1. Urbanova M, Plzak J, Strnad H, Betka J. Circulating nucleic acids as a new diagnostic tool. Cellular and Molecular Biology Letters 2010;15(2):242-59.
2. Lo YMD, Corbetta N, Chamberlian PF, Rai V, Sargent IL, Redman CW. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7.
3. Botezatu J, Serdyuk O, Potapova G, Shelepov V, Alechina R, Molyaka Y, et al. Genetic analysis of DNA excreted in urine: a new approach for detecting specific genomic DNA sequences from cells dying in an organism. Clin Chem 2000;46:1078-84.
4. Hui L, Bianchi DW. Cell-free fetal nucleic acids in amniotic fluid. Hum Reprod Update 2010;17:362-71.
5. Lo YM, Leung TN, Tein MS, Sargent IL, Zhang J, Lau TK, et al. Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin Chem 1999;45:184-8.
6. Bianchi DW. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta 2004;25;93-101.
7. Guilbert 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.
8. Wataganara T, Chen AY, LeShane ES, Sullivan LM, Borgatta L, Bianchi DW, et al. Cell-free fetal DNA levels in maternal plasma after elective first-trimester termination of preganancy. Fertil Steril 2004;81:638-44.
9. Zhong XY, Holzgreve W, Hahn S. Circulatory fetal and maternal DNA in pregnancies at risk and those affected by preeclampsia. Ann N Y Acad Sci 2001;945:138-40.
10. Zeybek YG, Günel T, Benian A, Aydınlı K, Kaleli S. Clinical evaluations of cffDNA quantities in preeclamptic pregnancies. The Journal of Obstetrics and Gynaecology 2012;DOI: 10.1111/j.1447-0756.2012.02011.
11. Chiu RW, Lui WB, Cheung N, Kumta N, Farina A, Banzola I, et al. Time profile of appereance and disappereance of circulating placenta-drived mRNA in maternal plasma. Clin Chem 2006;52:313-6.
12. Edlow AG, Bianchi DW. Tracking fetal development through molecular analysis of maternal biofluids. Biochimica et Biophysica Acta 2012;doi:10.1016/j.bbadis.2012.04005.
13. Maron JL, Bianchi DW. Prenatal diagnosis using cell free nucleic acids in maternal body fluids: a decate of progress. Am J Med Genet C Semin Med Genet 2007;145:5-17.
14. Ng EK, Tsui NB, Lau TK, Leung TN, Chiu RW, Panesar NS, et al. mRNA of placental orijin is readily detectable in maternal plasma. Proc Natl Acad Sci USA 2003;100:4748-53.
15. Banerjee M, Misra D. Fetal nucleic acids in maternal circulation: A genetic resource for noninvasive prenatal diagnosis. ISRN Genetics Volume, 2013; Article ID 961293, 10 pages.
16. Fernando MR, Chen K, Norton S, Krzyzanowski G, Bourne D, Hunsley B, et al. A new methodology to preserve the original proportion and integrity of cell-free fetal DNA in maternal plasma during sample processing and storage. Prenat Diagn 2010;30:418-24.
17. Barrett AN, Zimmermann BG, Wang D, Holloway A, Chitty LS. Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield. PLoS One 2011;6:25202.
18. Wong D, Moturi S, Angkachatchai V, Mueller R, DeSantis G, van den Boom D, et al. Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing. Clinical Biochemistry 2013;46:1099-104.
19. Günel T. Gen anlatımının kantitatif analizi Real-Time PCR. Türkiye Klinikleri Tıp Bilimleri 2007;27(5):763-7.
20. Günel T, Ermiş H, Aydınlı K. Real-Time quantitative PCR for detection cell free fetal DNA, prenatal diagnosis - morphology scan and invasive methods, Richard Kwong Wai Choy and Tak Yeung Leung (Ed.), 2012; ISBN: 978-953-51-0614-2.
21. 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.
22. 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 U S A 2007;104:3116-21.
23. Lun FM, Chiu RW, Chan KC, Leung TY, Lau TK, Lo YM. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54:1664-72.
24. 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 U S A 2008;105:19920-5.
