Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: What does the future hold?

Expert Review of Molecular Diagnostics

Volumn 15, Issue 8, 2015, Pages 989-998

  Wou, Karen ^a   Feinberg, Jessica L ^a   Wapner, Ronald J ^a   Simpson, Joe Leigh ^b  

^a NewYork Presbyterian Hospital   (United States)

^b FLORIDA INTERNATIONAL UNIVERSITY   (United States)

Author keywords

cell free DNA; fetal cells; fragmented DNA; genetic analysis; intact DNA; NIPT; noninvasive; nucleated red blood cells; prenatal diagnosis; trophoblasts

Indexed keywords

CELL FREE DNA; DNA; UNCLASSIFIED DRUG;

ANEUPLOIDY; CYTOGENETICS; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; FETUS CELL; FETUS DISEASE; HUMAN; LABORATORY; MATERNAL BLOOD; MATERNAL PLASMA; MENDELIAN FETAL DISORDER; MICROARRAY ANALYSIS; PRENATAL DIAGNOSIS; PRENATAL GENETIC DIAGNOSTICS; PRENATAL SCREENING; REVIEW; SEX CHROMOSOME; TROPHOBLAST; UTERINE CERVIX; BLOOD; CELL FREE SYSTEM; CYTOLOGY; FEMALE; FETUS; GENETICS; METABOLISM; PREGNANCY; PROCEDURES;

CELL-FREE SYSTEM; DNA; FEMALE; FETUS; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; TROPHOBLASTS;

EID: 84937685622     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2015.1051529     Document Type: Review

References (81)

1. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's Syndrome. N Engl J Med 2005;353:2001-11
2. Wellesley D, Dolk H, Boyd PA, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 2012;20(5):521-6
3. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367(23):2175-84
4. Mandel P, Metais P. Les acidesnucle-iques du plasma sanguin chez l'homme. C. R. Acad. Sci. Paris 1948;142:241-3
5. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7
6. Zhu YJ, Zheng YR, Li L, et al. Diagnostic accuracy of non-invasive fetal RhD genotyping using cell-free fetal DNA: a meta analysis. J Matern Fetal Neonatal Med 2014;27(18):1839-44
7. Bianchi DW, Parsa S, Bhatt S, et al. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol 2015;125(2):375-82
8. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011; 13(11):913-20
9. Wax JR, Cartin A, Chard R, et al. Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection. J Clin Ultrasound 2015;43(1):1-6
10. 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
11. Lo YM, Zhang J, Leung TN, et al. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999;64(1): 218-24
12. Juneau K, Bogard PE, Huang S, et al. Micro array-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn Ther 2014;36(4):282-6
13. Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy. Am J Obstet Gynecol 2012;207(2):137-e1-8
14. Sparks AB, Struble CA, Wang ET, et al. Non-invasive 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
15. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119(5):890-901
16. Zimmermann B, Hill M, Gemelos G, 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
17. Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X and Y. PrenatDiagn 2013;33:575-9
18. Nicolaides KH, Syngelaki A, Del Mar Gil M, et al. Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther 2014; 35(3):212-17
19. Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45(3):249-66
20. Bevilacqua E, Gil MM, Nicolaides KH, et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol 2015;45(1): 61-6
21. Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207(5):374.e1-6
22. Bianchi DW, Parker RL, Wentworth J, et al. Care study group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370(9): 799-808
23. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372(17):1589-97
24. Mazloom AR, Dzakula Z, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. PrenatDiagn 2013;33(6):591-7
25. Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. PrenatDiagn 2013;33(6):569-74
26. 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
27. Lutgendorf MA, Stoll KA, Knutzen DM, Foglia LM. Noninvasive prenatal testing: limitations and unanswered questions. Genet Med 2014;16(4):281-5
28. Ledbetter DH, Zachary JM, Simpson JL, et al. Cytogenetic results from the U.S. Collaborative Study on CVS. PrenatDiagn 1992;12(5):317-45
29. Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol 2013;209(5):415-19
30. Choi H, Lau TK, Jiang FM, et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism. PrenatDiagn 2013;33(2):198-200
31. Williams J III, Rad S, Beauchamp S, et al. Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing. Am J Obstet Gynecol 2015;doi: 10.1016/j. ajog.2015.04.005. [Epub ahead of print]
32. Larion S, Warsof SL, Romary L, et al. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obstet Gynecol 2014;211(6):651.e1-7
33. Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol 2014;124(5):979-86
34. Nicolaides KH. Turning the pyramid of prenatal care. Fetal Diagn Ther 2011;29: 183-96
35. Poon LC, Syngelaki A, Akolekar R, et al. Combined screening for pre-eclampsia and small for gestational age at 11-13 weeks. Fetal DiagnTher 2013;33:16-27
36. Greco E, Gupta R, Syngelaki A, et al. First-trimester screening for spontaneous preterm delivery with maternal characteristics and cervical length. Fetal Diagn Ther 2012;31:154-61
37. Lapaire O, Holzgreve W, Oosterwijk JC, et al. Georg Schmorl on trophoblasts in the maternal circulation. Placenta 2007;28:1-5
38. Walknowska J, Conte FA, Grumbach MM. Practical and theoretical implications of fetal-maternal lymphocyte transfer. Lancet 1969;1:1119-22
39. Bianchi DW, Flint AF, Pizzimenti MF, et al. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci USA 1990;87:3279-83
40. Bianchi DW, Mahr A, Zickwolf GK, et al. Detection of fetal cells with 47,XY, +21 karyotype in maternal peripheral blood. Hum Genet 1992;90:368-70
41. Ganshirt-Ahlert D, Borjesson-Stoll R, Burschyk M, et al. Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sorting. Am J Reprod Immunol 1993;30: 194-201
42. Price JO, Elias S, Wachtel SS, et al. Prenatal diagnosis with fetal cells isolated from maternal blood by multi parameter flow cytometry. Am J Obstet Gynecol 1991;165:1731-7
43. Hamada H, Arinami T, Kubo T, et al. Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age. Hum Genet 1993;91: 427-32
44. Choolani M, Mahyuddin AP, Hahn S. The promise of fetal cells in maternal blood. Best Pract Res Clin Obstet Gynaecol 2012; 26(5):655-67
45. Bianchi DW, Zickwolf GK, Weil GJ, et al. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc Natl Acad Sci USA 1996;93:705-8
