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Prenatal Tarama Testleri ve Hücreden Bağımsız Fetal DNA

Year 2020, Volume: 27 Issue: 2, 254 - 260, 01.06.2020
https://doi.org/10.17343/sdutfd.605545

Abstract

Prenatal tarama
testlerinin kullanım amacı gebeliğin erken haftalarında kromozomal anöplöidi
açısından yüksek risk taşıyan gebelerin tesbit edilmesi ve her gebenin mevcut
riskleri ve tercihleri göz önünde bulundurularak bilgilendirilmesidir. Son
yıllarda prenatal tarama testleri geleneksel prenatal tarama testleri ve
hücreden bağımsız fetal DNA (cffDNA, fetal DNA, NIPT) olarak ikiye
ayrılmaktadır.
Maternal kandan biyobelirteçlerin ölçülüp
ultrasonografik bulgularla kombine edildiği geleneksel prenatal tarama testleri
halen birinci tercih olarak önerilmektedir. cffDNA ile gebeliğin 10.
haftasından itibaren maternal kanda yeni nesil sekanslama teknikleri
kullanılarak fetal DNA fragmanları analiz edilmektedir. Günümüzde hangi
popülasyona cffDNA testinin önerileceği, klinik kullanımda faydası, maliyeti,
limitasyonları ve avantajları  tartışmalı bir konudur.

References

  • 1. Hayran M. Sağlık Araştırmaları İçin Temel İstatistik. Hayran M, editör. Art Ofset Matbaacılık, Ankara: 2011; 25-29.
  • 2. Kanıta Dayalı Laboratuvar Tıbbı Editörler: Christopher P. Price and Robert H. Christenson Çeviri editörü: Diler Aslan Palme Yayıncılık, 2010 Ankara
  • 3. Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 2012;20:521–6.
  • 4. Loane M, Morris JK, Addor M, Arriola L, Budd J, Doray B, et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet 2013;21:27–33.
  • 5. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol 2010;88:1008–16.
  • 6. Dashe JS. Aneuploidy Screening in Pregnancy Obstetrics & Gynecology. 2016;128(1):181-94.
  • 7. Martin JA, Hamilton BE, Osterman MJK. Births in the United States, 2014. NCHS Data Brief No. 216. Hyattsville (MD): National Center for Health Statistics; 2015.
  • 8. Committee opinion no 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31-7
  • 9. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum alpha fetoprotein and fetal chromosome abnormalities. Am J Obstet Gynecol. 1984;148(7):886-94.
  • 10. Bogart MH, Pandian MR, Jones OW. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn. 1987;7(9):623-30
  • 11. Jorgensen PI, Trolle D. Low urinary estriol excretion during pregnancy in women giving birth to infants with Down syndrome. Lancet. 1972;2(7781):782-4.
  • 12. Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. Low second trimester maternal serum unconjugated oestriol in pregnancies with Down’s syndrome. Br JObstet Gynaecol 1988;95:330-3
  • 13. Nicolades KH, Azar G, Bryne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy. BMJ 1992;304:867-9.
  • 14. Wallace EM, Swanston IA, Mc Neilly AS, Ashby JP, Blundell G, Calder AA, et al. Second trimester screening for Down syndrome using maternal serum dimeric inhibin A. Clin Endocrinol. 1996;44(1):17-21.
  • 15. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CWG, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485–7
  • 16. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, et al. Non-invasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e201–205.e211.
  • 17. 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(11):913-20
  • 18. Rink BD, Norton NE. Screening for fetal aneuploidy. Seminars in Perinatology. 2016;40(1):35-43.
  • 19. Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH. First-trimester screening for trisomies 21,18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014;35:118-26.
  • 20. Kagan KO, Hoopmann M, Abele H, Alkier R, Lüthgens K. First-trimester combined screening for trisomy 21 with different combinations of placental growth factor, free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2012;40:530–5.
  • 21. Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol. 2003;21(4):313-21.
