Zobrazeno 1 - 10 of 35 pro vyhledávání: '"Down Syndrome/diagnosis"'
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Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study
Autor: Stina Lou, Lars Henning Pedersen, Ida Vogel, Ellen Steffensen
Publikováno v: Steffensen, E H, Pedersen, L H, Lou, S & Vogel, I 2023, ' Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study ', Prenatal Diagnosis, vol. 43, no. 1, pp. 51-61 . https://doi.org/10.1002/pd.6284
Objective: To investigate if the Down syndrome phenotype differs according to the result of first-trimester combined screening (FTS). Method: We included all Down syndrome cases diagnosed by karyotype in pregnancy or after birth in Denmark during 200
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db567e614bd7a8d84eafe651692538cc
https://pure.au.dk/ws/files/300096563/Is_the_first_trimester_combined_screening_result_associated_with_the_phenotype_of_Down_syndrome.pdf
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Zoeken naar ‘nevenbevindingen’?
Publikováno v: Nederlands Tijdschrift voor Geneeskunde. 166
In a research setting (TRIDENT-2), Dutch pregnant women undergoing prenatal screening for trisomies 21, 18 and 13 with the Non-Invasive Prenatal Test (NIPT), are offered the choice to also receive information about incidental findings. In a recent re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::6176245a41332f5966a1587f6ddb8c2f
https://www.ntvg.nl/artikelen/zoeken-naar-nevenbevindingen
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Zoeken naar ‘nevenbevindingen’?: Uitbreiding NIPT moet zorgvuldiger
Autor: Dondorp, Wybo J, de Wert, Guido M W R, Ploem, Corrette M C
Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 166:D6802. Bohn Stafleu van Loghum
In a research setting (TRIDENT-2), Dutch pregnant women undergoing prenatal screening for trisomies 21, 18 and 13 with the Non-Invasive Prenatal Test (NIPT), are offered the choice to also receive information about incidental findings. In a recent re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::906d37efab799b11c5aa5baf766fde21
https://cris.maastrichtuniversity.nl/en/publications/c3fab7b4-09b5-482e-8560-6b40f395437a
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5
Family Sense-Making After a Down Syndrome Diagnosis
Autor: Rebekah Perkins, Ruth Tadesse, Avery E. Holton, Lauren Clark, Heather E. Canary, Kyle McDougle
Publikováno v: Qual Health Res
Qualitative health research, vol 30, iss 12
The script of parenting shifts when parents learn of their child’s Down syndrome diagnosis. To build a theory of the diagnostic experience and early family sense-making process, we interviewed 33 parents and nine grandparents living in the United S
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131526c8b704fc9a116e6731ab5632e5
https://doi.org/10.1177/1049732320935836
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DA MATERNIDADE AO DIAGNÓSTICO DE UM FILHO(A) COM SÍNDROME DE DOWN: PRODUÇÃO DE DOCUMENTÁRIO SOBRE A COMUNICAÇÃO DA NOTÍCIA
Autor: Lunardi, Rosani Viera
Publikováno v: Repositório Institucional Universidade Franciscana
Universidade Franciscana (UFN)
instacron:UFN
Submitted by MARCIA ROVADOSCHI (marciar@unifra.br) on 2021-06-24T14:18:36Z No. of bitstreams: 3 Dissertacao_RosaniVieraLunardi.pdf: 2041584 bytes, checksum: 345bad08862a2bd86ba0d93d8f01bd3e (MD5) ProdutoTecnico_RosaniVieraLunardi.pdf: 2491550 bytes,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::36270e6465b48f15eab590777ef98e1a
http://www.tede.universidadefranciscana.edu.br:8080/handle/UFN-BDTD/988