25. Tsui NB, Kadir RA, Chan KC, Chi C, Mellars G, Tuddenham EG, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011;117:3684-91.
26. Ge Q, Bai Y, Liu Z, Liu Q, Yan L, Lu Z. Detection of fetal DNA in maternal plasma by microarray coupled with emulsions PCR. Clin Chim Acta 2006;369:82-8.
27. Zimmermann B G, Grill S, Holzgreve W, Zhong XY, Jackson LG, Hahn S. Digital PCR: a powerful new tool for noninvasive prenatal diagnosis? Prenat Diagn 2008;28:1087-93.
28. Hahn S, Lapaire O, Tercanli S, Kolla V, Hosli I. Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met? Expert Rev Mol Med 2011;13:16.
29. Fan HC, Quake SR. Detection of aneuploidy with digital polymerase chain reaction. Anal Chem 2007;79:7576-9.
30. Shinawi M, Cheung SW. The array CGH and its clinical applications. Drug Discov Today 2008;13:760-70.
31. Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes, Chromosomes and Cancer 1997;20:399-407.
32. Park SJ, Jung EH, Ryu RS, Kang HW, Ko JM, Kim HJ, et al. Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases. Mol Cytogenet 2011;4:12.
33. Liu J, Bernier F, Julie L, Lowry RB, Chernos J. Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports. Genet Res Int 2011;2011:976398. doi:10.4061/2011/976398.
34. Elisavet AP, Philippos C. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. The Cyprus Institute of Neurology and Genetics 2012; PO Box 23462, 1683, Nicosia,
35. Qinya G, Yunfei B, Dihgdong Z. Microarray Detection of Fetal DNA Levels in Maternal Plasma 2007;40:1540-8.
36. Sri Venkateswara University, Current Knowledge on Microarray Technology, Tropical Journal of Pharmaceutical Research February 2012;11:153-64.
37. Choi S. DNA chips and microarray analysis, Handbook of fungal biotechnology. Marcel Dekker, Inc. (D. Arora, Ed) 2004.
38. Broer J. Advanced microarray technologies for clinical diagnostics. A catalogue record is available from the Eindhoven University of Technology library, 2011; ISBN: 978-94-6191-088-2.
39. Tsui NB, Chim SS, Chiu RW, Lau TK, Ng EK, Leung TN, et al. Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling, J Med Genet 2004;41:461-7.
40. 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.
41. Larrabee PB, Johnson KL, Lai C, Ordovas J, Cowan JM, Tantravahi U, et al. Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid. JAMA 2005;293:836-42.
42. Slonim DK, Koide K, Johnson KL, Tantravahi U, Cowan JM, Jarrah Z, et al. Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses. Proc Natl Acad Sci U S A 2009;106:9425-9.
43. Miura K, Miura S, Yamasaki K, Yoshida A, Yoshiura K, Nakayama D. Increased levels of cell-free placenta mRNA in a subgroup of placenta previa that needs hysterectomy. Prenat Diagn 2008;28:805-9.
44. Ng EK, Leung TN, Tsui NB, Lau TK, Panesar NS, Chiu RW, et al. The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia. Clinical Chemistry 2003;49:727-31.
45. Günel T, Zeybek YG, Akçakaya P, Kalelioğlu I, Benian A, Ermiş H, et al. Serum microRNA expression in pregnancies by preeclampsia. Genet Mol Res 2011;10:4034-40.
46. 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 U S A 2008;105:16266-71.
47. 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 U S A 2008;105:20458-63.
48. Lander ES. Initial impact of the sequencing of the human genome. Nature 2011;470:187-97.
49. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.
50. 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 U S A, 2008;105:16266-71.
51. Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012;32:3-9.
52. Günel T, Kalelioğlu İ, Ermiş H, Aydınlı K. Detection of fetal RhD gene from maternal blood. J Turk Ger Gynecol Assoc 2010;11:82-5.
53. Günel T, Kalelioglu İ, Gedikbaşı A, Ermiş H, Aydınlı K. Detection of fetal RHD pseudogene (RHDΨ) and hybrid RHD-CE-Ds from RHD-negative pregnantwomen with a free DNA fetal kit. Genet Mol Res 2011;10:2653-7.