46. Snyder MW, Simmons LE, Kitzman JO, et al. Noninvasive fetal genome sequencing: a primer. Prenat Diagn 2013;33(6):547-54
47. Mouawia H, Saker A, Jais JP, et al. Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy. Reprod Biomed Online 2012;25(5):508-20
48. Hatt L, Brinch M, Singh R, et al. A new marker set that identifies fetal cells in maternal circulation with high specificity. Prenat Diagn 2014;34(11):1066-72
49. Parano E, Falcidia E, Grillo A, et al. Fetal nucleated red blood cell counts in peripheral blood of mothers bearing Down syndrome fetus. Neuropediatrics 2001;32:147-9
50. Bianchi DW. Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br J Haematol 1999;105:574-83
51. Hahn S, Sant R, Holzgreve W. Fetal cells in maternal blood: current and future perspectives. Mol Hum Reprod 1998;4: 515-21
52. Simpson JL, Elias S. Isolating fetal cells from maternal blood: advances in prenatal diagnosis through molecular technology. JAMA 1993;270:2357-61
53. Bianchi DW, Simpson JL, Jackson LG, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. PrenatDiagn 2002;22(7): 609-15
54. Available from: www.rarecyte.com
55. Available from: http://www.kellbenx.com
56. Emad A, Bouchard EF, Lamoureux J, et al. Validation of automatic scanning of microscope slides in recovering rare cellular events: application for detection of fetal cells in maternal blood. PrenatDiagn 2014;34(6): 538-46
57. Bi W, Breman A, Shaw CA, et al. Detection of 1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. PrenatDiagn 2012;32(1):10-20
58. Kuliev A, Rechitsky S, Verlinsky O. Atlas of Pre implantation Genetic Diagnosis. 3rd edition. CRC Press; 2014
59. Shettles LB. Use of the Y chromosome in prenatal sex determination. Nature 1971;230:52-3
60. Shettles LB. Cells in cervical mucus reveal sex of infant. Am J Obstet Gynecol 1978;130:248-9
61. Rodeck C, Tutschek B, Sherlock J, Kingdom J. Methods for the trans cervical collection of fetal cells during the first trimester of pregnancy. Prenat Diagn 1995;15:933-42
62. Sargent IL, Johansen M, Chau S, Redman CWG. Clinical experience: isolating trophoblasts from maternal blood. Annals of the New York Academy of Science 1994;731:154-61
63. van Wijk IJ, van Vugt JM, Mulders MA, et al. Enrichment of fetal trophoblast cells from the maternal peripheral blood followed by detection of fetal deoxyribonucleic acid with a nested X/Y polymerase chain reaction. Am J Obstet Gynecol 1996;174: 871-8
64. Massari A, Novelli G, Colosimo A, et al. Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells. Hum Genet 1996;97: 150-5
65. Chang SD, Lin SL, Chu KK, Hsi BL. Minimally-invasive early prenatal diagnosis using fluorescence in situ hybridization on samples from uterine lavage. PrenatDiagn 1997;17:1019-25
66. Fang CN, Kan YY, Hsiao CC. Detection of fetal cells from transcervical mucus plug before first-trimester termination of pregnancy by cytokeratin-7 immunohistochemistry. J Obstet Gynaecol Res 2005;31(6):500-7
67. Katz-Jaffe MG, Mantzaris D, Cram DS. DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis. BJOG 2005;112(5):595-600
68. Bolnick JM, Kilburn BA, Bajpayee S, et al. Trophoblast retrieval and isolation from the cervix (TRIC) for noninvasive prenatal screening at 5 to 20 weeks of gestation. Fertil Steril 2014;102(1):135-142.e6
69. Saito H, Sekizawa A, Morimoto T, et al. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet 2000;356(9236):1170
70. Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 2000;46(2):301-2
71. Lun FM, Tsui NB, Chan KC, et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl AcadSci USA 2008;105(50):19920-5
72. Lo YMD, Chan KCA, Sun H, et al. Maternal plasma DNA sequencing reveals genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010;2
73. Lun FMF, Tsui NBY, Chan KCA, et al. Non-invasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl AcadSci USA 2008;105:19920-5
74. Lench N, Barrett A, Fielding S, et al. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. PrenatDiagn 2013;33(6):555-62
75. Benn P, Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. PrenatDiagn 2014;34(8):778-83
76. Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of non-invasive prenatal testing: detection of fetal micro deletion syndromes. Am J Obstet Gynecol 2015;212(3):332.e1-9
77. Jensen TJ, Dzakula Z, Deciu C, et al. Detection of micro deletion 22 q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 2012;58(7): 1148-51
78. Yatsenko SA, Peters DG, Saller DN, et al. Maternal cell-free DNA-based screening for fetal micro deletion and the importance of careful diagnostic follow-up. Genet Med 2015;[Epub ahead of print]
79. Rabinowitz M, Savage M, Pettersen B, et al. Noninvasive cell-free DNA-based prenatal detection of micro deletions sing single nucleotide polymorphism-targeted sequencing. Obstet Gynecol 2014; 123(Suppl 1):167S
80. Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. summary and recommendations. Eur J Hum Genet 2015; Epub ahead of print
81. Akolekar R, Beta J, Picciarelli G, et al. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015;45(1):16-26