NIPT reference library

Academic studies and papers associated with NIPD and NIPT

Cell-free fetal DNA


Curnow KJ, Wilkins-Haug L, Ryan A, Kirkizlar E, Stosic M, Hall MP, et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. American Journal of Obstetrics and Gynecology. 2015;212(1):79.e1-9.


Barrett AN, Thadani HA, Laureano-Asibal C, Ponnusamy S, Choolani M. Stability of cell-free DNA from maternal plasma isolated following a single centrifugation step. Prenatal Diagnosis. 2014. [Epub ahead of print]

Ioannides M, Papageorgiou EA, Keravnou A, Tsaliki E, Spyrou C, Hadjidaniel M, et al. Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS. Molecular Cytogenetics. 2014;7(1):73.

Martin A, Krishna I, Martina B, Samuel A. Can the quantity of cell-free fetal DNA predict preeclampsia: a systematic review. Prenatal Diagnosis. 2014;34(7):685-91.

Quezada MS, Francisco C, Dumitrascu-Biris D, Nicolaides KH, Poon LC. Fetal fraction in maternal plasma cell-free DNA in the prediction of spontaneous preterm delivery. Ultrasound in Obstetrics and Gynecology. 2014.

Rolnik DL, O’Gorman N, Fiolna M, van den Boom D, Nicolaides KH, Poon LC. Maternal plasma cell-free DNA in the prediction of preeclampsia. Ultrasound in Obstetrics and Gynecology. 2014.

van den Oever JM, Balkassmi S, Segboer T, Verweij EJ, van der Velden PA, Oepkes D, Bakker E, Boon EM. Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma. PLoS One. 2013 Dec 31;8(12):e84051.

Struble CA, Syngelaki A, Oliphant A, Song K, Nicolaides KH. Fetal Fraction Estimate in Twin Pregnancies Using Directed Cell-Free DNA Analysis. Fetal Diagn Ther. 2013 Dec 7. [Epub ahead of print]

Schlütter JM, Hatt L, Bach C, Kirkegaard I, Kølvraa S, Uldbjerg N. The cell-free fetal DNA fraction in maternal blood decreases after physical activity. Prenat Diagn. 2014 34(4):341-4.


Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013 Jul 25. doi: 10.1038/gim.2013.92. [Epub ahead of print] PubMed PMID: 23887774.

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 Jul 15. [Epub ahead of print] PubMed PMID: 23857673

Samuel A, Bonanno C, Oliphant A, Batey A, Wright JD. Fraction of cell-free fetal DNA in the maternal serum as a predictor of abnormal placental invasion-a pilot study. Prenat Diagn. 2013 Jul 8. doi: 10.1002/pd.4195. [Epub ahead of print] PubMed PMID: 23836321.

Zheng J, Xu C, Guo J, Wei Y, Ge H, Li X, Zhang C, Jiang H, Pan L, Tang W, Xie W, Zhang H, Zhao Y, Jiang F, Chen S, Wang W, Xu X, Chen F, Huang H, Jiang H. Effective noninvasive zygosity determination by maternal plasma target region sequencing. PLoS One. 2013 Jun 10;8(6):e65050. doi: 10.1371/journal.pone.0065050. Print 2013. PubMed PMID: 23762285; PubMed Central PMCID: PMC3677919.

Jakobsen TR, Clausen FB, Rode L, Dziegiel MH, Tabor A. Identifying mild and severe preeclampsia in asymptomatic pregnant women by levels of cell-free fetal DNA. Transfusion. 2013 Jan 16. [Epub ahead of print]


Repiská G, Sedláčková T, Szemes T, Celec P, Minárik G. Selection of the optimal manual method of cell free fetal DNA isolation from maternal plasma. Clin Chem Lab Med. 2012 Dec 8:1-5. [Epub ahead of print]

Jiang P, Chan KC, Liao GJ, Zheng YW, Leung TY, Chiu RW, Lo YM, Sun H. FetalQuant: Deducing Fractional Fetal DNA Concentration from Massively Parallel Sequencing of DNA in Maternal Plasma. Bioinformatics. 2012 Sep 8. [Epub ahead of print]

Ashoor G, Syngelaki A, Poon L, Rezende J, Nicolaides K. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013 41(1):26-32.

