Performance of Semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidies: results from a multicenter prospective cohort study in a clinical setting.
Fiche publication
Date publication
septembre 2018
Journal
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BONNET Céline
Tous les auteurs :
El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C, , Cormier A, Duboc V, Pipoli JDF, Bonnet C, Lagarde A, Letourneur F, Jonveaux P, Bardel C, Paquis-Fluckinger V, Bannwarth S, Arveiler B, Badens C, Levy N, Goossens M, Vidaud M, Massardier J, Boureau-Wirth A, Saliou AH, Lacombe D, Sanlaville D, Ferec C
Lien Pubmed
Résumé
To validate and evaluate an integrated protocol for non-invasive prenatal genetic screening (NIPS) for common fetal aneuploidies in a clinical setting, using the semiconductor sequencing technology, Ion Proton.
Mots clés
cell free fetal DNA, fetal fraction, prenatal diagnosis, semiconductor sequencing, trisomy
Référence
Ultrasound Obstet Gynecol. 2018 Sep 6;: