How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations?:A clinical study from Denmark

Autor: Lotte Hatt, Katarina Ravn, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Inga Baasch Christensen, Ripudaman Singh, Palle Schelde, Simon Horsholt Thomsen, Rikke Christensen, Marianne Sinding, Laura Vase, Marianne Oestergaard, Marie Bender Ruggard, Hanne S. Jensen, Helle Mogensen, Niels Uldbjerg, Naja Becher, Sara Markholt, Puk Sandager, Lars Henning Pedersen, Ida Vogel

Publikováno v: Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark ', Prenatal Diagnosis, vol. 43, no. 7, pp. 854-864 . https://doi.org/10.1002/pd.6387
Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark ', Prenatal Diagnosis . https://doi.org/10.1002/pd.6387

ObjectivesWe aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).Material and MethodsStudy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019b06e0e878e82bce141d7fdef2abbf
https://pure.au.dk/portal/da/publications/how-does-cellbased-noninvasive-prenatal-test-nipt-perform-against-chorionic-villus-sampling-and-cellfree-nipt-in-detecting-trisomies-and-copy-number-variations(78d72510-337f-49de-ab1a-b5099380614c).html

Absence of an anatomical origin for altered ductus venosus flow velocity waveforms in first-trimester human fetuses with increased nuchal translucency

Publikováno v: Prenatal diagnosis. 36(6):537-544

To perform a morphological evaluation of the ductus venosus, heart and jugular lymphatic sac (JLS) in first-trimester human fetuses with normal and abnormal ductus venosus flow velocity waveforms (DV-FVWs) and normal and increased nuchal translucency

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::ed21786972dcd6a2939b9242b020fb00
https://doi.org/10.1002/pd.4820

Absence of an anatomical origin for altered ductus venosus flow velocity waveforms in first-trimester human fetuses with increased nuchal translucency

Autor: Burger, Nicole B., Matias, Alexandra, Kok, Evelien, de Groot, Christianne J M, Christoffels, Vincent M., Bekker, Mireille N., Haak, Monique C.

Publikováno v: Burger, N B, Matias, A, Kok, E, de Groot, C J M, Christoffels, V M, Bekker, M N & Haak, M C 2016, ' Absence of an anatomical origin for altered ductus venosus flow velocity waveforms in first-trimester human fetuses with increased nuchal translucency ', Prenatal Diagnosis, vol. 36, no. 6, pp. 537-544 . https://doi.org/10.1002/pd.4820
Prenatal Diagnosis, 36(6), 537-544. John Wiley and Sons Ltd
Prenatal diagnosis, 36(6), 537-544. John Wiley and Sons Ltd
Prenatal Diagnosis, 36(6), 537. John Wiley and Sons Ltd

Objective: To perform a morphological evaluation of the ductus venosus, heart and jugular lymphatic sac (JLS) in first-trimester human fetuses with normal and abnormal ductus venosus flow velocity waveforms (DV-FVWs) and normal and increased nuchal t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::69930caa46cbf861b575d51c666b0ecc
https://research.vumc.nl/en/publications/62504c0b-5bbc-4355-9035-6e276f03f389

Percutaneous right ventricle outflow tract stenting in a patient with trisomy 18 associated with double outlet right ventricle

Autor: Neslihan Kiplapinar, Ender Odemis, Erkut Öztürk

Publikováno v: Türk Kardiyoloji Derneği Arşivi, Vol 41, Iss 5, Pp 433-435 (2013)

Trisomy 18, or Edwards syndrome, is the second most common chromosome anomaly after trisomy 21. Various types of congenital heart diseases are seen in the majority of trisomy 18 patients. Palliative treatment of right ventricular outflow tract (RVOT)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48d62e9de52581e69ce925c3f774f9e6
https://pubmed.ncbi.nlm.nih.gov/23917009

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Autor: Sidney K. C. Au-Yeung, Ranjit Akolekar, Ryoko Minekawa, Kypros H. Nicolaides, Yu Y. Kung, Yama W. L. Zheng, Cees B.M. Oudejans, Mary Hoi Yin Tang, Attie T. J. I. Go, John M. G. van Vugt, Rebecca Y. K. Tang, Fiona M.F. Lun, K.C. Allen Chan, Lisa Y.S. Chan, Eric Z. Chen, Peiyong Jiang, Tak Yeung Leung, Rossa W.K. Chiu, Xiuqing Zhang, Y.M. Dennis Lo, Hao Sun, W. C. Leung, William W. K. To, H. Lam, Yongjie Jin, Tze K. Lau, Jun Wang, Elizabeth T. Lau

Publikováno v: Chen, E Z, Chiu, R W K, Sun, H, Akolekar, R, Chan, K C A, Leung, T Y, Jiang, P Y, Zheng, Y W L, Lun, F M F, Chan, L Y S, Jin, Y J, Go, A T J I, Lau, E T, To, W W K, Leung, W C, Tang, R Y K, Au-Yeung, S K C, Lam, H, Kung, Y Y, Zhang, X Q, van Vugt, J M G, Minekawa, R, Tang, M H Y, Wang, J, Oudejans, C B M, Lau, T K, Nicolaides, K H & Lo, Y M D 2011, ' Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing ', PLoS ONE, vol. 6, no. 7, e21791 . https://doi.org/10.1371/journal.pone.0021791
PLoS ONE
PLoS ONE, 6(7):e21791. Public Library of Science
PLoS One, 6
PLoS ONE, Vol 6, Iss 7, p e21791 (2011)
PLoS One, 6, 7

Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1367bab05a0af2574c128e9c13e8c412
https://research.vumc.nl/ws/files/866060/282572.pdf