NIPT reference library

Academic studies and papers associated with NIPD and NIPT

NIPT for aneuploidy


Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA Analysis for Noninvasive Examination of Trisomy. The New England Journal of Medicine. 2015. [Epub ahead of print]

Chitty LS. Use of Cell-free DNA to Screen for Down’s Syndrome. The New England Journal of Medicine. 2015. [Epub ahead of print]

Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics and Gynecology. 2015;45(3):249-66.

Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstetrics and Gynecology. 2014;124(5):979-86.

Alberti A, Salomon LJ, Le Lorc’h M, Couloux A, Bussieres L, Goupil S, et al. Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma. Prenatal Diagnosis. 2015. [Epub ahead of print]

Bianchi DW, Parsa S, Bhatt S, Halks-Miller M, Kurtzman K, Sehnert AJ, et al. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstetrics and Gynecology. 2015;125(2):375-82.

Palomaki GE, Kloza EM, Lambert-Messerlian GM, van den Boom D, Ehrich M, Deciu C, et al. Circulating cell free DNA testing: are some test failures informative? Prenatal Diagnosis. 2015;35(3):289-93.

Wang S, Huang S, Ma L, Liang L, Zhang J, Zhang J, et al. Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing. Clinica Chimica Acta. 2015;444:113-6.

Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, et al. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. EJHG. 2015. [Epub ahead of print]


Bevilacqua E, Gil MM, Nicolaides KH, Ordonez E, Cirigliano V, Dierickx H, et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound in Obstetrics and Gynecology. 2014. [Epub ahead of print]

Beulen L, Grutters JP, Faas BH, Feenstra I, van Vugt JM, Bekker MN. The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis. European Journal of Obstetrics, Gynecology, and Reproductive Biology. 2014;182c:53-61.

Evans MI, Sonek JD, Hallahan TW, Krantz DA. Cell-Free Fetal DNA Screening in the United States: A Cost Analysis of Screening Strategies. Ultrasound in Obstetrics and Gynecology. 2014. [Epub ahead of print]

Juneau K, Bogard PE, Huang S, Mohseni M, Wang ET, Ryvkin P, et al. Microarray-Based Cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagnosis and Therapy. 2014.

Liao C, Yin AH, Peng CF, Fu F, Yang JX, Li R, et al. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proceedings of the National Academy of Sciences of the United States of America. 2014;111(20):7415-20.

Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstetrics and Gynecology. 2014;124(2 Pt 1):210-8.

Quezada MS, Gil MM, Francisco C, Orosz G, Nicolaides KH. Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks’ gestation and the combined test at 11-13 weeks.  Ultrasound in Obstetrics and Gynecology. 2014. [Epub ahead of print]

Wang JC, Sahoo T, Schonberg S, Kopita KA, Ross L, Patek K, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genetics in Medicine. 2014. [Epub ahead of print]

Rabinowitz M, Valenti E, Pettersen B, Sigurjonsson S, Hill M, Zimmermann B. Noninvasive aneuploidy detection by multiplexed amplification and sequencing of polymorphic Loci. Obstet Gynecol. 2014 May;123 Suppl 1:167S.

Papageorgiou EA, Koumbaris G, Kypri E, Hadjidaniel M, Patsalis PC. The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis. Genes (Basel). 2014 Apr 9;5(2):310-29. doi: 10.3390/genes5020310.

Porreco RP, Garite TJ, Maurel K, Marusiak B, Ehrich M, van den Boom D, Deciu  C, Bombard A. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. 2014 Mar 19. pii: S0002-9378(14)00270-1.

Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, Oliver K, Rava RP, Sehnert AJ; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014  Feb 27;370(9):799-808.

Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH. Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis. Fetal Diagn Ther. 2014 35(3):156-73.

Liu XY, Zhang HG, Wang RX, Chen S, Yu XW, Liu RZ. Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing. J Assist Reprod Genet. 2014 Feb 5. [Epub ahead of print]

Nicolaides KH, Musci TJ, Struble CA, Syngelaki A, Gil MM. Assessment of fetal  sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther. 2014;35(1):1-6.

Gil MM, Quezada MS, Bregant B, Syngelaki A, Nicolaides KH. Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies. Fetal Diagn Ther. 2014 35(3):204-11

Hooks J, Wolfberg AJ, Wang ET, Struble CA, Zahn J, Juneau K, Mohseni M, Huang S, Bogard P, Song K, Oliphant A, Musci TJ. Non-invasive risk assessment of fetal  sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. Prenat Diagn. 2014 May;34(5):496-9.

Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LF, Yuen OK, Chan HY, Chan WS, Choy KW. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014 43(3):254-64.

Yeang CH, Ma GC, Hsu HW, Lin YS, Chang SM, Cheng PJ, Chen CA, Ni YH, Chen M. Genome-wide normalized score: a novel counting algorithm to detect fetal trisomy  21 in non-invasive prenatal testing. Ultrasound Obstet Gynecol. 2014 44(1):25-30.

Mao J, Wang T, Wang BJ, Liu YH, Li H, Zhang J, Cram D, Chen Y. Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy. Clin Chim Acta. 2014 433C:190-193.


Lun FM, Chiu RW, Sun K, Leung TY, Jiang P, Chan KC, Sun H, Lo YM. Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA. Clin Chem. 2013 Nov;59(11):1583-94. doi: 10.1373/clinchem.2013.212274. Epub 2013 Jul 15. PubMed PMID: 23857673.

Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aneuploidies and Monosomy X. Clin Chem. 2013 Oct 7. [Epub ahead of print] PubMed PMID: 24046201.

