Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis

EPMA Journal

Volumn 2, Issue 2, 2011, Pages 163-171

  Tounta, Georgia ^a   Kolialexi, Aggeliki ^a   Papantoniou, Nikolas ^a   Tsangaris, George Th ^b   Kanavakis, Emmanuel ^a   Mavrou, Ariadni ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b BIOMEDICAL RESEARCH FOUNDATION   (Greece)

Author keywords

Cell free fetal nucleic acids; Chromosomal aneuploidies; Fetal gender; Fetal RhD status; Monogenic disorders; Non invasive prenatal diagnosis

Indexed keywords

CELL FREE FETAL NUCLEIC ACID; DNA; NUCLEIC ACID; PLASMA PROTEIN; RHESUS D ANTIBODY; UNCLASSIFIED DRUG;

ACHONDROPLASIA; ANALYTIC METHOD; ANEUPLOIDY; AUTOSOMAL DISORDER; CLINICAL EFFECTIVENESS; COST EFFECTIVENESS ANALYSIS; GENE SEQUENCE; GENETIC ASSOCIATION; HIGH THROUGHPUT SEQUENCING; HUMAN; HUNTINGTON CHOREA; MATERNAL PLASMA; MONOGENIC DISORDER; MYOTONIC DYSTROPHY; NEWBORN HEMOLYTIC DISEASE; NON INVASIVE PROCEDURE; NUCLEIC ACID ANALYSIS; PERSONALIZED MEDICINE; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROCESS DEVELOPMENT; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; REVIEW; RHESUS INCOMPATIBILITY; SEQUENCE ANALYSIS; SEX DETERMINATION; Y CHROMOSOME;

EID: 79961039030     PISSN: 18785077     EISSN: 18785085     Source Type: Journal    
DOI: 10.1007/s13167-011-0085-y     Document Type: Review

References (84)

