REVIEW

Cell-free DNA as a Clinical Indicator in Maternal Blood
Anne Kanında Klinik Gösterge Olarak Serbest DNA
Received Date : 16 Feb 2019
Accepted Date : 22 Aug 2019
Doi: 10.25179/tjem.2019-65572 - Makale Dili: EN
Turk J Endocrinol Metab 2019;23:174-180
Bu makale, CC BY-NC-SA altında lisanslanmış açık erişim bir makaledir.
ABSTRACT
As many expensive and invasive procedures are used for the diagnosis or follow-up of clinical conditions, the measurement of cell-free DNA is a promising, noninvasive method, which considers using blood, follicular fluid, or seminal fluid. This method is used to determine chromosomal abnormalities, genetic disorders, and indicators of some diseases such as polycystic ovary syndrome, pre-eclampsia, and some malignancies. Cell-free DNA, which are DNA fragments outside the nucleus, originates from an apoptotic process. However, to be used as a marker for the previously mentioned diseases is still under investigation. We discuss some aspects of using cell-free DNA measurements as an indicator or marker for pathological conditions.
ÖZET
Klinik durumların tanısı veya takibinde birçok pahalı ve invaziv prosedür kullanılır iken, serbest DNA ölçümü; kan, foliküler sıvı veya seminal sıvının kullanıldığı invaziv olmayan ve umut verici bir yöntemdir. Bu yöntem kromozomal anormallikleri, genetik bozuklukları ve polikistik over sendromu, preeklampsi ve bazı maligniteler gibi birtakım hastalıkların göstergelerini belirlemek için kullanılmaktadır. Çekirdeğin dışındaki DNA parçaları olan serbest DNA, apoptotik bir süreçten kaynaklanmaktadır. Bununla birlikte, daha önce sözü edilen hastalıkların bir belirteci olarak kullanılmak üzere hâlen araştırılmaktadır. Bu çalışmada, patolojik durumlar için bir gösterge veya belirteç olarak serbest DNA ölçümlerini kullanmanın bazı yönlerinin tartışılması amaçlanmıştır.
KAYNAKLAR
  1. Mandel P, Metais P. Les acides nucléiques du plasma sanguin chez l'homme. C R Seances Soc Biol Fil. 1948;142:241-243. [PubMed]
  2. Volik S, Alcaide M, Morin RD, Collins C. Cell-free DNA (cfDNA): clinical significance and utility in cancer shaped by emerging technologies. Mol Cancer Res. 2016;14:898-908. [Crossref] [PubMed]
  3. Scientific Graphic Illustration. Cell Free DNA; 2017. [Crossref]
  4. Schwarzenbach H, Hoon DS, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011;11:426-437. [Crossref] [PubMed]
  5. Chou SY, Grossman M, Saffer H. An economic analysis of adult obesity: results from the Behavioral Risk Factor Surveillance System. J Health Econ. 2004;23:565-587. [Crossref] [PubMed]
  6. Pisetsky DS, Fairhurst AM. The origin of extracellular DNA during the clearance of dead and dying cells. Autoimmunity. 2007;40:281-284. [Crossref] [PubMed]
  7. Holdenrieder S, Stieber P, Bodenmüller H, Busch M, Von Pawel J, Schalhorn A, Nagel D, Seidel D. Circulating nucleosomes in serum. Ann N Y Acad Sci. 2001;945:93-102. [Crossref] [PubMed]
  8. Swaminathan R, Butt AN. Circulating nucleic acids in plasma and serum: recent developments. Ann N Y Acad Sci. 2006;1075:1-9. [Crossref] [PubMed]
  9. Surani A, Poterlowicz K. Circulating tumour DNA: a minimally invasive biomarker for tumour detection and stratification. Br J Pharm. 2016;1:3-18. [Crossref]
  10. Cedergren MI. Maternal morbid obesity and the risk of adverse pregnancy outcome. Obstet Gynecol. 2004;103:219-224. [Crossref] [PubMed]
  11. Vora NL, Johnson KL, Basu S, Catalano PM, Hauguel-De Mouzon S, Bianchi DW. A multifactorial relationship exists between total circulating cell-free DNA levels and maternal BMI. Prenat Diagn. 2012;32:912-914. [Crossref] [PubMed] [PMC]
  12. Haghiac M, Vora NL, Basu S, Johnson KL, Presley L, Bianchi DW, Haugel-de Mouzon S. Increased death of adipose cells, a path to release cell-free DNA into systemic circulation of obese women. Obesity (Silver Spring). 2012;20:2213-2219. [Crossref] [PubMed] [PMC]
  13. Escobar-Morreale HF. Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment. Nat Rev Endocrinol. 2018;14:270-284. [Crossref] [PubMed]
  14. Traver S, Scalici E, Mullet T, Molinari N, Vincens C, Anahory T, Hamamah S. Cell-free DNA in human follicular microenvironment: new prognostic biomarker to predict in vitro fertilization outcomes. PloS One. 2015;10:e0136172. [Crossref] [PubMed] [PMC]
