| [1] |
Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum[J]. Lancet, 1997, 350(9076):485-487.
|
| [2] |
边旭明，蒋宇林，戚庆炜. 产前诊断，走中国自己的道路[J]. 中华妇产科杂志，2012, 47(11):801-803.
|
| [3] |
Evans MI, Kilpatrick M. Noninvasive prenatal diagnosis: 2010[J]. Clinics in Laboratory Medicine, 2010, 30(3):655-665.
|
| [4] |
张磊，王威. 无创产前基因检测胎儿染色体非整倍体技术研究及应用进展[J/CD]. 中国产前诊断杂志：电子版，2012, 4(3):32-40.
|
| [5] |
Litton C, Stone J, Eddleman K, et al. Noninvasive prenatal diagnosis: past, present, and future[J]. Mt Sinai J Med, 2009, 76(6):521-528.
|
| [6] |
Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population[J]. Am J Obstet Gynecol, 2012, 207(5):374.e1-374.e6.
|
| [7] |
Ashoor G, Poon L, Syngelaki A, et al. Fetal fraction in maternal plasma cell-free DNA at 11－13 weeks′ gestation: relation to maternal and fetal characteristics[J]. Ultrasound Obstet Gynecol, 2013, 41(1):26-32.
|
| [8] |
Tong YK, Jin S, Chiu RW, et al. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach[J]. Clin Chem, 2010, 56(1):90-98.
|
| [9] |
Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood[J]. Proc Natl Acad Sci U S A, 2008, 105(42):16266-16271.
|
| [10] |
Rothberg JM, Hinz W, Rearick TM, et al. An integrated semiconductor device enabling non-optical genome sequencing[J]. Nature, 2011, 475(7356):348-352.
|
| [11] |
Vrachnis N, Vlachadis N, Creatsas G. DNA sequencing versus standard prenatal aneuploidy screening[J]. N Engl J Med, 2014, 371(6):578.
|
| [12] |
Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma[J]. Proc Natl Acad Sci U S A, 2008, 105(51):20458-20463.
|
| [13] |
Lo YM, Lau TK, Zhang J, et al. Increased Fetal DNA Concentrations in the Plasma of Pregnant Women Carrying Fetuses with Trisomy 21[J]. Clin Chem, 1999, 45(10):1747-1751.
|
| [14] |
Yin AH, Peng CF, Zhao X, et al. Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA[J]. Proc Natl Acad Sci U S A, 2015, 112(47):14670-14675.
|
| [15] |
Mazloom AR, Džakula Ž, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma[J]. Prenat Diagn, 2013, 33(6):591-597.
|
| [16] |
郭可欣，杨丽，邓涛，等. NIPT用于胎儿染色体微缺失/微重复检测的进展[J]. 中国优生与遗传杂志，2016(10):10-12.
|
| [17] |
Jensen TJ, Dzakula Z, Deciu C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma[J]. Clin Chem, 2012, 58(7):1148-1151.
|
| [18] |
Yatsenko SA, Peters DG, Saller DN, et al. Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up[J]. Genet Med, 2015, 17(10):836-838.
|
| [19] |
Srinivasan A, Bianchi DW, Huang H, et al. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma[J]. Am J Hum Genet, 2013, 92(2):167-176.
|
| [20] |
Jia Y, Zhao H, Shi D, et al. Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT)[J]. Int J Clin Exp Pathol, 2014, 7(10):7003-7011.
|
| [21] |
Li R, Wan J, Zhang Y, et al. Detection of fetal copy number variations by noninvasive prenatal testing for common aneuploidies[J]. Ultrasound Obstet Gynecol, 2015, 47(1):53-57.
|
| [22] |
Lo KK, Karampetsou E, Boustred C, et al. Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities[J]. Am J Hum Genet, 2016, 98(1):34-44.
|
| [23] |
Lun FM, Chiu RW, Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma[J]. Clin Chem, 2008, 54(10):1664-1672.
|
| [24] |
Lo YM, Chan KC, Sun H, et al. Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus[J]. Sci Transl Med, 2010, 2(61):61ra91.
|
| [25] |
Lv W, Wei X, Guo R, et al. Non-invasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)[J]. Clin Chem, 2015, 61(1):172-181.
|
| [26] |
Han M, Li Z, Wang W, et al. A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutation[J]. Genet Med, 2017, 19(12):1309-1316.
|