2013
Boon EM, Faas BH. Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat Diagn. 2013 33:563-8 http://www.ncbi.nlm.nih.gov/pubmed/23613171
Walsh JM, Goldberg JD. Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment. Prenat Diagn. 2013 33:514-20. http://www.ncbi.nlm.nih.gov/pubmed/23686655
Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Non invasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn. 2013 May 22. doi: 10.1002/pd.4160. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/23703459
Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn. 2013 33:542-6. http://www.ncbi.nlm.nih.gov/pubmed/23613171
Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013 33:575-9. http://www.ncbi.nlm.nih.gov/pubmed/23613152
Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013 33:569-74. http://www.ncbi.nlm.nih.gov/pubmed/23592485
Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, Lo PS, Wang W, Zhang HY, Chen F, Choy KW. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn. 2013 33:602-8. http://www.ncbi.nlm.nih.gov/pubmed/23553438
Pan M, Li FT, Li Y, Jiang FM, Li DZ, Lau TK, Liao C. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat Diagn. 2013 33:598-601. http://www.ncbi.nlm.nih.gov/pubmed/23533085
Fairbrother G, Johnson S, Musci TJ, Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn. 2013 33:580-3. http://www.ncbi.nlm.nih.gov/pubmed/23494956
Mersy E, Smits LJ, van Winden LA, de Die-Smulders CE; The South-East Netherlands NIPT Consortium, Paulussen AD, Macville MV, Coumans AB, Frints SG. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update. 2013 Feb 8. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/23396607
Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L, Peng Y, Wu L. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn. 2013 Jan 9. doi: 10.1002/pd.4033. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/232996622012
Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, Nicolaides KH. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013 Jan;41:21-5. http://www.ncbi.nlm.nih.gov/pubmed/22996646
2012
Dan S, Wang W, Ren J, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors. Prenat Diagn. 2012 32:1225-32. Epub 2012 Nov 9. http://www.ncbi.nlm.nih.gov/pubmed/23138752
Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012 207(5):374.e1-6. http://www.ncbi.nlm.nih.gov/pubmed/23107079
Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, Ryan A, Sigurjonsson S, Chopra N, Dodd M, Levy B, Rabinowitz M. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012 32:1233-41.http://www.ncbi.nlm.nih.gov/pubmed/23108718
Tsaliki E, Papageorgiou EA, Spyrou C, Koumbaris G, Kypri E, Kyriakou S, Sotiriou C, Touvana E, Keravnou A, Karagrigoriou A, Lamnissou K, Velissariou V, Patsalis PC. MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21. Prenat Diagn. 2012 32:996-1001.http://www.ncbi.nlm.nih.gov/pubmed/22833530
Kinde I, Papadopoulos N, Kinzler KW, Vogelstein B. FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing. PLoS One. 2012;7(7):e41162. Epub 2012 Jul 18. http://www.ncbi.nlm.nih.gov/pubmed/22815955
Patsalis PC, Tsaliki E, Koumbaris G, Karagrigoriou A, Velissariou V, Papageorgiou EA. A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR. Expert Opin Biol Ther. 2012 12 Suppl 1:S155-61. http://www.ncbi.nlm.nih.gov/pubmed/22500647
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J, 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Jun 1. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/22742782
Stumm M, Entezami M, Trunk N, Beck M, Locherbach J, Wegner RD, Hagen A, Becker R, Hofmann W. Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms. Prenat Diagn. 2012 Jun;32:569-77. http://www.ncbi.nlm.nih.gov/pubmed/22573401
Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, Vissers L, Geurts van Kessel A. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther. 2012 Apr 16. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/22500971
Evans MI, Wright DA, Pergament E, Cuckle HS, Nicolaides KH. Digital PCR for Noninvasive Detection of Aneuploidy: Power Analysis Equations for Feasibility. Fetal Diagn Ther. 2012 Apr 25. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/22538702
Patsalis PC, Tsaliki E, Koumbaris G, Karagrigoriou A, Velissariou V, Papageorgiou EA. A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR. Expert Opin Biol Ther. 2012 Apr 14. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/22500647
Benn P, Cuckle H, Pergament E. Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. Ultrasound Obstet Gynecol. 2012 Feb;39(2):127-30. http://www.ncbi.nlm.nih.gov/pubmed/22278776
Chiu RW and Lo YM. Noninvasive prenatal diagnosis empowered by high-throughput sequencing. Prenat Diagn. 2012 32:401-6. http://www.ncbi.nlm.nih.gov/pubmed/22467171
