Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Prenatal Diagnosis - methods"'
Autor:
Zrinka Kruhonja Galić, Mirela Raos, Bojana Bošnjak, Slavica Dajak, Linda Caser, Jasna Bingulac-Popović, Ana Hećimović, Sandra Jagnjić, Vesna Đogić, Irena Jukić
Publikováno v:
Liječnički vjesnik, Vol 144, Iss 5-6, Pp 125-133 (2022)
The working group of the Croatian Society for Transfusion Medicine has prepared guidelines for the determination of Rh (D) blood group and the application of RhD genotyping. The guidelines describe clinical significance of D antigen, history and lim
Externí odkaz:
https://doaj.org/article/793e2f6aa59344ee85062341a4d26d54
Autor:
Schuurman, L.V., Sistermans, E.A., Opstal, D. van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, K., Munnik, S. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A.T.J.I., Hoffer, M.J.V., Joosten, M., Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M.F.C.M., Macville, M.V.E., Galjaard, R.J.H., Dutch NIPT Consortium
Publikováno v:
American journal of human genetics, 109(6), 1140-1152. Cell Press
American Journal of Human Genetics, 109(6), 1140-1152. CELL PRESS
American Journal of Human Genetics, 109, 6, pp. 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. Cell Press
Dutch NIPT Consortium 2022, ' Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing : Follow-up results of the TRIDENT-2 study ', American journal of human genetics, vol. 109, no. 6, pp. 1140-1152 . https://doi.org/10.1016/j.ajhg.2022.04.018
American Journal of Human Genetics, 109(7). Cell Press
American Journal of Human Genetics, 109, 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. CELL PRESS
American Journal of Human Genetics, 109, 6, pp. 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. Cell Press
Dutch NIPT Consortium 2022, ' Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing : Follow-up results of the TRIDENT-2 study ', American journal of human genetics, vol. 109, no. 6, pp. 1140-1152 . https://doi.org/10.1016/j.ajhg.2022.04.018
American Journal of Human Genetics, 109(7). Cell Press
American Journal of Human Genetics, 109, 1140-1152
Contains fulltext : 251979.pdf (Publisher’s version ) (Open Access) In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f185a21074eaaeaf5f9da3fa138556
https://doi.org/10.1016/j.ajhg.2022.04.018
https://doi.org/10.1016/j.ajhg.2022.04.018
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
https://pure.au.dk/ws/files/300096563/Is_the_first_trimester_combined_screening_result_associated_with_the_phenotype_of_Down_syndrome.pdf
Autor:
Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel
Publikováno v:
Jeppesen, L D, Lildballe, D L, Hatt, L, Hedegaard, J, Singh, R, Toft, C L F, Schelde, P, Pedersen, A S, Knudsen, M & Vogel, I 2023, ' Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts : Detection of the 50 most common disease-causing variants ', Prenatal Diagnosis, vol. 43, no. 1, pp. 3-13 . https://doi.org/10.1002/pd.6276
OBJECTIVES: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c69e4474a5ec00a55d1968248f3fff
https://vbn.aau.dk/ws/files/510206222/Jeppesen_et_al_2023_Noninvasive_prenatal_screening_for_cystic_fibrosis_using_circulating_trophoblasts.pdf
https://vbn.aau.dk/ws/files/510206222/Jeppesen_et_al_2023_Noninvasive_prenatal_screening_for_cystic_fibrosis_using_circulating_trophoblasts.pdf
Autor:
Anouk S Moerdijk, Nathalie HP Claessens, Inge M van Ooijen, Pim van Ooij, Thomas Alderliesten, Heynric B Grotenhuis, MN Bekker, MJNL Benders, AE Bohte, JMPJ Breur, D Charisopoulou, S-A Clur, JMJ Cornette, Z Fejzic, MTM Franssen, S Frerich, LM Geerdink, ATJI Go, S Gommers, WA Helbing, A Hirsch, RJ Holtackers, WM Klein, GJ Krings, HJ Lamb, M Nijman, E Pajkrt, RN Planken, EM Schrauben, TJ Steenhuis, H ter Heide, WYR Vanagt, IM van Beynum, MD van Gaalen, GG van Iperen, J van Schuppen, TP Willems, I Witters
Publikováno v:
The Lancet Child & Adolescent Health, 7, 1, pp. 59-68
FUTURE 2.0 consortium 2023, ' Fetal MRI of the heart and brain in congenital heart disease ', The Lancet Child and Adolescent Health, vol. 7, no. 1, pp. 59-68 . https://doi.org/10.1016/S2352-4642(22)00249-8
The Lancet Child & Adolescent Health, 7, 59-68
FUTURE 2.0 consortium 2023, ' Fetal MRI of the heart and brain in congenital heart disease ', The Lancet Child and Adolescent Health, vol. 7, no. 1, pp. 59-68 . https://doi.org/10.1016/S2352-4642(22)00249-8
The Lancet Child & Adolescent Health, 7, 59-68
Item does not contain fulltext Antenatal assessment of congenital heart disease and associated anomalies by ultrasound has improved perinatal care. Fetal cardiovascular MRI and fetal brain MRI are rapidly evolving for fetal diagnostic testing of cong
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7732cea40b5a5d7bd482caf9eb066b8
https://pubmed.ncbi.nlm.nih.gov/36343660
https://pubmed.ncbi.nlm.nih.gov/36343660
Autor:
Tatjana Jatsenko, Charlotte Maggen, Giuseppe Floris, Patrick Neven, Luc Dehaspe, Nathalie Brison, Anca Croitor, Darine Villela, Hanne Lefrère, Sigrid Hatse, Joris Vermeesch, Vincent Vandecaveye, Hans Wildiers, Magali Verheecke, Liesbeth Lenaerts, Maria Neofytou, Huiwen Che, Frédéric Amant
Publikováno v:
Clinical chemistry, 66(11), 1414-1423. American Association for Clinical Chemistry Inc.
