, Bonsel Gouke J, van Lith Jan MM

Publikováno v: BMC Pregnancy and Childbirth, Vol 8, Iss 1, p 18 (2008)

Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor intensive, the results

Externí odkaz: https://doaj.org/article/80c9712e3c424858b9c6b80a54bc59f0