NIPT reference library

Academic studies and papers associated with NIPD and NIPT



Everett TR, Chitty LS. Cell-free fetal DNA: The new tool in Fetal Medicine. Ultrasound in Obstetrics and Gynecology. 2014.

Wagner AJ, Mitchell ME, Tomita-Mitchell A. Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening. Clinics in Perinatology. 2014;41(4):957-66.

Sifakis S, Koukou Z, Spandidos DA. Cell-free fetal DNA and pregnancy-related complications (review). Molecular Medicine Reports. 2015;11(4):2367-72.


Gregg AR, Van den Veyver IB, Gross SJ, Madankumar R, Rink BD, Norton ME. Noninvasive prenatal screening by next-generation sequencing. Annual Review of Genomics and Human Genetics. 2014;15:327-47.

Lo JO, Cori DF, Norton ME, Caughey AB. Noninvasive prenatal testing. Obstetrical & Gynecological Survey. 2014;69(2):89-99.

Twiss P, Hill M, Daley R, Chitty LS. Non-invasive prenatal testing for Down syndrome. Semin Fetal Neonatal Med. 2014 19(1):9-14.

Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem. 2014 60(1):78-87.


Hui L, Hyett J. Noninvasive prenatal testing for trisomy 21: Challenges for implementation in Australia. Aust N Z J Obstet Gynaecol. 2013 Oct;53(5):416-24. doi: 10.1111/ajo.12117. Epub 2013 Jul 31. PubMed PMID: 23902297.

Lo YM. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing. Reprod Biomed Online. 2013 Sep 7. doi:pii: S1472-6483(13)00466-5. 10.1016/j.rbmo.2013.08.008. [Epub ahead of print] PubMed PMID: 24140310.

Lutgendorf MA, Stoll KA, Knutzen DM, Foglia LM. Noninvasive prenatal testing: limitations and unanswered questions. Genet Med. 2013 Sep 5. doi:10.1038/gim.2013.126. [Epub ahead of print] PubMed PMID: 24009001.

Shea JL, Diamandis EP, Hoffman B, Lo YM, Canick J, van den Boom D. A new era in prenatal diagnosis: the use of cell-free fetal DNA in maternal circulation for detection of chromosomal aneuploidies. Clin Chem. 2013 Aug;59(8):1151-9.

Guedj F, Bianchi DW. Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome. Prenat Diagn. 2013 Jun;33(6):614-8.

Boon EM, Faas BH. Benefits and limitations of whole genome versus targeted approaches for non-invasive prenatal testing for fetal aneuploidies. Prenat Diagn. 2013 Jun;33(6):563-8.

Lench N, Barrett A, Fielding S, McKay F, Hill M, Jenkins L, White H, Chitty LS. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. Prenat Diagn. 2013 Jun;33(6):555-62.

Snyder MW, Simmons LE, Kitzman JO, Santillan DA, Santillan MK, Gammill HS, Shendure J. Noninvasive fetal genome sequencing: a primer. Prenat Diagn. 2013 Jun;33(6):547-54.

Agarwal A, Sayres LC, Cho MK, Cook-Deegan R, Chandrasekharan S. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn. 2013 Jun;33(6):521-31.

Walsh JM, Goldberg JD. Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment. Prenat Diagn. 2013 Jun;33(6):514-20.

Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy –  current status and future prospects. Ultrasound Obstet Gynecol. 2013 May 25.

Gahan PB. Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis. Int J Womens Health. 2013 Apr 17;5:177-86.

Simpson JL. Cell-free fetal DNA and maternal serum analytes for monitoring embryonic and fetal status. Fertil Steril. 2013 Mar 15;99(4):1124-34.

Langlois S, Brock JA; Genetics Committee,Wilson RD, Audibert F, Brock JA, Carroll J, Cartier L, Gagnon A, Johnson JA, Langlois S, Macdonald W, Murphy-Kaulbeck L, Okun N, Pastuck M, Senikas V. Current status in non-invasive prenatal detection of down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can.2013 Feb;35(2):177-81.