  • 22. Souka AP, Kaisenberg Von CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005;192(4):1005–21.
  • 23. CLSI. Maternal Serum Screening; Approved Standard-Second Edition. CLSI document I/LA25-A2.Wayne, PA: Clinical and Laboratory Standards Institute; 2011.
  • 24. https://fetalmedicine.org
  • 25. Sonek JD, Kagan KO, Nicolaides KH. Inverted Pyramid of Care. Clin Lab Med 2016;36(2):305-17
  • 26. Wald NJ, Hacksahw A. Neural tube defects. In Wald N, LAck I eds. Antenatal and Neonatal Screening. 2nd ed Oxford: Oxford University Press; 2000 p.23-57.
  • 27. Carmichael JB, Liu HP, Janik D, Hallahan TW, Nicolaides KH, Krantz DA. Expanded conventional first trimester screening. Prenat Diagn. 2017;37(8):802-7
  • 28. Royal College of Obstetricians and Gynaecologists (RCOG). Chorionic villus sampling and amniocentesis – Information for you. RCOG Press: London, September 2011.
  • 29. Mandel P, Metais P. Les acides nucleiques du plasma sanguin chez l'homme. CR Seances Soc Biol Fil. 1948;142:241-3.
  • 30. Leon SA, Shapiro B, Sklaroff DM, Yaros MJ. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res. 1977;37(3):646-50.
  • 31. Stroun M, Anker P, Lyautey J, Lederrey C, Maurice PA. Isolation and characterization of DNA from the plasma of cancer patients. Eur J Cancer Clin Oncol. 1987;23(6):707-12.
  • 32. 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:c7401.
  • 33. 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(7):1042-9.
  • 34. Chitty LS, Lo MD. Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA. Cold Spring Harb Perspect Med. 2015;5:a023085
  • 35. 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.
  • 36. 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 trophoblast. Prenat Diagn 2007;27:415-8
  • 37. 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(10):1747-51
  • 38. Zimmermann B, El-Sheikhah A, Nicolaides K, Holzgreve W, Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. ClinChem. 2005;51(9):1598-604.
  • 39. Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA. 2011;306(6):627-36.
  • 40. Kolialexi A, Tounta G, Mavrou A. Noninvasive fetal Rh D genotyping from maternal blood. Expert Rev Mol Diagn. 2010;10(3):285-96.
  • 41. Hahn S, Rusterholz C, Hösli I, Lapaire O. Cell-free nucleic acids as potential markers for preeclampsia. Placenta .2011; 32:17-20.
  • 42. Gregg AR, Skotko BG, Benkendorf BL, Monaghan KG, Bajaj K, Best RG et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18;1056-65.
  • 43. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75.
  • 44. El Messaoudi S, Rolet F, Mouliere F, Thierry AR. Circulating cell free DNA: Preanalytical considerations. Clinica Chimica Acta 2013; 424:222-30.
  • 45. Everett TR, Chitty LS. Cell free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol 2015;45:499-507.
  • 46. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis. Ultrasound Obstet Gynecol. 2017;50:302-14.
  • 47. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis. Ultrasound Obstet Gynecol. 2015;45:16-26.
  • 48. Benn P, Borrell A, Chiu R, Cuckle H, Dugoff L, Faas B, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society For Prenatal Diagnosis. Prenat Diagn. 2015;35:725-34.
  • 49. Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589–97.
  • 50. Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, et al. Two cases of placental T21 mosaicism: challenging the detection limits of non‐invasive prenatal testing. Prenat Diagn. 2013;33:1207–10.
  • 51. Dugo N, Padula F, Mobili L, Brizzi C, D’Emidio L, Cignini P, et al. Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre. J Prenat Med. 2014;8:31–5.
  • 52. Bayon JC, Orruno E, Portillo MI, Asua J. The consequences of implementing non-invasşve prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis. Cost Eff Resourc Alloc 2019;17:6
Year 2020, Volume: 27 Issue: 2, 254 - 260, 01.06.2020
https://doi.org/10.17343/sdutfd.605545

