Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis.

Autor: Findlay I; Institute of Pathology, Leeds University, UK., Tóth T, Matthews P, Marton T, Quirke P, Papp Z

Publikováno v: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 1998 May; Vol. 15 (5), pp. 266-75.

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

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

Autor: Erkut Öztürk, Ender Ödemiş, Neslihan Kıplapınar

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://doaj.org/article/b0a32a1a6e744f1fb58b4430f33ea5ac

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THE PROPER CATHOLIC AND PRO-LIFE RESPONSE TO LIFE LIMITING ANOMALIES: MOVING BEYOND PERINATAL HOSPICE.

Autor: McCaffrey, Martin J.¹

Publikováno v: Ethics & Medics. Dec2024, Vol. 49 Issue 12, p1-4. 4p.