Cell-free fetal DNA in maternal blood – an update of the method and clinical practice

1. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42(1):5-33. DOI: 10.1002/uog.1251310.1002/uog.12513Search in Google Scholar

2. Cuckle H, Benn P. Multianalyte maternal serum screening for chromosomal defects. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (6th Edn), Milunsky A, Milunsky JM (eds). Wiley-Blackwell, Chichester, UK. 2010;771-818.10.1002/9781444314342.ch24Search in Google Scholar

3. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(1):7-15. DOI: 10.1002/pd.263710.1002/pd.2637Search in Google Scholar

4. Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free β-hCG and pregnancy-associated plasma protein-A. Hum Reprod. 2008;23(9):1968-1975. DOI: 10.1093/ humrep/den22410.1093/humrep/den224Search in Google Scholar

5. Wright D, Syngelaki A, Bradburi I, Akolekar R, Nicolaides KH. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and bio-chemical testing. Fetal Diagn Ther. 2014; in press. DOI: 10.1159/00035743010.1159/000357430Search in Google Scholar

6. Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CWG, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485-7. DOI: 10.1016/S0140-6736(97)02174-010.1016/S0140-6736(97)02174-0Search in Google Scholar

7. Lo YMD, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet. 1999;64(1):218-24. DOI: 10.1086/30220510.1086/30220513777209915961Search in Google Scholar

8. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive pre- natal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011;342:c7401. DOI: 10.1136/bmj.c740110.1136/bmj.c7401301923921224326Search in Google Scholar

9. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13(11):913-20. DOI: 10.1097/GIM.0b013e-3182368a0eSearch in Google Scholar

10. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206(4):319.e1-9. DOI: 10.1016/j. ajog.2012.01.030Search in Google Scholar

11. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, et al. 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. DOI: 10.1016/j.ajog.2010.12.06010.1016/j.ajog.2010.12.06021310373Search in Google Scholar

12. Ashoor G, Poon L, Syngelaki A, Mosimann B, Nico laides KH. Fetal Fraction in Maternal Plasma Cell-Free DNA at 11-13 Weeks’ Gestation: Effect of Maternal and Fetal Factors. Fetal Diagn Ther. 2012;31(4):237-43. DOI: 10.1159/00033737310.1159/00033737322572044Search in Google Scholar

13. Sehnert AJ, Rhees B, Comstock D, Comstock D, de Feo E, Heilek G, et al. 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. DOI: 10.1373/ clinchem.2011.16591010.1373/clinchem.2011.16591021519036Search in Google Scholar

14. Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012;32(13):1233-41. DOI: 10.1002/pd.399310.1002/pd.3993354860523108718Search in Google Scholar

15. 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. Am J Obstet Gynecol. 2012;206(4):322.e1-5. DOI: 10.1016/j. ajog.2012.01.029Search in Google Scholar

16. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, et al. 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; 207(2):137. e1-8. DOI: 10.1016/j.ajog.2012.05.02110.1016/j.ajog.2012.05.02122742782Search in Google Scholar

17. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, 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(3):296-305. DOI: 10.1038/gim.2011.7310.1038/gim.2011.73393817522281937Search in Google Scholar

18. Gll 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):156-173. DOI: 10.1159/00035832610.1159/00035832624513694Search in Google Scholar

19. Dan S, Wang W, Ren J, Li Y, Hu H, Xu Z, 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(13):1225-32. DOI: 10.1002/ pd.400210.1002/pd.400223138752Search in Google Scholar

20. Lau TK, Chan MK, Salome Lo PS, Chan HY, Chan WS, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. J Matern Fetal Neonatal Med. 2012;25(10):1856-9. DOI: 10.3109/14767058.2012.67844210.3109/14767058.2012.678442348305922471583Search in Google Scholar

21. Qu JZ, Leung TY, Jiang P, Liao GJ, Cheng YK, Sun H, et al. Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis. Clin Chem. 2013;59(2):427-35. DOI: 10.1373/ clinchem.2012.19406810.1373/clinchem.2012.19406823115054Search in Google Scholar

22. Leung TY, Qu JZ, Liao GJ, Jiang P, Cheng YK, Chan KC, et al. Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing. Prenat Diagn. 2013;33(7):675-81. DOI: 10.1002/pd.413210.1002/pd.413223595772Search in Google Scholar

23. 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. DOI: 10.1159/00035649510.1159/00035649524247435Search in Google Scholar

24. Nicolaides KH, Syngelaki A, Poon LC, Gil MM, Wright D. First Trimester Contingent Screeningfor Trisomies 21, 18 and 13 by Biomarkers and Maternal Blood Cell- Free DNA Testing. Fetal Diagn Ther. 2014;35(3):185-92. DOI: 10.1159/00035606610.1159/00035606624192489Search in Google Scholar

25. Gorduza EV, Popescu R, Caba L, Ivanov I, Martiniuc V, et al. Prenatal diagnosis of 21 trisomy by quantification of methylated fetal DNA in maternal blood: study on 10 pregnancies. Rev Romana Med Lab. 2013;21(3):275-84. DOI: 10.2478/rrlm-2013-0030 10.2478/rrlm-2013-0030Search in Google Scholar