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VOLUME 10 , ISSUE 2 ( April-June, 2016 ) > List of Articles

REVIEW ARTICLE

Cell-free DNA Testing: Where are We now?

Gokhan Goynumer, Cihat Sen, Olus Api, Murat Yayla

Keywords : Chromosomal abnormalities,Fetal DNA,Screening

Citation Information : Goynumer G, Sen C, Api O, Yayla M. Cell-free DNA Testing: Where are We now?. Donald School J Ultrasound Obstet Gynecol 2016; 10 (2):172-177.

DOI: 10.5005/jp-journals-10009-1463

License: CC BY-NC 4.0

Published Online: 01-03-2017

Copyright Statement:  Copyright © 2016; The Author(s).


Abstract

How to cite this article

Sen C, Api O, Yayla M, Goynumer G. Cell-free DNA Testing: Where are We now? Donald School J Ultrasound Obstet Gynecol 2016;10(2):172-177.

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  1. Update on procedure related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27(1):1-7.
  2. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999 Apr;13(4):231-237.
  3. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015 Mar;45(3):249-266.
  4. Georg Schmorl on trophoblasts in the maternal circulation. Placenta 2007 Jan;28(1):1-5.
  5. Presence of fetal DNA in maternal plasma and serum. Lancet 1997 Aug 16;350(9076):485-487.
  6. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med 1998 Dec 10;339(24):1734-1738.
  7. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol 2016 Jan;47(1):45-52.
  8. Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012 Aug;207(2):137.e1-137.e8.
  9. 640. Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015 Sep;126(3):e31-e37.
  10. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011 Nov;13(11):913-920.
  11. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012 May;119(5):890-901.
  12. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012 Apr;206(4):319.e1-319.e9.
  13. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012 Apr;206(4):322.e1-322.e5.
  14. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y using targeted sequencing of polymorphic loci. Prenat Diag 2012 Dec;32(13):1233-1241.
  15. Validation study of maternal blood cell-free DNA testing by targeted sequencing of single-nucleotide polymorphisms at chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013 Jun;33(6):575-579.
  16. Prenatal diagnosis innovation: genome sequencing of maternal plasma. Annu Rev Med 2016 Jan 14;67:419-432.
  17. Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet Med 2015 Oct;17(10):836-838.
  18. Current status of testing for microdeletion syndromes and rare autosomal trisomies using cell-free DNA technology. Obstet Gynecol 2015 Nov;126(5):1095-1099.
  19. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn 2015 Jul;35(7):656-662.
  20. Noninvasive prenatal diagnosis of Huntington disease; detection of the paternally inherited expanded CAG repeat in maternal plasma. Prenat Diagn 2015 Oct;35(10):945-949.
  21. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma. Genet Med 2015 Nov;17(11):889-896.
  22. Non-invasive prenatal diagnostic testing for betathalassaemia using cell-free fetal DNA and next generation sequencing. Prenat Diagn 2015 Mar;35(3):258-265.
  23. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 2014 Jun;99(6):E1022-E1030.
  24. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocr Dev 2016;30:37-41.
  25. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol 2015 Feb;125(2):375-382.
  26. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues. Appl Clin Genet 2016 Feb 4;9:15-26.
  27. Clinical perspective of cell-free DNA testing for fetal aneuploidies. Fetal Diagn Ther 2014;35(3): 151-155.
  28. Validation study of maternal blood cell-free DNA testing by targeted sequencing of single-nucleotide polymorphisms at chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013 Jun;33(6):575-579.
  29. Prenatal detection of triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther 2014;35(3):212-217.
  30. The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands. Facts Views Vis Obgyn 2014;6(1):7-12.
  31. Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result. Ultrasound Obstet Gynecol 2016 Jan 7. doi: 10.1002/uog.15851. [Epub ahead of print].
  32. The influence of low molecular weight heparin medication on plasma DNA in pregnant women. Prenat Diagn 2015 Nov;35(11):1155-1157.
  33. Fetoplacental mosaicism: potential implications for falsepositive and false-negative noninvasive prenatal screening results. Genet Med 2014 Aug;16(8):620-624.
  34. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med 2013 Sep;15(9):729-732.
  35. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 2015 Jul 14;314(2):162-169.
  36. NIPT Cell Free DNA Screening Predictive Value Calculator. National Society of Genetic Counselors (NSGC) and Perinatal Quality Foundation (PQF). Endorsed Dec 2015. Available from: http://www.acog.org/Resources-and-Publications/Endorsed-Documents.
  37. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2013 Jul;42(1):41-50.
  38. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther 2014;35(3):185-192.
  39. First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2015 Jan;45(1):42-47.
  40. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014;35(3):156-173.
  41. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015 Jan;45(1):48-54.
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