van den Oever JM, Balkassmi S, Verweij EJ, van Iterson M, van Scheltema PN, Oepkes D, van Lith JM, Hoffer MJ, den Dunnen JT, Bakker E, Boon EM. Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem. 2012. 58:699-706. http://www.ncbi.nlm.nih.gov/pubmed/22278607
Chitty LS, Hill M, White H, Wright D, Morris S. Noninvasive prenatal testing for aneuploidy-ready for prime time? Am J Obstet Gynecol. 2012. 206:269-75. http://www.ncbi.nlm.nih.gov/pubmed/22464064
Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012. 206:322.e1-5. http://www.ncbi.nlm.nih.gov/pubmed/ 22464073
Sparks AB,StrubleCA, Wang ET, Song K, Oliphant A. Optimized Non-invasive evaluation of fetal aneuploidy risk using cell-free DNA from maternal blood. Am J Obstet Gynecol. 2012. 206:319.e1-9. http://www.ncbi.nlm.nih.gov/pubmed/ 22464072
Benn P, Cuckle H and Pergament E. Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. Ultrasound Obstet Gynecol 2012; 39: 127–130 http://www.ncbi.nlm.nih.gov/pubmed/22278776
Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynaecol. 2012. Epub ahead of print. February 2012 http://www.ncbi.nlm.nih.gov/pubmed/22362253
Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012. 14:296-305 http://www.ncbi.nlm.nih.gov/pubmed/22281937
Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, Zahn J, Lee K, Shen N, Doshi J, Sun M, Garrison J, Sandler J, Hollemon D, Pattee P, Tomita-Mitchell A, Mitchell M, Stuelpnagel J, Song K, Oliphant A. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn. 2012. 6:1-7. http://www.ncbi.nlm.nih.gov/pubmed/22223233
2011
Verweij EJ, van den Oever JM, de Boer MA, Boon EM, Oepkes D. Diagnostic Accuracy of Noninvasive detection of fetal trisomy 21 in maternal blood: A systematic review. Fetal Diagn Ther 2011 Nov 17. [Epub ahead of print]http://www.ncbi.nlm.nih.gov/pubmed/22094923
Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood. Clin Chem. 2011 57(7):1042-9. http://www.ncbi.nlm.nih.gov/pubmed/21519036
Palomaki GE Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: An International Clinical Validation. Genet Med 2011; October 17. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/22005709
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 204(3):205.e1-11. http://www.ncbi.nlm.nih.gov/pubmed/21310373.
Deng YH, Yin AH, He Q, Chen JC, He YS, Wang HQ, Li M, Chen HY. Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification. Clin Chem Lab Med. 2011 Apr;49(4):641-6. http://www.ncbi.nlm.nih.gov/pubmed/21303301
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. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6(7):e21791. Epub 2011 Jul 6. http://www.ncbi.nlm.nih.gov/pubmed/21755002
Chiu RWK, Akolekar R, Zheng YWL, Leung TY, Sun H, Chan KCA, Lun FMF, Go ATJI, Lau ET, To WWK, Leung WC, Tang RYK, Au-Yeung SKC, Lam H, Kung YY, Zhang X, van Vugt JMG, Minekawa R, Tang MHY, Wang J, Oudejans CBM, Lau TK, Nicolaides KH, Lo YMD. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011. 11;342:c7401 http://www.ncbi.nlm.nih.gov/pubmed/21224326
2010
Fan HC, Quake S. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One. 2010 May 3;5(5):e10439. http://www.ncbi.nlm.nih.gov/sites/pubmed/20454671
2009
Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, Carter NP, Patsalis PC. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol. 2009. 174(5):1609-18. http://www.ncbi.nlm.nih.gov/pubmed/19349366
Fan HC, Blumenfeld YJ, El-Sayed YY, Church J, Quake SR. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol. 2009. 200:543.e1-543.e7. http://www.ncbi.nlm.nih.gov/pubmed/19375573
Tong YK, Jin S, Chiu RW, Ding C, Chan KC, Leung TY, Yu L, Lau TK, Lo YM. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem 2009. 56:1-9. http://www.ncbi.nlm.nih.gov/pubmed/19850629
Tsui BY, Wong BCK, Leung TY, Lau TK, Chiu RWK, Lo YM. Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study. Prenatal Diagnosis 2009. 29:1031-1037. http://www.ncbi.nlm.nih.gov/pubmed/19650060
2008
Chim SS, Jin S, Lee TY, Lun FM, Lee WS, Chan LY, Jin Y, Yang N, Tong YK, Leung TY, Lau TK, Ding C, Chiu RW, Lo YM. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21 Clin Chem. 2008. 54(3):500-11. http://www.ncbi.nlm.nih.gov/pubmed/18202156
Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008. 105(51):20458-63. http://www.ncbi.nlm.nih.gov/pubmed/19073917
Fan HC, Blemenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008.105(42):16266-71. PubMed Citation http://www.ncbi.nlm.nih.gov/pubmed/18838674
2007
Lo YM, Lun FM, Chan KC, Tsui NB, Chong KC, Lau TK, Leung TY, Zee BC, Cantor CR, Chiu RW. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc. Natl. Acad. Sci. U S A. 2007. 104(32):13116-21. http://www.ncbi.nlm.nih.gov/pubmed/17664418
Lo YM, Tsui NB, Chui RW, Lau TK, Leung TN, Heung MM, Gerovassili A, Jin Y, Nicolaides KH, Cantor CR, Ding C. Plasma placental RNA allelic ratio permits non-invasive prenatal chromosomal aneuploidy detection. Nature Medicine 2007. 13:218-223. http://www.ncbi.nlm.nih.gov/pubmed/17206148