Zobrazeno 1 - 10
of 46
pro vyhledávání: '"MESH : Prenatal Diagnosis"'
Autor:
Jean-Marie Jouannic, Clément Ferrier, Babak Khoshnood, Ferdinand Dhombres, Isabelle Durand-Zaleski, Isabelle Perthus, Hanitra Randrianaivo
Publikováno v:
BMJ Open
BMJ Open, 2020, 10 (7), pp.e036566. ⟨10.1136/bmjopen-2019-036566⟩
BMJ Open, Vol 10, Iss 7 (2020)
BMJ Open, BMJ Publishing Group, 2020, 10 (7), pp.e036566. ⟨10.1136/bmjopen-2019-036566⟩
BMJ Open, 2020, 10 (7), pp.e036566. ⟨10.1136/bmjopen-2019-036566⟩
BMJ Open, Vol 10, Iss 7 (2020)
BMJ Open, BMJ Publishing Group, 2020, 10 (7), pp.e036566. ⟨10.1136/bmjopen-2019-036566⟩
ObjectiveTo assess trends in the average costs and effectiveness of the French ultrasound screening programme for birth defects.DesignA population-based study.SettingNational Public Health Insurance claim database.ParticipantsAll pregnant women in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5613b4f6a1e80508d1655cf8f99b91a9
https://pubmed.ncbi.nlm.nih.gov/32690745
https://pubmed.ncbi.nlm.nih.gov/32690745
Autor:
Cyril Goizet, Patrick Calvas, Marie-Claire Vincent, Claire Guissart, Virginie Dorian, Nicolas Molinari, Caroline Rooryck-Thambo, Cathy Liautard-Haag, Annabelle Chaussenot, Romain Favre, Catherine Alix-Panabières, Sandra Pierredon, Laetitia Monteil, Philippe Khau Van Kien, Mélanie Fradin, Amandine Boureau-Wirth, Marion Imbert-Bouteille, Emmanuelle Haquet, Elsa Le Boette, Yuliya Petrov, Jacques Puechberty, Cécile Zordan, Céline Moutou, Laure Cayrefourcq, Cécile Rouzier, Marjolaine Willems, Claire Miry
Publikováno v:
Scientific Reports
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebe4f6b46e24a815ff56ed8a16e2bd2
http://europepmc.org/articles/PMC7300110
http://europepmc.org/articles/PMC7300110
Autor:
Le Conte, Grégoire
Publikováno v:
Médecine humaine et pathologie. 2018
Objectives: to evaluate the performance of noninvasive prenatal testing by cell-free circulating fetal DNA in maternal blood (cfDNA) in screening for trisomies 21 in twin pregnancies. Methods: cfDNA was performed in 492 patients with twin pregnancies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2592::e3cc2182dea766e96ac94081b510e658
https://dumas.ccsd.cnrs.fr/dumas-02292929
https://dumas.ccsd.cnrs.fr/dumas-02292929
Autor:
Denis, Jérôme Alexandre, Nectoux, Juliette, Lamy, Pierre-Jean, Rouillac Le Sciellour, Christelle, Guermouche, Hélène, Alary, Anne-Sophie, Kosmider, Olivier, Sarafan-Vasseur, Nasrin, Jovelet, Cécile, Busser, Benoit, Nizard, Philippe, Taly, Valérie, Fina, Frédéric
Publikováno v:
Ann. Biol. Clin. (Paris).
Ann. Biol. Clin. (Paris)., 2018
Annales de Biologie Clinique
Annales de Biologie Clinique, 2018, 76 (5), pp.505-523. ⟨10.1684/abc.2018.1372⟩
Annales de Biologie Clinique, John Libbey Eurotext, 2018, 76 (5), pp.505-523. ⟨10.1684/abc.2018.1372⟩
Ann. Biol. Clin. (Paris)., 2018
Annales de Biologie Clinique
Annales de Biologie Clinique, 2018, 76 (5), pp.505-523. ⟨10.1684/abc.2018.1372⟩
Annales de Biologie Clinique, John Libbey Eurotext, 2018, 76 (5), pp.505-523. ⟨10.1684/abc.2018.1372⟩
International audience; Digital PCR (dPCR) is a 3rd generation technology that complements traditional end-point PCR and real-time PCR. It was developed to overcome certain limitations of conventional amplification techniques, in particular for the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6bb323e185253ab442eb3918b5054347
https://www.hal.inserm.fr/inserm-02299496
https://www.hal.inserm.fr/inserm-02299496
Autor:
Khoshnood, B., Greenlees, R., Loane, M., Dolk, H., EUROCAT Project Management Committee, EUROCAT Working Group, Barišić, Ingeborg
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology
Birth Defects Research Part A: Clinical and Molecular Teratology, Wiley, 2011, 91 Suppl 1, pp.S16-22. ⟨10.1002/bdra.20776⟩
Birth Defects Research Part A: Clinical and Molecular Teratology, 2011, 91 Suppl 1, pp.S16-22. ⟨10.1002/bdra.20776⟩
Birth Defects Research Part A: Clinical and Molecular Teratology, Wiley, 2011, 91 Suppl 1, pp.S16-22. 〈10.1002/bdra.20776〉
Birth Defects Research Part A: Clinical and Molecular Teratology, Wiley, 2011, 91 Suppl 1, pp.S16-22. ⟨10.1002/bdra.20776⟩
Birth Defects Research Part A: Clinical and Molecular Teratology, 2011, 91 Suppl 1, pp.S16-22. ⟨10.1002/bdra.20776⟩
Birth Defects Research Part A: Clinical and Molecular Teratology, Wiley, 2011, 91 Suppl 1, pp.S16-22. 〈10.1002/bdra.20776〉
OBJECTIVE The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHOD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b83b7fb1d0df270438cb7964ea5a5fe
https://doi.org/10.1002/bdra.20776
https://doi.org/10.1002/bdra.20776
Autor:
Longlet, Laura
Publikováno v:
Gynécologie et obstétrique. 2017
The discovery of an ultrasonographic presenting sign during the first trimester of pregnancy modify all the adaptive psychic process that the futures parents try to find out. Indeed, the announcement of a increased nuchal translucency appears early d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c5a6a129ab112688a2e6cdc851bb62f
https://dumas.ccsd.cnrs.fr/dumas-01586367/document
https://dumas.ccsd.cnrs.fr/dumas-01586367/document
Autor:
Briere, Ariane
Publikováno v:
Gynécologie et obstétrique. 2017
Introduction: ultrasound of the cervix in cases of suspected premature delivery is now common practice in obstetrics. This tool allows the detection of anomalies in cervical length. Thus, leading to the preventive care of the women based on the resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::78d25f44b1b5b369b657965bf3a2b826
https://dumas.ccsd.cnrs.fr/dumas-01584414/document
https://dumas.ccsd.cnrs.fr/dumas-01584414/document
Autor:
Isabelle Aerts, Marion Gauthier-Villars, Catherine Dehainault, Lisa Golmard, Julien Tarabeux, Dominique Stoppa-Lyonnet, Nathalie Cassoux, Gaël A Millot, Claude Houdayer, Agathe Charpin, Anthony Laugé
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
European Journal of Human Genetics, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
European Journal of Human Genetics, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
International audience; In sporadic cases, a post-zygotic mutational event signifies a somatic mosaicism in the affected child only, which implies that these mutations affect only a portion of the body. Therefore siblings do not need follow-up. On th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bfa59d7772742c0907ce9b2f971b0cb
https://hal-pasteur.archives-ouvertes.fr/pasteur-03105162
https://hal-pasteur.archives-ouvertes.fr/pasteur-03105162
Autor:
Annick Tijou Traoré, Hermann Brou, Annabel Desgrées-du-Loû, Gérard Djohan, Valériane Leroy, Renaud Becquet
Publikováno v:
Social Science and Medicine
Social Science and Medicine, 2009, 69 (6), pp.892-9. ⟨10.1016/j.socscimed.2009.05.045⟩
Social Science and Medicine, Elsevier, 2009, 69 (6), pp.892-9. ⟨10.1016/j.socscimed.2009.05.045⟩
Working Paper du Ceped #01, Centre Population et Développement. 2009, pp.20
Social Science and Medicine, Elsevier, 2009, 69 (6), pp.892-9. 〈10.1016/j.socscimed.2009.05.045〉
Social Science and Medicine, 2009, 69 (6), pp.892-9. ⟨10.1016/j.socscimed.2009.05.045⟩
Social Science and Medicine, Elsevier, 2009, 69 (6), pp.892-9. ⟨10.1016/j.socscimed.2009.05.045⟩
Working Paper du Ceped #01, Centre Population et Développement. 2009, pp.20
Social Science and Medicine, Elsevier, 2009, 69 (6), pp.892-9. 〈10.1016/j.socscimed.2009.05.045〉
International audience; The first step in preventing mother-to-child HIV transmission (PMTCT) programmes is offering HIV counselling and testing to pregnant women. In developing countries where HIV testing remains rare, it represents a unique opportu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3220c172d75f073bd2772213fb5620fe
https://doi.org/10.1016/j.socscimed.2009.05.045
https://doi.org/10.1016/j.socscimed.2009.05.045
Autor:
Frédéric Bibeau, L. Roca, Evelyne Crapez, Hélène de Forges, Julie Courraud, Marc Ychou, Jacqueline Duffour, Florence Boissière-Michot, Audrey Combes, Pierre Senesse
Publikováno v:
Journal of Genetic Counseling
Journal of Genetic Counseling, Springer Verlag, 2016, 25 (3), pp.432-442. ⟨10.1007/s10897-015-9888-7⟩
Journal of Genetic Counseling, Springer Verlag, 2016, 25 (3), pp.432-442. ⟨10.1007/s10897-015-9888-7⟩
International audience; Reproductive techniques such as prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD), although debated, are legally forbidden in France in case of Lynch syndrome. The preference of mutation carriers about their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e3858ac161d8a5e606b59761b793b40
https://hal.umontpellier.fr/hal-02295670
https://hal.umontpellier.fr/hal-02295670