Abstract

References

  • 1. Hayran M. Sağlık Araştırmaları İçin Temel İstatistik. Hayran M, editör. Art Ofset Matbaacılık, Ankara: 2011; 25-29.
  • 2. Kanıta Dayalı Laboratuvar Tıbbı Editörler: Christopher P. Price and Robert H. Christenson Çeviri editörü: Diler Aslan Palme Yayıncılık, 2010 Ankara
  • 3. Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 2012;20:521–6.
  • 4. Loane M, Morris JK, Addor M, Arriola L, Budd J, Doray B, et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet 2013;21:27–33.
  • 5. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol 2010;88:1008–16.
  • 6. Dashe JS. Aneuploidy Screening in Pregnancy Obstetrics & Gynecology. 2016;128(1):181-94.
  • 7. Martin JA, Hamilton BE, Osterman MJK. Births in the United States, 2014. NCHS Data Brief No. 216. Hyattsville (MD): National Center for Health Statistics; 2015.
  • 8. Committee opinion no 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31-7
  • 9. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum alpha fetoprotein and fetal chromosome abnormalities. Am J Obstet Gynecol. 1984;148(7):886-94.
  • 10. Bogart MH, Pandian MR, Jones OW. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn. 1987;7(9):623-30
  • 11. Jorgensen PI, Trolle D. Low urinary estriol excretion during pregnancy in women giving birth to infants with Down syndrome. Lancet. 1972;2(7781):782-4.
  • 12. Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. Low second trimester maternal serum unconjugated oestriol in pregnancies with Down’s syndrome. Br JObstet Gynaecol 1988;95:330-3
  • 13. Nicolades KH, Azar G, Bryne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy. BMJ 1992;304:867-9.
  • 14. Wallace EM, Swanston IA, Mc Neilly AS, Ashby JP, Blundell G, Calder AA, et al. Second trimester screening for Down syndrome using maternal serum dimeric inhibin A. Clin Endocrinol. 1996;44(1):17-21.
  • 15. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CWG, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485–7
  • 16. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, et al. Non-invasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e201–205.e211.
  • 17. 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(11):913-20
  • 18. Rink BD, Norton NE. Screening for fetal aneuploidy. Seminars in Perinatology. 2016;40(1):35-43.
  • 19. Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH. First-trimester screening for trisomies 21,18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014;35:118-26.
  • 20. Kagan KO, Hoopmann M, Abele H, Alkier R, Lüthgens K. First-trimester combined screening for trisomy 21 with different combinations of placental growth factor, free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2012;40:530–5.
  • 21. Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol. 2003;21(4):313-21.
  • 22. Souka AP, Kaisenberg Von CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005;192(4):1005–21.
  • 23. CLSI. Maternal Serum Screening; Approved Standard-Second Edition. CLSI document I/LA25-A2.Wayne, PA: Clinical and Laboratory Standards Institute; 2011.
  • 24. https://fetalmedicine.org
  • 25. Sonek JD, Kagan KO, Nicolaides KH. Inverted Pyramid of Care. Clin Lab Med 2016;36(2):305-17
  • 26. Wald NJ, Hacksahw A. Neural tube defects. In Wald N, LAck I eds. Antenatal and Neonatal Screening. 2nd ed Oxford: Oxford University Press; 2000 p.23-57.
  • 27. Carmichael JB, Liu HP, Janik D, Hallahan TW, Nicolaides KH, Krantz DA. Expanded conventional first trimester screening. Prenat Diagn. 2017;37(8):802-7
  • 28. Royal College of Obstetricians and Gynaecologists (RCOG). Chorionic villus sampling and amniocentesis – Information for you. RCOG Press: London, September 2011.
  • 29. Mandel P, Metais P. Les acides nucleiques du plasma sanguin chez l'homme. CR Seances Soc Biol Fil. 1948;142:241-3.
  • 30. Leon SA, Shapiro B, Sklaroff DM, Yaros MJ. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res. 1977;37(3):646-50.
  • 31. Stroun M, Anker P, Lyautey J, Lederrey C, Maurice PA. Isolation and characterization of DNA from the plasma of cancer patients. Eur J Cancer Clin Oncol. 1987;23(6):707-12.
  • 32. 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:c7401.
  • 33. 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(7):1042-9.
  • 34. Chitty LS, Lo MD. Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA. Cold Spring Harb Perspect Med. 2015;5:a023085
  • 35. 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.
  • 36. 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 trophoblast. Prenat Diagn 2007;27:415-8
  • 37. 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(10):1747-51
  • 38. Zimmermann B, El-Sheikhah A, Nicolaides K, Holzgreve W, Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. ClinChem. 2005;51(9):1598-604.
  • 39. Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA. 2011;306(6):627-36.
  • 40. Kolialexi A, Tounta G, Mavrou A. Noninvasive fetal Rh D genotyping from maternal blood. Expert Rev Mol Diagn. 2010;10(3):285-96.
  • 41. Hahn S, Rusterholz C, Hösli I, Lapaire O. Cell-free nucleic acids as potential markers for preeclampsia. Placenta .2011; 32:17-20.
  • 42. Gregg AR, Skotko BG, Benkendorf BL, Monaghan KG, Bajaj K, Best RG et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18;1056-65.
  • 43. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75.
  • 44. El Messaoudi S, Rolet F, Mouliere F, Thierry AR. Circulating cell free DNA: Preanalytical considerations. Clinica Chimica Acta 2013; 424:222-30.
  • 45. Everett TR, Chitty LS. Cell free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol 2015;45:499-507.
  • 46. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis. Ultrasound Obstet Gynecol. 2017;50:302-14.
  • 47. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis. Ultrasound Obstet Gynecol. 2015;45:16-26.
  • 48. Benn P, Borrell A, Chiu R, Cuckle H, Dugoff L, Faas B, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society For Prenatal Diagnosis. Prenat Diagn. 2015;35:725-34.
  • 49. Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589–97.
  • 50. Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, et al. Two cases of placental T21 mosaicism: challenging the detection limits of non‐invasive prenatal testing. Prenat Diagn. 2013;33:1207–10.
  • 51. Dugo N, Padula F, Mobili L, Brizzi C, D’Emidio L, Cignini P, et al. Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre. J Prenat Med. 2014;8:31–5.
  • 52. Bayon JC, Orruno E, Portillo MI, Asua J. The consequences of implementing non-invasşve prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis. Cost Eff Resourc Alloc 2019;17:6
There are 52 citations in total.

Details

Primary Language Turkish
Subjects Clinical Sciences
Journal Section Reviews
Authors

Fevziye Burcu Şirin 0000-0001-5304-1007

Publication Date June 1, 2020
Submission Date August 16, 2019
Acceptance Date October 25, 2019
Published in Issue Year 2020 Volume: 27 Issue: 2

Cite

Vancouver Şirin FB. Prenatal Tarama Testleri ve Hücreden Bağımsız Fetal DNA. Med J SDU. 2020;27(2):254-60.

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