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

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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.12513

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.

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

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/den224

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: 10.1159/000357430

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)02174-0

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: 10.1086/302205

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.c7401

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-3182368a0e

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.2012.01.030

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.2010.12.060

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: 10.1159/000337373

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.2011.165910

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.3993

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.2012.01.029

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.2012.05.021

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.2011.73

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: 10.1159/000358326

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.4002

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: 10.3109/14767058.2012.678442

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.2012.194068

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.4132

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: 10.1159/000356495

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: 10.1159/000356066

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

Revista Romana de Medicina de Laborator

Romanian Journal of Laboratory Medicine

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