1. Lo YM, Lo ES, Watson N, Noakes L, Sargent IL, Thilaganathan B, et al. Two-way cell traffic between mother and fetus: biologic and clinical implications. Blood. 1996; 88: 4390-5.
2. Bianchi DW. Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br J Haematol. 1999; 105: 574-83.
3. Sekizawa A, Purwosunu Y, Farina A, Okai T, Takabayashi H, Kita M, et al. Development of noninvasive fetal DNA diagnosis from nucleated erythrocytes circulating in maternal blood. Prenat Diagn. 2007; 27: 846-8.
4. Jackson L. Fetal cells and DNA in maternal blood. Prenat Diagn. 2003; 23: 837-46.
5. Babochkina T, Mergenthaler S, De Napoli G, Hristoskova S, Tercanli S, Holzgreve W, et al. Numerous erythroblasts in maternal blood are impervious to fluorescent in situ hybridization analysis, a feature related to a dense compact nucleus with apoptotic character. Haematologica. 2005; 90: 740-5.
6. Bianchi DW, Williams JM, Sullivan LM, Hanson FW, Klinger KW, Shuber AP. PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet. 1997; 61: 822-9.
7. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997; 350: 485-7.
8. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998; 62: 768-75.
9. Guibert J, Benachi A, Grebille AG, Ernault P, Zorn JR, Costa JM. Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum Reprod. 2003; 18: 1733-6.
10. Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet. 1999; 64: 218-24.
11. Lun FM, Chiu RW. Allen Chan KC, Yeung Leung T, Kin Lau T, Dennis Lo YM. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem. 2008; 54: 1664-72.
12. Birch L, English CA, O'Donoghue K, Barigye O, Fisk NM, Keer JT. Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clin Chem. 2005; 51: 312-20.
13. Masuzaki H, Miura K, Yoshiura KI, Yoshimura S, Niikawa N, Ishimaru T. Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism. J Med Genet. 2004; 41: 289-92.
14. Alberry M, Maddocks D, Jones M, Abdel Hadi M, Abdel-Fattah S, Avent N, et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn. 2007; 27: 415-8.
15. Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem. 2004; 50: 88-92.
16. Li Y, Zimmermann B, Rusterholz C, Kang A, Holzgreve W, Hahn S. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin Chem. 2004; 50: 1002-11.
17. Poon LL, Leung TN, Lau TK, Lo YM. Presence of fetal RNA in maternal plasma. Clin Chem. 2000; 46: 1832-4.
18. Ng EK, Tsui NB, Lau TK, Leung TN, Chiu RW, Panesar NS, et al. mRNA of placental origin is readily detectable in maternal plasma. Proc Natl Acad Sci USA. 2003; 100: 4748-53.
19. Gupta AK, Holzgreve W, Huppertz B, Malek A, Schneider H, Hahn S. Detection of fetal DNA and RNA in placenta-derived syncytiotrophoblast microparticles generated in vitro. Clin Chem. 2004; 50: 2187-90.
20. Chim SS, Jin S, Lee TY, Lun FM, Lee WS, Chan LY, et al. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin Chem. 2008; 54: 500-11.
21. Chim SS, Shing TK, Hung EC, Leung TY, Lau TK, Chiu RW, et al. Detection and characterization of placental microRNAs in maternal plasma. Clin Chem. 2008; 54: 482-90.
22. Clausen FB, Krog GR, Rieneck K, Dziegiel MH. Improvement in fetal DNA extraction from maternal plasma. Evaluation of the NucliSens Magnetic Extraction system and the QIAamp DSP Virus Kit in comparison with the QIAamp DNA Blood Mini Kit. Prenat Diagn. 2007; 27: 6-10.
23. Legler TJ, Liu Z, Mavrou A, Finning K, Hromadnikova I, Galbiati S, et al. Workshop report on the extraction of foetal DNA from maternal plasma. Prenat Diagn. 2007; 27: 824-9.
24. Li Y, Di Naro E, Vitucci A, Zimmermann B, Holzgreve W, Hahn S. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA. 2005; 293: 843-9.
25. Dhallan R, Au WC, Mattagajasingh S, Emche S, Bayliss P, Damewood M, et al. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA. 2004; 291: 1114-9.
26. Li Y, Page-Christiaens GC, Gille JJ, Holzgreve W, Hahn S. Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn. 2007; 27: 11-7.
27. Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000; 356: 1170.
28. Chiu RW, Lau TK, Cheung PT, Gong ZQ, Leung TN, Lo YM. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem. 2002; 48: 778-80.
29. Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet. 2002; 360: 998-1000.