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Trisomi 21 – insidens, diagnostikk og svangerskapsavbrud 2018
Autor: Aasen, Hege Merete, Solberg, Berge, Stangenes, Kristine Marie, Nøhr, Ellen Aagaard, Eggebø, Torbjørn Moe
Publikováno v: Tidsskrift for Den norske legeforening
Aasen, H M, Solberg, B, Stangenes, K M, Nøhr, E A & Eggebø, T M 2021, ' Trisomi 21 – insidens, diagnostikk og svangerskapsavbrud 2018 ', Tidsskrift for den Norske laegeforening, bind 141, nr. 18 . https://doi.org/10.4045/tidsskr.21.0221
Bakgrunn: Vi hadde som hypotese at gravide som blir undersøkt ved fostermedisinske sentre, får et annet tilbud enn gravide i resten av landet. Derfor ønsket vi å undersøke utviklingen i insidens, prenatal diagnostikk og svangerskapsavbrudd ved t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e1bd55a96eec6273a54dfebd25ad1728
https://hdl.handle.net/11250/2996590
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TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
Autor: Meij, K.R.M. van der, Sistermans, E.A., Macville, M.V.E., Stevens, S.J.C., Bax, C.J., Bekker, M.N., Bilardo, C.M., Boon, E.M.J., Boter, M., Diderich, K.E.M., Die-Smulders, C.E.M. de, Duin, L.K., Faas, B.H.W., Feenstra, I., Haak, M.C., Hoffer, M.J.V., Hollander, N.S. den, Hollink, I.H.I.M., Jehee, F.S., Knapen, M.F.C.M., Kooper, A.J.A., Langen, I.M. van, Lichtenbelt, K.D., Linskens, I.H., Maarle, M.C. van, Oepkes, D., Pieters, M.J., Schuring-Blom, G.H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D.F.C.M., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Ven, A.J.E.M. van der, Zelderen-Bhola, S.L. van, Henneman, L., Galjaard, R.J.H., Opstal, D. van, Weiss, M.M., Dutch NIPT Consortium
Publikováno v: American Journal of Human Genetics, 105(6), 1091-1101. CELL PRESS
American Journal of Human Genetics, 105, 6, pp. 1091-1101
American journal of human genetics, 105(6), 1091-1101. Cell Press
American Journal of Human Genetics, 105, 1091-1101
Am J Hum Genet
American Journal of Human Genetics, 105(6), 1091. Cell Press
American Journal of Human Genetics, 105(6), 1091-1101. Cell Press
van der Meij, K R M, Sistermans, E A, Macville, M V E, Stevens, S J C, Bax, C J, Bekker, M N, Bilardo, C M, Boon, E M J, Boter, M, Diderich, K E M, de Die-Smulders, C E M, Duin, L K, Faas, B H W, Feenstra, I, Haak, M C, Hoffer, M J V, den Hollander, N S, Hollink, I H I M, Jehee, F S, Knapen, M F C M, Kooper, A J A, van Langen, I M, Lichtenbelt, K D, Linskens, I H, van Maarle, M C, Oepkes, D, Pieters, M J, Schuring-Blom, G H, Sikkel, E, Sikkema-Raddatz, B, Smeets, D F C M, Srebniak, M I, Suijkerbuijk, R F, Tan-Sindhunata, G M, van der Ven, A J E M, van Zelderen-Bhola, S L, Henneman, L, Galjaard, R J H, Van Opstal, D, Weiss, M M & The Dutch NIPT Consortium 2019, ' TRIDENT-2 : National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands ', American journal of human genetics, vol. 105, no. 6, pp. 1091-1101 . https://doi.org/10.1016/j.ajhg.2019.10.005
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45f1a4d1a35934f9843790dea681e84
https://research.rug.nl/en/publications/d271c078-0838-49e9-b013-1c599c10dfd3
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Elektronická kniha
Choosing Down Syndrome : Ethics and New Prenatal Testing Technologies
Autor: Chris Kaposy
An argument that more people should have children with Down syndrome, written from a pro-choice, disability-positive perspective.The rate at which parents choose to terminate a pregnancy when prenatal tests indicate that the fetus has Down syndrome i
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Akademický článek
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