Jakobsen TR, Clausen FB, Rode L, Dziegiel MH, Tabor A. High levels of fetal DNA are associated with increased risk of spontaneous preterm delivery. Prenat Diagn. 2012 Jun 18. [Epub ahead of print]

Bunce K, Chu T, Surti U,HoggeWA, Peters DG. Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease. Prenat Diagn. 2012 Apr 11. doi: 10.1002/pd.3853. [Epub ahead of print]

Hidestrand M, Stokowski R, Song K, Oliphant A, Deavers J, Goetsch M, Simpson P, Kuhlman R, Ames M, Mitchell M, Tomita-Mitchell A. Influence of Temperature during Transportation on Cell-Free DNA Analysis. Fetal Diagn Ther. 2012 Jan 19. [Epub ahead of print]


Müller SP, Bartels I, Stein W, Emons G, Gutensohn K, Legler TJ.Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days. Prenat Diagn. 2011. 31(13):1300-4.

Hindson BJ et al.  High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011. 83(22):8604-10.

Lo YM. The Quest for Accurate Measurement of Fetal DNA in Maternal Plasma. Clin Chem. 2011. 57(3):522-3.


Tsui DW, Chiu RW, Lo YD. Epigenetic approaches for the detection of fetal DNA in maternal plasma. Chimerism. 2010 1(1):30-35.

Gruchy N, Decamp M, Richard N, Jeanne-Pasquier C, Benoist G, Mittre H, Leporrier N. Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA. Prenat Diagn. 2011 Oct 24. [Epub ahead of print]

Hahn S, Rusterholz C, Hosli I, Lapaire O. Cell-free nucleic acids as potential markers for preeclampsia. Placenta. 2011 32 Suppl:S17-20.

Liao GJ, Lun FM, Zheng YW, Chan KC, Leung TY, Lau TK, Chiu RW, Lo YM. Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin Chem. 2011. 57(1):92-101.

Huang Z, Fong CY, Gauthaman K, Sukumar P, Choolani M, Bongso A. Novel approaches to manipulating foetal cells in the maternal circulation for non-invasive prenatal diagnosis of the unborn child. J Cell Biochem. 2011. 112(6):1475-85.


Lo DYM, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RWK. Maternal plasma DNA sequencing reveals the genome-wide genetics and mutational profile of the fetus. Sci Transl Med.  2010 Dec 8;2(61):61ra91.

Chu T, Bunce K, HoggeWA, Peters DG. Statistical considerations for digital approaches to non-invasive fetal genotyping. Bioinformatics. 2010 Nov 15;26(22):2863-6.

Zhao F, Wang J, Liu R, Yang J, Cui K, Wu Y, Guo J, Mu Y, Wang X. Quantification and application of the placental epigenetic signature of the RASSF1A gene in maternal plasma. Prenat Diagn. 2010 30(8):778-82.

Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake S. Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing. Clin Chem 2010 Aug;56(8):1279-86.


Hahn T, Drese KS, O’Sullivan CK. Microsystem for isolation of fetal DNA from maternal plasma by preparative size separation. Clin Chem. 2009. 55(12):2144-52.

Tang DL, Li Y, Zhou X, Li X, Zheng F. Multiplex fluorescent PCR for noninvasive prenatal detection of fetal-derived paternally inherited diseases using circulatory fetal DNA in maternal plasma. Eur J Obstet Gynecol Reprod Biol. 2009. 144(1):35-9.

Lazar L, Rigó J Jr, Nagy B, Balogh K, Makó V, Cervenak L, Mézes M, Prohászka Z, Molvarec A.Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia. BMC Med Genet. 2009. 10:120-126.


Chim SS, Shing KF, Hung CW, Leung T-Y, Lau TK, Chiu WK, Lo YM. Detection and characterization of placental microRNAs in maternal plasma. Clin Chem. 2008. 54:482-490.


Alberry M, Maddocks D, Jones M, Abdel Hadi M, Abdel-Fattah S, Avent N, Soothill PW. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn. 2007. 27(5):415-8.


Chan KC, Ding C, Gerovassili A, Yeung SW, Chiu RW, Leung TN, Lau TK, Chim SS, Chung GT, Nicolaides KH, Lo YM. Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem. 2006. 52(12):2211-8.


Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, Chan LY, Oudejans CB, Ding C, Lo YM. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci U S A. 2005. 102(41):14753-8.


Dhallan R, Wei-Chun A, Mattagajasingh S, Emche S, Bayliss P, Damewood M, Cronin M, Chou V, Mohr M. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA 2004. 291:1114-1119.


Lo YM, Zhang J,LeungTN, Lau TK, Chang AM and Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999. 64(1) 218–224.


Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, Wainscoat JS, Johnson PJ, Chang AM, Hjelm NM. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for non-invasive prenatal diagnosis. Am J Hum Genet 1998. 62:768-775.


Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997. 350:485e7.