Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. The First Trimester Screen is performed between the 11th and 13th week of pregnancy.
Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. CARE Study Group: DNA sequencing versus standard prenatal aneuploidy screening. Bianchi DW, Parker RL, Wentworth J, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Combination of conventional screening and fetal cell analysis therefore also offers opportunities to maximize screening efficacy while managing cost. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, Zheng YW, Lun FM, Chan LY, Jin Y, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. 
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. With sequential screening, a first report is produced after the first trimester sample has been submitted, and a final report after the second sample.Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.
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