Background Numerous publications have reported the incidental detection of occult malignancies upon routine noninvasive prenatal testing (NIPT). However, these studies were not designed to evaluate the NIPT performance for cancer detection. Methods W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e8c4cd78a5cd849feb8fd2c1a8650e2
https://doi.org/10.1093/clinchem/hvaa196
https://doi.org/10.1093/clinchem/hvaa196
Autor:
Martin, Linda, Gitsels-Van der Wal, Janneke T., Bax, Caroline J., Pieters, Mijntje J., Reijerink-Verheij, Jacqueline C.I.Y., Galjaard, Robert Jan, Henneman, Lidewij
Publikováno v:
Dutch NIPT Consortium 2022, ' Nationwide implementation of the noninvasive prenatal test : Evaluation of a blended learning program for counselors ', PLoS ONE, vol. 17, no. 5 May, e0267865 . https://doi.org/10.1371/journal.pone.0267865
PLoS ONE, 17(5 May):e0267865. Public Library of Science
PLOS ONE, 17(5):0267865. Public Library of Science
PLoS ONE, 17(5 May):e0267865. Public Library of Science
PLOS ONE, 17(5):0267865. Public Library of Science
This study assesses the results of a mandatory blended learning-program for counselors (e.g. midwives, sonographers, obstetricians) guiding national implementation of the Non-Invasive Prenatal Test (NIPT). We assessed counselors’ 1) knowledge about
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d51a4be29a1effae5761cffafdc5e9a3
https://doi.org/10.1371/journal.pone.0267865
https://doi.org/10.1371/journal.pone.0267865
Autor:
Ziza, Karen Nogueira Chinoca
INTRODUÇÃO: A determinação do genótipo RHD fetal no plasma materno é um teste de diagnóstico pré-natal não invasivo oferecido a gestantes RhD negativo que apresentam potencial de sensibilização e/ou Doença Hemolítica Perinatal. Atualment
Autor:
D. A. A. van der Woude, N. H. M. van Oostrum, C. M. de Vet, Marion W.E. Frenken, J. O. E. H. van Laar, M. van der Ven, B. G. van Willigen, T. J. Nichting, S.G. Oei
Publikováno v:
BMC Pregnancy and Childbirth
BMC PREGNANCY AND CHILDBIRTH
BMC Pregnancy and Childbirth, 21(1):791. BioMed Central
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-11 (2021)
BMC PREGNANCY AND CHILDBIRTH
BMC Pregnancy and Childbirth, 21(1):791. BioMed Central
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-11 (2021)
Background Worldwide, hypertensive disorders of pregnancy (HDP), fetal growth restriction (FGR) and preterm birth remain the leading causes of maternal and fetal pregnancy-related mortality and (long-term) morbidity. Fetal cardiac deformation changes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bddb50c3f28dc660cfa55c71acf66cec
http://europepmc.org/articles/PMC8613985
http://europepmc.org/articles/PMC8613985
Autor:
Alegre Coll, Arian
Publikováno v:
Repositorio Abierto de la UdL
Universitad de Lleida
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Universitad de Lleida
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
CONTEXT. La Infermera de Pràctica Avançada és una figura que avança de manera diferent en cada país. Actualment encara falta estudiar sobre quin paper i quines funcions pot realitzar dins del cribratge precoç prenatal. OBJECTIU. Descriure quine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::711d6e87e036b16d394addbe7da5f7bf
https://hdl.handle.net/10459.1/70591
https://hdl.handle.net/10459.1/70591