54. Günel T, Kalelioğlu İ, Sürmeli Y, Türken B, Ermiş H, Aydınlı K. Comparison of real-time polymerase chain reaction assay methods for detection of RHD gene in amniotic fluid. J Nat Sci Biol Med 2011;2:193-7.
55. Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 2011;80:68-75.
56. Dündar YE. Anne kanında fetal nükleik asitlerle prenatal tanı uygulaması, 2010;41.
57. Norbury G, Norbury CJ. Non-invasive prenatal diagnosis of single gene disorders: How close are we? Seminars in Fetal and Neonatal Medicine 2008;13:76-83.
58. HbVar: A database of Human Hemoglobin Variants and Thalassemias. Erişim: (http://globin.bx.psu.edu/cgi-bin/hbvar/counter) 2010. Erişim tarihi: 22.03.2010.
59. Cheung MC, Goldberg JD, Kan YW. Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nature Genetics 1996;145:264-8.
60. Naro DE, Ghezzi F, Vitucci A, Tannoia N, Campanale D, D’Addario V, et al. Prenatal diagnosis of β-thalassemia using fetal erithroblasts enriched from maternal blood by a novel gradient. Molecular Human Reproduction 2000;6:571-4.
61. Lee T, LeShane ES, Messerlain GM, Canick JA, Farina A, Heber WW, et al. Down syndrome and cell free fetal DNA in archived maternal serum. Am J Obstet Gynecol 2002;187:1217-21.
62. Spencer K, de Kok DB, Swinkels DW. Increased total cell free DNA in the serum of pregnant women carrying a fetus affected by trizomy 21. Prenat.Diagn 2003;23:580-3.
63. 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 trizomy 21. Clin Chem 1999;45:1747-51.
64. Wataganara T, LeShane ES, Farina A, Messerlian GM, Lee T, Canick JA, et al. Maternal serum cell free fetal DNA levels are increased in case of trizomy 13 but not trizomy 18. Hum Genet 2003;12:204-8.
65. Ohashi Y, Miharu N, Honda H, Samura O, Ohama K. Quantitation of fetal DNA in maternal serum in normal and aneuploid pregnancies. Hum Genet 2001;108:123-7.
66. Farina A, LeShane ES, Lambert-Messerlian GM, Canick JA, Lee T, Neveux LM, et al. Evaluation of cell free fetal DNA as a second trimester maternal serum marker of Down syndrome pregnancy. Clin Chem 2003;49:239-242.
67. Herman JG, Graff JR, Myohannen S, Nelkin BD, Baylin SB. Methylation specific PCR: a novel PCR assay for methylation status of CpG slands. Proc Natl Acad Sci USA 1996;93:9821-6.
68. Poon LL, Leung TN, Lau TK, Chow KC, Lo YM. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem 2002;48:35-41.
69. Tong YK, Chiu RW, Akolekar R, Leung TY, Lau TK, Nicolaides KH, et al. Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker. PLoS One 2011;5:15244.
70. 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 U S A 2005;102:14753-8.
71. 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.
72. Old RW, Crea F, Puszyk W, Hulten MA. Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reprod Biomed Online 2007;15:227-35.
73. Oudejans CB. Noncoding RNA and DNA as biomarkers: toward an epigenetic fetal barcode for use in maternal plasma. Clin Chem 2008;54:456-7.
74. Rakyan VK, Down TA, Thorne NP, Flicek P, Kulesha E, Graf S, et al. An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs). Genome Res 2008;18:1518-29.
75. Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, et al. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol 2009;174:1609-18.
76. Grunau C, Clark SJ, Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res 2001;29:65-5.
77. 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.
78. 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 U S A 2008;105:16266-71.
79. 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;204:201-11.
80. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011:342:7401.
81. Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011:57:1042-9.
82. Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011;6:21791.
83. 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;13:913-20.
84. 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;14:296-305.
85. Benn P, Borrell A, Crossley J, Cuckle H, Dugoff L, Gross S, et al. Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 2011;31:519-22.