30. Ding C, Chiu RW, Lau TK, Leung TN, Chan LC, Chan AY, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA. 2004; 101: 10762-7.
31. Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, et al. New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. J Cyst Fibros. 2008; 7: 505-10.
32. Minon JM, Gerard C, Senterre JM, Schaaps JP, Foidart JM. Routine fetal RHD genotyping with maternal plasma: a four-year experience in Belgium. Transfusion. 2008; 48: 373-81.
33. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA. 2008; 105: 16266-71.
34. Fan HC, Blumenfeld YJ, El-Sayed YY, Chueh J, Quake SR. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol. 2009; 200: 543 e1-7.
35. Hyett JA, Gardener G, Stojilkovic-Mikic T, Finning KM, Martin PG, Rodeck CH, et al. Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy. Prenat Diagn. 2005; 25: 1111-6.
36. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn. 2001; 21: 1070-4.
37. Scheffer PG, van der Schoot CE, Page-Christiaens GC, Bossers B, van Erp F, de Haas M. Reliability of fetal sex determination using maternal plasma. Obstet Gynecol. 115: 117-26.
38. Bustamante-Aragones A, Rodriguez de Alba M, Gonzalez-Gonzalez C, Trujillo-Tiebas MJ, Diego-Alvarez MD, Vallespin E, et al. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Haemophilia. 2008; 14: 593-8.
39. Baird PA, Anderson TW, Newcombe HB, Lowry RB. Genetic disorders in children and young adults: a population study. Am J Hum Genet. 1988; 42: 677-93.
40. Bartha JL, Finning K, Soothill PW. Fetal sex determination from maternal blood at 6 weeks of gestation when at risk for 21-hydroxylase deficiency. Obstet Gynecol. 2003; 101: 1135-6.
41. Bowman J. Rh-immunoglobulin: Rh prophylaxis. Best Pract Res Clin Haematol. 2006; 19: 27-34.
42. Bennett PR. Le van Kim C, Colin Y, Warwick RM, Cherif-Zahar B, Fisk NM, Cartron JP. Prenatal determination of fetal RhD type by DNA amplification. N Engl J Med. 1993; 329: 607-10.
43. Colin Y, Cherif-Zahar B, Le van Kim C, Raynal V, van Huffel V, Cartron JP. Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood. 1991; 78: 2747-52.
44. Aubin JT, Le van Kim C, Mouro I, Colin Y, Bignozzi C, Brossard Y, et al. Specificity and sensitivity of RHD genotyping methods by PCR-based DNA amplification. Br J Haematol. 1997; 98: 356-64.
45. Daniels G, Finning K, Martin P, Soothill P. Fetal blood group genotyping from DNA from maternal plasma: an important advance in the management and prevention of haemolytic disease of the fetus and newborn. Vox Sang. 2004; 87: 225-32.
46. Kolialexi A, Tounta G, Mavrou A. Noninvasive fetal RhD genotyping from maternal blood. Expert Rev Mol Diagn. 2010; 10: 285-96.
47. van der Schoot CE, Hahn S, Chitty LS. Non-invasive prenatal diagnosis and determination of fetal Rh status. Semin Fetal Neonatal Med. 2008; 13: 63-8.
48. Finning K, Martin P, Daniels G. A clinical service in the UK to predict fetal Rh (Rhesus) D blood group using free fetal DNA in maternal plasma. Ann NY Acad Sci. 2004; 1022: 119-23.
49. Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002; 42: 1079-85.
50. Daniels G, van der Schoot CE, Olsson ML. Report of the Second International Workshop on molecular blood group genotyping. Vox Sang. 2007; 93: 83-8.
51. Grill S, Banzola I, Li Y, Rekhviashvili T, Legler TJ, Muller SP, et al. High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry. Arch Gynecol Obstet. 2009; 279: 533-7.
52. Finning K, Martin P, Summers J, Massey E, Poole G, Daniels G. Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. BMJ. 2008; 336: 816-8.
53. Norbury G, Norbury CJ. Non-invasive prenatal diagnosis of single gene disorders: how close are we? Semin Fetal Neonatal Med. 2008; 13: 76-83.
54. Gonzalez-Gonzalez MC, Trujillo MJ, Rodriguez de Alba M, Garcia-Hoyos M, Lorda-Sanchez I, Diaz-Recasens J, et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn. 2003; 23: 232-4.
55. Li Y, Holzgreve W, Page-Christiaens GC, Gille JJ, Hahn S. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma-case report. Prenat Diagn. 2004; 24: 896-8.
56. Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem. 2000; 46: 301-2.
57. Gonzalez-Gonzalez MC, Garcia-Hoyos M, Trujillo MJ, Rodriguez de Alba M, Lorda-Sanchez I, Diaz-Recasens J, et al. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn. 2002; 22: 946-8.
