Non-invasive prenatal diagnosis: On the horizon?

Pharmacogenomics

Volumn 4, Issue 2, 2003, Pages 191-200

  Chiu, Rossa W K ^a   Lo, Dennis Y M ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Circulating DNA; Circulating RNA; Fetal cells; Fetal DNA; Maternal plasma; Non invasive; Plasma DNA; Prenatal diagnosis

Indexed keywords

CELL DNA; RHESUS D ANTIBODY; RNA;

AMNIOCENTESIS; ANEUPLOIDY; BLOOD ANALYSIS; CELL ISOLATION; CHORION VILLUS SAMPLING; CLINICAL RESEARCH; CLINICAL TRIAL; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; FAMILY SIZE; FEMALE; FETUS; FETUS CELL; FETUS RISK; FETUS WASTAGE; GENETIC MARKER; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; MATERNAL BLOOD; MATERNAL PLASMA; NON INVASIVE MEASUREMENT; PRENATAL DIAGNOSIS; RATING SCALE; RELIABILITY; REVIEW; RISK ASSESSMENT; RNA ANALYSIS;

DNA; FEMALE; FETAL BLOOD; FETAL DISEASES; FETUS; GENETIC DISEASES, INBORN; GENOTYPE; HUMANS; MATERNAL-FETAL EXCHANGE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0037340649     PISSN: 14622416     EISSN: None     Source Type: Journal    
DOI: 10.1517/phgs.4.2.191.22628     Document Type: Review

References (99)

1. Ledbetter DH, Zachary JM, Simpson JL et al.: Cytogenetic results from the US Collaborative Study on CVS. Prenat. Diagn. 12(5), 317-345 (1992).
2. Sundberg K, Bang J, Smidt-Jensen S et al.: Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet 350(9079), 697-703 (1997).
3. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Norgaard-Pedersen B: Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1(8493), 1287-1293 (1986).
4. Wald NJ, Watt HC, Hackshaw AK: Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N. Engl. J. Med. 341(7), 461-467 (1999).
5. Cole LA, Cermik D, Bahado-Singh R: Oligosaccharide variants of hCG-related molecules: potential screening markers for Down's syndrome. Prenat. Diagn. 17(12), 1188-1190 (1997).
6. Cuckle HS, Iles RK, Chard T: Urinary beta-core human chorionic gonadotrophin: a new approach to Down's syndrome screening. Prenat. Diagn. 14(10), 953-958 (1994).
7. Schmorl G: Pathologisch-anatomische Untersuchungen ueber Publereklampsie. Vogel, Leipzig, 1893.
8. Lo YMD, Patel P, Wainscoat JS, Sampietro M, Gillmer MD, Fleming KA: Prenatal sex determination by DNA amplification from maternal peripheral blood. Lancet 2(8676), 1363-1365 (1989).
9. Wessman M, Ylinen K, Knuutila S: Fetal granulocytes in maternal venous blood detected by in situ hybridization. Prenat. Diagn. 12(12), 993-1000 (1992).
10. Hamada H, Arinami T, Kubo T, Hamaguchi H, Iwasaki H: Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age. Hum. Genet. 91(5), 427-432 (1993).
11. 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. 61(4), 822-829 (1997).
12. Krabchi K, Gros-Louis F, Yan J et al.: Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques. Clin. Genet. 60(2), 145-150 (2001).
13. Bianchi DW: Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br. J. Haematol. 105(3), 574-583 (1999).
14. Mueller UW, Hawes CS, Wright AE et al.: Isolation of fetal trophoblast cells from peripheral blood of pregnant women. Lancet 336(8709), 197-200 (1990).
15. van Wijk IJ, Griffioen S, Tjoa ML et al.: HLA-G expression in trophoblast cells circulating in maternal peripheral blood during early pregnancy. Am. J. Obstet. Gynecol. 184(5), 991-997 (2001).
16. Lata JA, Tuan RS, Shepley KJ, Mulligan MM, Jackson LG, Smith JB: Localization of major histocompatibility complex class I and II mRNA in human first-trimester chorionic villi by in situ hybridization. J. Exp. Med. 175(4), 1027-1032 (1992).
17. van Wijk IJ, van Vugt JM, Konst AA, Mulders MA, Nieuwint AW, Oudejans CB: Multiparameter in situ analysis of trophoblast cells in mixed cell populations by combined DNA and RNA in situ hybridization. J. Histochem. Cytochem. 43(7), 709-714 (1995).
18. Vona G, Sabile A, Louha M et al.: Isolation by size of epithelial tumor cells : a new method for the immunomorphological and molecular characterization of circulating umor cells. Am. J. Pathol. 156(1), 57-63 (2000).
19. Vona G, Beroud C, Benachi A et al.: Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood. Am. J. Pathol. 160(1), 51-58 (2002).
20. van Wijk IJ, de Hoon AC, Griffioen S et al.: Identification of triploid trophoblast cells in peripheral blood of a woman with a partial hydatidiform molar pregnancy. Prenat. Diagn. 21(13), 1142-1145 (2001).
21. Walknowska J, Conte FA, Grumbach MM: Practical and theoretical implications of fetal-maternal lymphocyte transfer. Lancet 1(7606), 1119-1122 (1969).
22. Bianchi DW, Flint AF, Pizzimenti MF, Knoll JH, Latt SA. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc. Natl. Acad. Sci. USA 87(9), 3279-3283 (1990).
23. Bianchi DW, Zickwolf GK, Yih MC et al.: Erythroid-specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood. Prenat. Diagn. 13(4), 293-300 (1993).
24. Troeger C, Holzgreve W, Hahn S: A comparison of different density gradients and antibodies for enrichment of fetal erythroblasts by MACS. Prenat. Diagn. 19(6), 521-526 (1999).
25. Zheng YL, Demaria M, Zhen D, Vadnais TJ, Bianchi DW: Flow sorting of fetal erythroblasts using intracytoplasmic anti-fetal haemoglobin: preliminary observations on maternal samples. Prenat. Diagn. 15(10), 897-905 (1995).
26. Wang JY, Zhen DK, Falco VM et al.: Fetal nucleated erythrocyte recovery: fluorescence activated cell sorting-based positive selection using anti-gamma globin versus magnetic activated cell sorting using anti-CD45 depletion and anti-gamma globin positive selection. Cytometry 39(3), 224-230 (2000).
27. Mesker WE, Ouwerkerk-van Velzen MC, Oosterwijk JC et al.: Two-colour immunocytochemical staining of gamma and epsilon type haemoglobin in fetal red cells. Prenat. Diagn. 18(11), 1131-1137 (1998).
28. Cheung MC, Goldberg JD, Kan YW: Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat. Genet. 14(3), 264-268 (1996).
29. Di Naro E, Ghezzi F, Vitucci A et al.: Prenatal diagnosis of beta-thalassaemia using fetal erythroblasts enriched from maternal blood by a novel gradient. Mol. Hum. Reprod. 6(6), 571-574 (2000).
30. Hume R, Pazouki S, Hallas A, Burchell A: The ontogeny of the glucose-6-phosphatase enzyme in human embryonic and fetal red blood cells. Early. Hum. Dev. 42(2), 85-95 (1995).
31. Slunga-Tallberg A, el-Rifai W, Keinanen M et al.: Maternal origin of transferrin receptor positive cells in venous blood of pregnant women. Clin. Genet. 49(4), 196-199 (1996).
32. Zheng YL, Zhen DK, DeMaria MA et al.: Search for the optimal fetal cell antibody: results of immunophenotyping studies using flow cytometry. Hum. Genet. 100(1), 35-42 (1997).
33. Slunga-Tallberg A, el-Rifai W, Keinanen M et al.: Maternal origin of nucleated erythrocytes in peripheral venous blood of pregnant women. Hum. Genet. 96(1), 53-57 (1995).
34. Troeger C, Zhong XY, Burgemeister R et al.: Approximately half of the erythroblasts in maternal blood are of fetal origin. Mol. Hum. Reprod. 5(12), 1162-1165 (1999).
35. Holzgreve W, Garritsen HS, Ganshirt-Ahlert D: Fetal cells in the maternal circulation. J. Reprod. Med. 37(5), 410-418 (1992).
36. Busch J, Huber P, Pfluger E, Miltenyi S, Holtz J, Radbruch A: Enrichment of fetal cells from maternal blood by high gradient magnetic cell sorting (double MACS) for PCR-based genetic analysis. Prenat. Diagn. 14(12), 1129-1140 (1994).
37. Oosterwijk JC, Mesker WE, Ouwerkerkvan Velzen MC et al.: Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment. Prenat. Diagn. 18(10), 1082-1085 (1998).
38. Wachtel SS, Sammons D, Manley M et al.: Fetal cells in maternal blood: recovery by charge flow separation. Hum. Genet. 98(2), 162-166 (1996).
39. Wachtel SS, Sammons D, Twitty G et al.: Charge flow separation: quantification of nucleated red blood cells in maternal blood during pregnancy. Prenat. Diagn. 18(5), 455-463 (1998).
40. Tanke HJ, Oosterwijk JC, Mesker We et al.: Detection of 'rare event' fetal erythroblasts in maternal blood using automated microscopy. Early Hum. Dev. 47, S89-93 (1996).
41. Schutze K, Becker I, Becker KF et al.: Cut out or poke in - the key to the world of single genes: laser micromanipulation as a valuable tool on the look-out for the origin of disease. Genet. Anal. 14(1), 1-8 (1997).
42. Tutschek B, Reinhard J, Kogler G, Wernet P, Niederacher D: Clonal culture of fetal cells from maternal blood. Lancet 356(9243), 1736-1737 (2000).
43. Campagnoli C, Fisk N, Overton T, Bennett P, Watts T, Roberts I: Circulating hematopoietic progenitor cells in first trimester fetal blood. Blood 95 (6), 1967-1972 (2000).
44. Valerio D, Aiello R, Altieri V, Malato AP, Fortunato A, Canazio A: Culture of fetal erythroid progenitor cells from maternal blood for non-invasive prenatal genetic diagnosis. Prenat. Diagn. 16(12), 1073-1082 (1996).
45. Huber K, Bittner J, Worofka B et al.: Quantitative FISH analysis and in vitro suspension cultures of erythroid cells from maternal peripheral blood for the isolation of fetal cells. Prenat. Diagn. 20(6), 479-486 (2000).
46. Zimmermann B, Holzgreve W, Zhong XY, Hahn S: Inability to clonally expand fetal progenitors from maternal blood. Fetal. Diagn. Ther. 17(2), 97-100 (2002).
47. Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA: Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc. Natl. Acad. Sci. USA 93(2), 705-708 (1996).
48. Bianchi DW: Fetomaternal cell trafficking: a new cause of disease? Am. J. Med. Genet. 91(1), 22-28 (2000).
49. Nelson JL: Microchimerism: expanding new horizon in human health or incidental remnant of pregnancy? Lancet 358(9298), 2011-2012 (2001).
50. de la Cruz F, Shifrin H, Elias S et al.: Prenatal diagnosis by use of fetal cells isolated from maternal blood. Am. J. Obstet. Gynecol. 173(4), 1354-1355 (1995).
51. Sekizawa A, Saito H: Prenatal screening of single-gene disorders from maternal blood. Am. J. Pharmacogenomics 1(2), 111-117 (2001).
52. Bianchi DW, Simpson JL, Jackson LG et al.: Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. Prenat. Diagn. 22(7), 609-615 (2002).
53. Hahn S, Holzgreve W. Prenatal diagnosis using fetal cells and cell-free fetal DNA in maternal blood: what is currently feasible? Clin. Obstet. Gynecol. 45(3), 649-656 (2002).
54. Chen XQ, Stroun M, Magnenat JL et al.: Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat. Med. 2(9), 1033-1035 (1996).
55. Nawroz H, Koch W, Anker P, Stroun M, Sidransky D: Microsatellite alterations in serum DNA of head and neck cancer patients. Nat. Med. 2(9), 1035-1037 (1996).
56. Lo YMD, Corbetta N, Chamberlain PF et al.: Presence of fetal DNA in maternal plasma and serum. Lancet 350(9076), 485-487 (1997).
57. Lo YMD, Tein MS, Lau TK et al.: Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet. 62(4), 768-775 (1998).
58. Lo YMD, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM: Rapid clearance of fetal DNA from maternal plasma. Am. J. Hum. Genet. 64(1), 218-224 (1999).
59. Chiu RWK, Poon LLM, Lau TK, Leung TN, Wong EMC, Lo YMD: Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma. Clin. Chem. 47(9), 1607-1613. (2001).
60. Invernizzi P, Biondi ML, Battezzati PM et al.: Presence of fetal DNA in maternal plasma decades after pregnancy. Hum. Genet. 110(6), 587-591 (2002).
61. Lambert NC, Lo YMD, Erickson TD et al.: Male microchimerism in healthy women and women with scleroderma: cells or circulating DNA? A quantitative answer. Blood 100(8), 2845-2851 (2002).
62. Costa JM, Benachi A, Gautier E: New strategy for prenatal diagnosis of X-linked disorders. N. Engl. J. Med. 346(19), 1502 (2002).
63. 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 42(8), 1079-1085 (2002).
64. Sekizawa A, Kondo T, Iwasaki M et al.: Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin. Chem. 47(10), 1856-1858 (2001).
65. Chiu RWK, Lo YMD: Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis. Expert Rev. Mol. Diagn. 2(1), 32-40 (2002).
66. Costa JM, Giovangrandi Y, Ernault P et al.: Fetal RHD genotyping in maternal serum during the first trimester of pregnancy. Br. J. Haematol. 119(1), 255-260 (2002).
67. Chiu RWK, Lau TK, Cheung PT, Gong ZQ, Leung TN, Lo YMD: Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin. Chem. 48(5), 778-780 (2002).
68. Chiu RWK, Lau TK, Leung TN, Chow KCK, Chui DHK, Lo YMD: Prenatal exclusion of β-thalassaemia major by examination of maternal plasma. Lancet 360(9338), 998-1000 (2002).
69. Gonzalez-Gonzalez MC, Garcia-Hoyos M, Trujillo MJ et al.: Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat. Diagn. 22(10), 946-948 (2002).
70. Lo YMD, Leung TN, Tein MS et al.: Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin. Chem. 45(2), 184-188 (1999).
71. Zhong XY, Laivuori H, Livingston JC et al.: Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am. J. Obstet. Gynecol. 184(3), 414-419 (2001).
72. Leung TN, Zhang J, Lau TK, Chan LY, Lo YMD: Increased maternal plasma fetal DNA concentrations in women who eventually develop preeclampsia. Clin. Chem. 47(1), 137-139 (2001).
73. Zhong XY, Holzgreve W, Hahn S: The levels of circulatory cell free fetal DNA in maternal plasma are elevated prior to the onset of preeclampsia. Hypertens. Pregnancy 21(1), 77-83 (2002).
74. Swinkels DW, de Kok JB, Hendriks JC, Wiegerinck E, Zusterzeel PL, Steegers EA: Hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome as a complication of preeclampsia in pregnant women increases the amount of cell-free fetal and maternal DNA in maternal plasma and serum. Clin. Chem. 48(4), 650-653 (2002).
75. Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YMD: Maternal plasma fetal DNA as a marker for preterm labour. Lancet 352(9144), 1904-1905 (1998).
76. Lau TK, Lo KW, Chan LY, Leung TY, Lo YMD: Cell-free fetal deoxyribonucleic acid in maternal circulation as a marker of fetal-maternal hemorrhage in patients undergoing external cephalic version near term. Am. J. Obstet. Gynecol. 183(3), 712-716 (2000).
77. Sekizawa A, Jimbo M, Saito H et al.: Increased cell-free fetal DNA in plasma of two women with invasive placenta. Clin. Chem. 48(2), 353-354 (2002).
78. Sekizawa A, Sugito Y, Iwasaki M et al.: Cell-free fetal DNA is increased in plasma of women with hyperemesis gravidarum. Clin. Chem. 47(12), 2164-2165 (2001).
79. Zhong XY, Holzgreve W, Li JC, Aydinli K, Hahn S: High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report. Prenat. Diagn. 20(10), 838-841 (2000).
80. Lo YMD, Lau TK, Zhang J et al.: Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin. Chem. 45(10), 1747-1751 (1999).
81. 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. 20(10), 795-798 (2000).
82. Ohashi Y, Miharu N, Honda H, Samura O, Ohama K: Correlation of fetal DNA and human chorionic gonadotropin concentrations in second-trimester maternal serum. Clin. Chem. 48(2), 386-388 (2002).
83. Farina A, Caramelli E, Concu M et al.: Testing normality of fetal DNA concentration in maternal plasma at 10-12 completed weeks' gestation: a preliminary approach to a new marker for genetic screening. Prenat. Diagn. 22(2), 148-152 (2002).
84. Poon LLM, Leung TN, Lau TK, Chow KCK, Lo YMD: Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem. 48(1), 35-41 (2002).
85. Butler MG, Tilburt J, DeVries A et al.: Comparison of chromosome telomere integrity in multiple tissues from subjects at different ages. Cancer Genet. Cytogenet. 105(2), 138-144 (1998).
86. Krejci K, Koch J: Improved detection and comparative sizing of human chromosomal telomeres in situ. Chromosoma. 107(3), 198-203 (1998).
87. van Wijk IJ, de Hoon AC, Jurhawan R et al.: Detection of apoptotic fetal cells in plasma of pregnant women. Clin. Chem. 46(5), 729-731 (2000).
88. Poon LLM, Leung TN, Lau TK, Lo YMD: Prenatal detection of fetal Down's syndrome from maternal plasma. Lancet 356(9244), 1819-1820 (2000).
89. Bischoff FZ, Hahn S, Johnson KL et al.: Intact fetal cells in maternal plasma: are they really there? Lancet 361(9352), 139-140 (2003).
90. Lo YMD, Poon LLM: The ins and outs of fetal DNA maternal plasma. Lancet 361(9353), 193-194 (2003).
91. Zhong XY, Holzgreve W, Hahn S: Cell-free fetal DNA in the maternal circulation does not stem from the transplacental passage of fetal erythroblasts. Mol. Hum. Reprod. 8(9), 864-870 (2002).
92. Poon LLM, Leung TN, Lau TK, Lo YMD: Presence of fetal RNA in maternal plasma. Clin. Chem. 46(11), 1832-1834 (2000).
93. Anker P, Stroun M: Progress in the knowledge of circulating nucleic acids: plasma RNA is particle-associated. Can it become a general detection marker for a cancer blood test? Clin. Chem. 48(8), 1210-1211 (2002).
94. Tsui NBY, Ng EKO, Lo YMD: Stability of endogenous and added RNA in blood specimens, serum, and plasma. Clin. Chem. 48(10), 1647-1653 (2002).
95. Ng EKO, Tsui NBY, Lam NYL et al.: Presence of filterable and nonfilterable mRNA in the plasma of cancer patients and healthy individuals. Clin. Chem. 48(8), 1212-1217 (2002).
96. Adinolfi M, Sherlock J: Fetal cells in transcervical samples at an early stage of gestation. J. Hum. Genet. 46(3), 99-104 (2001).
97. Daryani YP, Barker GH, Penna LK, Patton MA. Transcervical sampling as a means of detection of fetal cells during the first trimester of pregnancy. Am. J. Obstet. Gynecol. 183(3), 752-754 (2000).
98. Botezatu I, Serdyuk O, Potapova G et al.: Genetic analysis of DNA excreted in urine: a new approach for detecting specific genomic DNA sequences from cells dying in an organism [see comments]. Clin. Chem. 46(8 Pt 1), 1078-1084 (2000).
99. Zamerowski ST, Lumley MA, Arreola RA, Dukes K, Sullivan L: Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood. Genet. Med. 3(4), 301-309 (2001).