References
[1] Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in ma- ternal plasma and serum. Lancet 1997;350(9076):485–7.
[2] Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet1998;62(4):768-75.
[3] Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999;64(1):218–24.
[4] Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 2004;50(1):88–92.
[5] Costa JM, Benachi A, Gautier E. New strategy for prenatal diagnosis of X-linked disorders. N Engl J Med2002;346(19):1502.
[6] Faas BH, Beuling EA, Christiaens GC, von dem Borne AE, van der Schoot CE. Detection of fetal RHD- specific sequences in maternal plasma. Lancet 1998;352(9135):1196.
[7] Lo YM, Hjelm NM, Fidler C, Sargent IL, Murphy MF, Chamberlain PF, et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med 1998;339(24):1734–8.
[8] Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002;360(9338):998–1000.
[9] New MI, Tong YK, Yuen T, Jiang P, Pina C, Chan KC, et al. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 2014;99(6):E1022-30.
[10] Hui WW, Jiang P, Tong YK, Lee WS, Cheng YK, New MI, et al. Universal haplotype-based noninvasive prenatal testing for single gene diseases. Clin Chem 2017;63(2):513–24.
[11] Barrett AN, McDonnell TC, Chan KC, Chitty LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem 2012;58(6):1026–32.
[12] Tsui NB, Kadir RA, Chan KC, Chi C, Mellars G, Tuddenham EG, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011;117(13):3684-91.
[13] Hudecova I, Jiang P, Davies J, Lo YMD, Kadir RA, Chiu RWK. Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers. Blood 2017;130(3):340-7.
[14] Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008;105(51):20458-63.
[15] Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008;105(42):16266–71.
[16] Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
[17] Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequenc- ing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med2011;13(11):913-20.
[18] Srinivasan A, Bianchi DW, Huang H, Sehner t AJ, Rava RP. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013;92(2):167–76.
[19] Yu SC, Jiang P, Choy KW, Chan KC, Won HS, Leung WC, et al. Noninvasive prenatal molecular karyotyp- ing from maternal plasma. PLoS One 2013;8(4):e60968.
[20] Lo YMD, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, et al. Maternal plasma DNA sequencing reveals the genome-wide Genetic and mutational profile of the fetus. Sci Transl Med 2010;2(61):61ra91.
[21] Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012;4(137):137ra176.
[22] Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR. Non-invasive prenatal measurement of the fetal genome. Nature 2012;487(7407):320-4.
[23] Chan KC, Jiang P, Sun K, Cheng YK, Tong YK, Cheng SH, et al. Second generation noninvasive fetal ge- no me analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. Proc Natl Acad Sci USA 2016;113(50):E8159–68.
[24] Snyder MW, Kircher M, Hill AJ, Daza RM, Shendure J. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin. Cell 2016;164(1-2):57-68.
[25] Straver R, Oudejans CB, Sistermans EA, Reinders MJ. Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles. Prenat Diagn 2016;36(7):614–21.
[26] Sun K, Jiang P, Chan KC, Wong J, Cheng YK, Liang RH, et al. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments. Proc Natl Acad Sci USA 2015;112(40):E5503-12.
[27] Guo S, Diep D, Plongthongkum N, Fung HL, Zhang K. Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA. Nat Genet 2017;49(4):635-42.
Noninvasive Prenatal Testing (NIPT). https://doi.org/10.1016/B978-0-12-814189-2.00001-3 3 ©2018 Elsevier Inc. All rights reserved.