  15. Scalici E, Traver S, Molinari N, Mullet T, Monforte M, Vintejoux E, Hamamah S. Cell-free DNA in human follicular fluid as a biomarker of embryo quality. Hum Reprod. 2014;29:2661-2669. [Crossref] [PubMed]
  16. Christiansen SC, Vanky E, Klungland H, Stafne SN, Mørkved S, Salvesen KÅ, Sæther M, Carlsen SM. The effect of exercise and metformin treatment on circulating free DNA in pregnancy. Placenta. 2014;35:989-993. [Crossref] [PubMed]
  17. Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, Chandrasekharan S. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health. 2015;7:113-126. [Crossref] [PubMed] [PMC]
  18. Wax JR, Chard R, Litton C, Pinette MG. Prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol. 2015;213:879-880. [Crossref] [PubMed]
  19. Gravina S, Sedivy JM, Vijg J. The dark side of circulating nucleic acids. Aging Cell. 2016;15:398-399. [Crossref] [PubMed] [PMC]
  20. van Boeckel SR, Davidson DJ, Norman JE, Stock SJ. Cell-free fetal DNA and spontaneous preterm birth. Reproduction. 2018;155:R137-R145. [Crossref] [PubMed] [PMC]
  21. Baird PA, Anderson TW, Newcombe HB, Lowry RB. Genetic disorders in children and young adults: a population study. Am J Hum Genet. 1988;42:677-693. [PubMed]
  22. Bustamante-Aragones A, Gonzalez-Gonzalez C, de Alba MR, Ainse E, Ramos C. Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art. Expert Rev Mol Diagn. 2010;10:197-205. [Crossref] [PubMed]
  23. Finning KM, Chitty LS. Non-invasive fetal sex determination: impact on clinical practice. Semin Fetal Neonatal Med. 2008;13:69-75. [Crossref] [PubMed]
  24. Ryan A, Baner J, Demko Z, Hill M, Sigurjonsson S, Baird ML, Rabinowitz M. Informatics-based, highly accurate, noninvasive prenatal paternity testing. Genet Med. 2012;15:473-477. [Crossref] [PubMed] [PMC]
  25. Traeger-Synodinos J. Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases. Mol Aspects Med. 2006;27:176-191. [Crossref] [PubMed]
  26. Papasavva T, Martin P, Legler TJ, Liasides M, Anastasiou G, Christofides A, Christodoulou T, Demetriou S, Kerimis P, Kontos C, Leontiades G, Papapetrou D, Patroclos T, Phylaktou M, Zottis N, Karitzie E, Pavlou E, Kountouris P, Veldhuisen B, van der Schoot E, Kleanthous M. Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus. BMC Res Notes. 2016;9:198. [Crossref] [PubMed] [PMC]
  27. Zhang B, Lu BY, Yu B, Zheng FX, Zhou Q, Chen YP, Zhang XQ. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Int Med Res. 2017;45:621-630. [Crossref] [PubMed] [PMC]
  28. Mersy E, Smits LJ, van Winden LA, de Die-Smulders CE; South-East Netherlands NIPT Consortium, Paulussen AD, Macville MV, Coumans AB, Frints SG. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update. 2013;19:318-329. [Crossref] [PubMed]
  29. Wataganara T, LeShane ES, Farina A, Messerlian GM, Lee T, Canick JA, Bianchi DW. Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18. Hum Genet. 2003;112:204-208. [PubMed]
  30. Seval MM, Karabulut HG, Tükün A, Koç A. Cell free fetal DNA in the plasma of pregnant women with preeclampsia. Clin Exp Obstet Gynecol. 2015;42:787-791. [PubMed]
  31. Surdo M, Biricik A, Bono S, Minasi M, Cursio E, Greco E, Cotroneo E, Fiorentino F, Spinella F. Embryonic cell free DNA (cFDNA) as a tool for non-invasive preimplantation genetic screening and diagnosis. Fertil Steril. 2016;106:e145. [Crossref]
  32. Czamanski-Cohen J, Sarid O, Cwikel J, Douvdevani A, Levitas E, Lunenfeld E, Har-Vardi I. Cell-free DNA and telomere length among women undergoing in vitro fertilization treatment. J Assist Reprod Genet. 2015;32:1697-1703. [Crossref] [PubMed] [PMC]
  33. Traver S, Assou S, Scalici E, Haouzi D, Al-Edani T, Belloc S, Hamamah S. Cell-free nucleic acids as non-invasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy. Hum Reprod Update. 2014;20:905-923. [Crossref] [PubMed]
  34. Atamaniuk J, Kopecky C, Skoupy S, Säemann MD, Weichhart T. Apoptotic cell-free DNA promotes inflammation in haemodialysis patients. Nephrol Dial Transplant. 2012;27:902-905. [Crossref] [PubMed]
  35. Czamanski-Cohen J, Sarid O, Cwikel J, Lunenfeld E, Douvdevani A, Levitas E, Har-Vardi I. Increased plasma cell-free DNA is associated with low pregnancy rates among women undergoing IVF-embryo transfer. Reprod Biomed Online. 2013;26:36-41. [Crossref] [PubMed]
  36. Kassim HR, AL-Omary HL, Ahmed SJ. Cell free DNA in follicular fluid and embryo quality in poly cystic ovarian syndrome of Iraqi women. IOSR-JPBS. 2018;13:5-9.