Tsui NB, Lo YM. Recent advances in the analysis of fetal nucleic acids in maternal plasma. Curr Opin Hematol. 2012 19(6):462-8.

Chiu RW, Lo YM. Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research. Clin Chem Lab Med. 2012 Oct 16;0(0):1-8. doi: 10.1515/cclm-2012-0601.

Bianchi DW. Prenatal diagnostics: Fetal genes in mother’s blood. Nature. 2012 487(7407):304-5.

Papageorgiou EA, Patsalis PC. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Med. 2012 4:46.

Sifakis S, Papantoniou N, Kappou D, Antsaklis A. Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights. J Perinat Med. 2012; 40:319-27.

Bustamante-Aragonés A, Rodríguez de Alba M, Perlado S, Trujillo-Tiebas MJ, Arranz JP, Díaz-Recasens J, Troyano-Luque J, Ramos C.  Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene. 2012 Apr 25. [Epub ahead of print]

Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C. Noninvasive prenatal diagnosis of monogenic disorders. Expert Opin Biol Ther. 2012 Apr 16. [Epub ahead of print]

Hill M, Barrett AN, White H, Chitty LS. Uses of cell free fetal DNA in maternal circulation.  Best Pract Res Clin Obstet Gynaecol. 2012 Apr 27. [Epub ahead of print]

Ladha S. A new era of non-invasive prenatal genetic diagnosis: exploiting fetal epigenetic differences. Clin Genet. 2011 Dec 15. [Epub ahead of print]


Sayres LC, Cho MK. Cell-free fetal nucleic Acid testing: a review of the technology and its applications. Obstet Gynecol Surv 2011;66: 431-42.

Lo YM. Fetal nucleic acids in maternal blood: the promises. Clin Chem Lab Med. 2011 Oct 25. [Epub ahead of print]

Meaney C, Norbury G. Non-invasive prenatal diagnosis. Methods Mol Biol. 2011;688:155-72.

Go AT, van Vugt JM, Oudejans CB. Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities. Hum Reprod Update. 2011. 17(3):372-82.

Hahn S, Lapaire O, Tercanli S, Kolla V, Hösli I. Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met? Expert Rev Mol Med. 2011;13:e16.

Chiu RW, Lo YM. Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age. Semin Fetal Neonatal Med. 2011:16(2):88-93.


Chiu WK, Cantor CR, Lo YM. Non-invasive prenatal diagnosis by single molecule counting technologies. Trends in Genetics. 2009. 25(7): 324-331

Hung EC, Chiu RW, Lo YM. Detection of circulating fetal nucleic acids: a review of methods and applications. J. Clin. Pathol. 2009. 62:308-313.

Lo YM. Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG. 2009. 116(2):152-7.

Wright CF, Chitty L. Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. BMJ 2009. 339:161-164.

Maddocks DG, Alberry MS, Attilakos G, Madgett TE, Choi K, Soothill PW, Avent ND. The SAFE project: towards non-invasive prenatal diagnosis. Biochem. Soc. Trans. 2009. 37: 460-465.

Rafi I, Chitty L. Cell-free fetal DNA and non-invasive prenatal diagnosis. Br J Gen Pract. 2009. 59(562):e146-8.  

Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update 2009;15: 139-51.


Finning KM, Chitty LS. Non-invasive fetal sex determination: Impact on clinical practice. Semin Fetal Neonatal Med. 2008. 13(2):69-75.

Norbury G, Norbury CJ. Non-invasive prenatal diagnosis of single gene disorders: How close are we? Semin Fetal Neonatal Med. 2008. 13(2):76-83.

van der Schoot CE, Hahn S, Chitty LS. Non-invasive prenatal diagnosis and determination of fetal Rh status. Semin Fetal Neonatal Med. 2008. 13(2):63-8.

Zimmermann BG, Grill S, Holzgreve W, Zhong XY, Jackson LG, Hahn S. Digital PCR: a powerful new tool for noninvasive prenatal diagnosis? Prenat Diagn 2008. 28:1087-1093.