1. Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–7.
2. Breveglieri G, D’Aversa E, Finotti A, Borgatti M. Non-invasive Prenatal Testing Using Fetal DNA. Mol Diagnosis Ther [Internet]. 2019;23(2):291–9. Available from: https://doi.org/10.1007/s40291-019-00385-2
3. Lo YMD, Tein MSC, Lau TK, Haines CJ, Leung TN, Poon PMK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62(4):768–75.
4. Bianchi DW, Flint AF, Pizzimenti MF, Knoll JHM, Latt SA. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci U S A. 1990;87(9):3279–83.
5. Lo YMD. Fetal DNA in maternal plasma: Biology and diagnostic applications. Clin Chem. 2000;46(12):1903–6.
6. Strom CM, Anderson B, Tsao D, Zhang K, Liu Y, Livingston K, et al. Improving the positive predictive value of Non-Invasive Prenatal Screening. PLoS One. 2017;12(3):1–18.
7. Shamshirsaz AA, Benn Peter P, Egan JFX. The role of second-trimester serum screening in the post-first-trimester screening era. Clin Lab Med. 2010;30(3):667–76. http://dx.doi.org/10.1016/j.cll.2010.04.013
8. Russo ML, Blakemore KJ. A historical and practical review of first trimester aneuploidy screening. Semin Fetal Neonatal Med. 2014;19(3):183–7. http://dx.doi.org/10.1016/j.siny.2013.11.013
9. Norwitz ER, Levy B. Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol. 2013;6(2):48–62. http://www.ncbi.nlm.nih.gov/pubmed/24466384
10. Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, et al. Non-invasive prenatal testing: A review of international implementation and challenges. Int J Womens Health. 2015;7:113–26.
11. 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(1):139–51.
12. Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056–65.
13. Kotsopoulou I, Tsoplou P, Mavrommatis K, Kroupis C. Non-invasive prenatal testing (NIPT): Limitations on the way to become diagnosis. Diagnosis. 2015;2(3):141–58.
14. Manotaya S, Xu H, Uerpairojkit B, Chen F, Charoenvidhya D, Liu H, et al. Clinical experience from Thailand: Noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies. Prenat Diagn. 2016;36(3):224–31.
15. Fiorentino F, Bono S, Pizzuti F, Duca S, Polverari A, Faieta M, et al. The clinical utility of genome-wide non invasive prenatal screening. Prenat Diagn. 2017;37(6):593–601.
16. Liang D, Lin Y, Qiao F, Li H, Wang Y, Zhang J, et al. Perinatal outcomes following cell-free DNA screening in >32 000 women: Clinical follow-up data from a single tertiary center. Prenat Diagn. 2018;38(10):755–64.
17. Pescia G, Guex N, Iseli C, Brennan L, Osteras M, Xenarios I, et al. Cell-free DNA testing of an extended range of chromosomal anomalies: Clinical experience with 6,388 consecutive cases. Genet Med. 2017;19(2):169–75.
18. Zheng J, Lu H, Li M, Guan Y, Yang F, Xu M, et al. The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications. Front Genet. 2020;11(June):1–8.
19. Yang L, Tan WC, Yang L. Prenatal screening in the era of non-invasive prenatal testing: A Nationwide cross-sectional survey of obstetrician knowledge, attitudes and clinical practice. BMC Pregnancy Childbirth. 2020;20(1):1–8.
20. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N Engl J Med. 2014;370(9):799–808.
21. Chan W V., Johnson JA, Wilson RD, Metcalfe A. Obstetrical provider knowledge and attitudes towards cell-free DNA screening: Results of a cross-sectional national survey. BMC Pregnancy Childbirth. 2018;18(1):1–8.
22. Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, et al. ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice. Ultrasound Obs Gynecol 2005; 26 527–537. 2017;49:815–6.
23. Stosic M, Levy B, Wapner R. The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis. Obstet Gynecol Clin North Am. 2018;45(1):55–68.
24. Chiu RWK, Lo YMD. Clinical applications of maternal plasma fetal DNA analysis: Translating the fruits of 15 years of research. Clin Chem Lab Med. 2013;51(1):197–204.
25. E. J. VERWEIJ MADB and DO. Non-invasive prenatal testing for trisomy 13: more harm than good? Ultrasound Obs Gynecol. 2014;44:112–4.
26. Haymon L, Simi E, Moyer K, Aufox S, Ouyang DW. Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists. Prenat Diagn. 2014;34(5):416–23.
27. Silcock C, Liao LM, Hill M, Chitty LS. Will the introduction of non-invasive prenatal testing for Down’s syndrome undermine informed choice? Heal Expect. 2015;18(5):1658–71.
28. Deans Z, Newson AJ. Should non-invasiveness change informed consent procedures for prenatal diagnosis? Heal Care Anal. 2011;19(2):122–32.
29. Rose NC, Barrie ES, et al. Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies. Genet Med. 2022 Jul;24(7):1379-1391.
30. Löwy I. Non-invasive prenatal testing: A diagnostic innovation shaped by commercial interests and the regulation conundrum. Soc Sci Med. 2022 Jul;304:113064. doi: 10.1016/j.socscimed.2020.113064. Epub 2020 May 20. PMID: 32534823.