58. Nasis O, Thompson S, Hong T, Sherwood M, Radcliffe S, Jackson L, et al. Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis. Clin Chem. 2004; 50: 694-701.
59. Lazaros L, Hatzi E, Bouba I, Paraskevaidis E, Georgiou I. Non-invasive prenatal detection of paternal origin hb lepore in a male fetus at the 7th week of gestation. Fetal Diagn Ther. 2006; 21: 506-9.
60. Fucharoen G, Tungwiwat W, Ratanasiri T, Sanchaisuriya K, Fucharoen S. Prenatal detection of fetal hemoglobin E gene from maternal plasma. Prenat Diagn. 2003; 23: 393-6.
61. Lun FM, Tsui NB, Chan KC, Leung TY, Lau TK, Charoenkwan P, et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci USA. 2008; 105: 19920-5.
62. Page-Christiaens GC, van Der Schoot CE, Haas DE. Use of bi-allelic insertion/deletion polymorphisms as a positive control for fetal genotyping in maternal blood: first clinical experience. Ann NY Acad Sci. 1075; 2006: 123-9.
63. Chow KC, Chiu RW, Tsui NB, Ding C, Lau TK, Leung TN, et al. Mass spectrometric detection of an SNP panel as an internal positive control for fetal DNA analysis in maternal plasma. Clin Chem. 2007; 53: 141-2.
64. Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, Chan LY, et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci USA. 2005; 102: 14753-8.
65. Grunau C, Clark SJ, Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res. 2001; 29: E65-5.
66. Chan KC, Ding C, Gerovassili A, Yeung SW, Chiu RW, Leung TN, et al. Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem. 2006; 52: 2211-8.
67. Hyland CA, Gardener GJ, Davies H, Ahvenainen M, Flower RL, Irwin D, et al. Evaluation of non-invasive prenatal RHD genotyping of the fetus. Med J Aust. 2009; 191: 21-5.
68. Tounta G, Vrettou C, Kolialexi A, Papantoniou N, Destouni A, Tsangaris GT, et al. A multiplex PCR for non-invasive fetal RHD genotyping using cell-free fetal DNA. In Vivo. 2011; in press.
69. Bauer M, Hutterer G, Eder M, Majer S, Leshane E, Johnson KL, et al. A prospective analysis of cell-free fetal DNA concentration in maternal plasma as an indicator for adverse pregnancy outcome. Prenat Diagn. 2006; 26: 831-6.
70. Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update. 2005; 11: 59-67.
71. Hahn S, Huppertz B, Holzgreve W. Fetal cells and cell free fetal nucleic acids in maternal blood: new tools to study abnormal placentation? Placenta. 2005; 26: 515-26.
72. Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YM. Maternal plasma fetal DNA as a marker for preterm labour. Lancet. 1998; 352: 1904-5.
73. 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.
74. Gerovassili A, Nicolaides KH, Thein SL, Rees DC. Cell-free DNA levels in pregnancies at risk of sickle-cell disease and significant ethnic variation. Br J Haematol. 2006; 135: 738-41.
75. Hahn S, Zhong XY, Burk MR, Troeger C, Kang A, Holzgreve W. Both maternal and fetal cell-free DNA in plasma fluctuate. Ann NY Acad Sci. 2001; 945: 141-4.
76. Wataganara T, Peter I, Messerlian GM, Borgatta L, Bianchi DW. Inverse correlation between maternal weight and second trimester circulating cell-free fetal DNA levels. Obstet Gynecol. 2004; 104: 545-50.
77. Lo YM, Lau TK, Zhang J, Leung TN, Chang AM, Hjelm NM, et al. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem. 1999; 45: 1747-51.
78. Zhong XY, Burk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S. Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses. Prenat Diagn. 2000; 20: 795-8.
79. Tong YK, Ding C, Chiu RW, Gerovassili A, Chim SS, Leung TY, et al. Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations. Clin Chem. 2006; 52: 2194-202.
80. Tong YK, Jin S, Chiu RW, Ding C, Chan KC, Leung TY, et al. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem. 2010; 56: 90-8.
81. Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, Heung MM, et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med. 2007; 13: 218-23.
82. Lo YM, Lun FM, Chan KC, Tsui NB, Chong KC, Lau TK, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA. 2007; 104: 13116-21.
83. Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA. 2008; 105: 20458-63.
84. Chiu RW, Sun H, Akolekar R, Clouser C, Lee C, McKernan K, et al. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem. 2010; 56: 459-63.