
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. In the meantime, sequential use offers a practical approach.

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. 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. For example, the nuchal translucency is not just increased (>3 mm) in fetal aneuploidies such as Down syndrome and Turner's syndrome (45 XO) but is also increased in fetal cardiac malformations: more than 55. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. The value of a nuchal translucency test between 11-13 weeks is that it will give additional information not available with an NIPT test.Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.