  37. Hazout A, Montjean D, Cassuto NG, Belloc S, Dalleac A, Tesarik J, Benkhalifa M. Free circulating nucleic acids and infertility. JGWH. 2018;11:1-11. [Crossref]
  38. Czamanski-Cohen J, Sarid O, Cwikel J, Levitas E, Lunenfeld E, Douvdevani A, Har-Vardi I. Decrease in cell free DNA levels following participation in stress reduction techniques among women undergoing infertility treatment. Arch Womens Ment Health. 2014;17:251-253. [Crossref] [PubMed]
  39. Zhou Q, Li W, Leng B, Zheng W, He Z, Zuo M, Chen A. Circulating cell free DNA as the diagnostic marker for ovarian cancer: a systematic review and meta-analysis. PloS One. 2016;11:e0155495. [Crossref] [PubMed] [PMC]
  40. Kamat AA, Baldwin M, Urbauer D, Dang D, Han LY, Godwin A, Karlan BY, Simpson JL, Gershenson DM, Coleman RL, Bischoff FZ, Sood AK. Plasma cell-free DNA in ovarian cancer: an independent prognostic biomarker. Cancer. 2010;116:1918-1925. [Crossref] [PubMed] [PMC]
  41. Fan JH, Chen J, Sze SH. Identifying complexes from protein interaction networks according to different types of neighborhood density. J Comput Biol. 2012;19:1284-1294. PMID: [Crossref] [PubMed] [PMC]
  42. Liggett TE, Melnikov A, Yi Q, Replogle C, Hu W, Rotmensch J, Kamat A, Sood AK, Levenson V. Distinctive DNA methylation patterns of cell-free plasma DNA in women with malignant ovarian tumors. Gynecol Oncol. 2011;120:113-120. [Crossref] [PubMed] [PMC]
  43. Kamat AA, Bischoff FZ, Dang D, Baldwin MF, Han LY, Lin YG, Merritt WM, Landen CN Jr, Lu C, Gershenson DM, Simpson JL, Sood AK. Circulating cell-free DNA: a novel biomarker for response to therapy in ovarian carcinoma. Cancer Biol Ther. 2006;5:1369-1374. [Crossref] [PubMed]
  44. Scharfe-Nugent A, Corr SC, Carpenter SB, Keogh L, Doyle B, Martin C, Fitzgerald KA, Daly S, O'Leary JJ, O'Neill LA. TLR9 provokes inflammation in response to fetal DNA: mechanism for fetal loss in preterm birth and preeclampsia. J Immunol. 2012;188:5706-5712. [Crossref] [PubMed]
  45. Celec P, Vlková B, Lauková L, Bábíčková J, Boor P. Cell-free DNA: the role in pathophysiology and as a biomarker in kidney diseases. Expert Rev Mol Med. 2018;20:e1. [Crossref] [PubMed]
  46. Yan L, Chen Y, Zhou J, Zhao H, Zhang H, Wang G. Diagnostic value of circulating cell-free DNA levels for hepatocellular carcinoma. Int J Infect Dis. 2018;67:92-97. [Crossref] [PubMed]
  47. Carp HJ, Selmi C, Shoenfeld Y. The autoimmune bases of infertility and pregnancy loss. J Autoimmun. 2012;38:J266-J274. [Crossref] [PubMed]
  48. Frank MO. Circulating cell-free DNA differentiates severity of inflammation. Biol Res Nurs. 2016;18:477-488. [Crossref] [PubMed]
  49. Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update. 2008;15:139-151. [Crossref] [PubMed]
  50. Lee TJ, Rolnik DL, Menezes MA, McLennan AC, da Silva Costa F. Cell-free fetal DNA testing in singleton IVF conceptions. Hum Reprod. 2018;33:572-578. [Crossref] [PubMed]
  51. Krantz DA, Hallahan TW, Carmichael JB. Screening for open neural tube defects. Clin Lab Med. 2016;36:401-406. [Crossref] [PubMed]
  52. Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ, Waoner RJ. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589-1597. [Crossref] [PubMed]
  53. Mennuti MT, Chandrasekaran S, Khalek N, Dugoff L. Cell-free DNA screening and sex chromosome aneuploidies. Prenat Diagn. 2015;35:980-985. [Crossref] [PubMed]
  54. Morain S, Greene MF, Mello MM. A new era in noninvasive prenatal testing. N Engl J Med. 2013;369:499-501. [Crossref] [PubMed]