Verweij EJ, Jacobsson B, van Scheltema PA, de Boer MA, Hoffer MJ, Hollemon D, Westgren M, Song K, Oepkes D. European Non-Invasive Trisomy Evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn. 2013 Oct;33(10):996-1001. doi: 10.1002/pd.4182. Epub 2013 Jul 21. PubMed PMID: 23794121.

Bianchi DW, Oepkes D, Ghidini A. Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women? Prenat Diagn. 2013 Sep 3:1-6. doi: 10.1002/pd.4229. [Epub ahead of print] PubMed PMID: 24002925.

Buysse K, Beulen L, Gomes I, Gilissen C, Keesmaat C, Janssen IM, Derks-Willemen JJ, de Ligt J, Feenstra I, Bekker MN, van Vugt JM, Geurts van Kessel A, Vissers LE, Faas BH. Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture. Clin Biochem. 2013 Aug 8. doi:pii: S0009-9120(13)00353-6.10.1016/j.clinbiochem.2013.07.020. [Epub ahead of print]PubMed PMID: 23933476.

Reiss RE, Cherry AM. Still a screening test: more attention needed to noninvasive prenatal test false-positive rates. Am J Obstet Gynecol. 2013 Aug;209(2):160-1. doi: 10.1016/j.ajog.2013.04.021. Epub 2013 Apr 11. PubMed PMID: 23583784.

Johnson J, Pastuck M, Metcalfe A, Connors G, Krause R, Wilson D, Cuckle H. First-trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell-free DNA. Prenat Diagn. 2013 Jul 8:1-6. doi: 10.1002/pd.4194. [Epub ahead of print] PubMed PMID: 23836291.

Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol. 2013 Jul;42(1):34-40. doi: 10.1002/uog.12504. Epub 2013 Jun 7. PubMed PMID: 23744609.

Guex N, Iseli C, Syngelaki A, Deluen C, Pescia G, Nicolaides KH, Xenarios I,Conrad B. A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn. 2013 Jul;33(7):707-10. doi: 10.1002/pd.4130. Epub 2013 May 3. PubMed PMID: 23592076.

Searle CJ, Smith K, Daniels G, Maher EJ, Quarrell O. Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion. Prenat Diagn. 2013 Jun;33(6):612-3. doi: 10.1002/pd.4078. Epub 2013 Apr 1.

Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2013 Jul;42(1):41-50. doi: 10.1002/uog.12511. Epub 2013 Jun 7. PubMed PMID: 23744626.

Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn. 2013 Jul;33(7):643-9. doi: 10.1002/pd.4159. Epub 2013 Jun 20. PubMed PMID:23712453.

Kyriakou S, Kypri E, Spyrou C, Tsaliki E, Velissariou V, Papageorgiou EA, Patsalis PC. Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology. Prenat Diagn. 2013 Jul;33(7):650-5. doi: 10.1002/pd.4140. Epub 2013 May 28. PubMed PMID: 23619923.

Osborne CM, Hardisty E, Devers P, Kaiser-Rogers K, Hayden MA, Goodnight W, Vora NL. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn. 2013 Jun;33(6):609-11. doi: 10.1002/pd.4100. Epub 2013 Apr 5. PubMed PMID: 23559449.

Mazloom AR, Džakula Z, Oeth P, Wang H, Jensen T, Tynan J, McCullough R, Saldivar JS, Ehrich M, van den Boom D, Bombard AT, Maeder M, McLennan G, Meschino W, Palomaki GE, Canick JA, Deciu C. Non-invasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013 Jun;33(6):591-7. doi: 10.1002/pd.4127. PubMed PMID:23592550.

Verweij EJ, Jacobsson B, Adama van Scheltema PN, de Boer MA, Hoffer MJ, Hollemon D, Westgren M, Song K, Oepkes D. European Non-Invasive Trisomy Evaluation (EU-NITE) Study: a multicenter prospective cohort study for noninvasive fetal trisomy 21 testing. Prenat Diagn. 2013 Jun 22. doi: 10.1002/pd.4182. [Epub ahead of print] PubMed PMID: 23794121.

Bianchi DW, Prosen T, Platt LD, Goldberg JD, Abuhamad AZ, Rava RP, Sehnert AJ; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma. Obstet Gynecol. 2013 May;121(5):1057-62. doi: 10.1097/AOG.0b013e31828ba3d8. PubMed PMID: 23635743.

Yu SC, Jiang P, Choy KW, Chan KC, Won HS, Leung WC, Lau ET, Tang MH, Leung TY,Lo YM, Chiu RW. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013 Apr 17;8(4):e60968. doi: 10.1371/journal.pone.0060968. Print 2013.PubMed PMID: 23613765; PubMed Central PMCID: PMC3629174.

Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, Weaver DD, Abernathy MP, Litton CG, Vance GH. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med. 2013 Mar 14. doi: 10.1038/gim.2013.26. [Epub ahead of print] PubMed PMID: 23492874.

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

Walsh JM, Goldberg JD. Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment. Prenat Diagn. 2013 33:514-20.

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]

Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn. 2013 33:542-6.

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.

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.

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.

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.

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.

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]

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]

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.


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.

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.

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.

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.

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.

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.

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]

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.

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]

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]

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]

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.

Chiu RW and Lo YM. Noninvasive prenatal diagnosis empowered by high-throughput sequencing. Prenat Diagn. 2012 32:401-6.

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.

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.

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. 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. 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

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

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

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.


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]

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.

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]

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.

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.

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.

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


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.


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.

Fan HC, Blumenfeld YJ, El-Sayed YY, Church J, Quake SRMicrofluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol. 2009. 200:543.e1-543.e7.

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.

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.


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.

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.

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


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.

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.