Vol 90, No 1 (2019)
Review paper
Published online: 2019-01-31

open access

Page views 2725
Article views/downloads 2207
Get Citation

Connect on Social Media

Connect on Social Media

Is there a future for cell-free fetal dna tests in screening for preeclampsia?

Urszula Sarzynska-Nowacka1, Przemyslaw Kosinski1, Miroslaw Wielgos1
Pubmed: 30756372
Ginekol Pol 2019;90(1):55-60.

Abstract

CffDNA screening is a powerful diagnostic tool in the prenatal diagnosis algorithm for chromosomal abnormalities. With detailed ultrasound examination as the mainstay of first-trimester risk assessment, cffDNA has been shown to be superior to first-trimester combined screening (FTCS) in false-positive rates for trisomy 21 detection. In light of the growing interest in cffDNA testing and the possibility of it replacing first-trimester biochemistry, we decided to investigate the usefulness of cffDNA tests in early-pregnancy risk assessment for preeclampsia (PE). The aim of this review paper was to evaluate clinical application of first-trimester cfDNA in predicting PE, as well as to investigate its possible use in first-trimester PE screening enhancement, also in cases where biochemistry is not performed.

Article available in PDF format

View PDF Download PDF file

References

  1. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997; 350(9076): 485–487.
  2. Lo YM, Lau TK, Zhang J, et al. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem. 1999; 45(10): 1747–1751.
  3. Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015; 45(3): 249–266.
  4. Kagan KO, Sroka F, Sonek J, et al. First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial. Ultrasound Obstet Gynecol. 2018; 51(4): 437–444.
  5. Wataganara T, Metzenbauer M, Peter I, et al. Placental volume, as measured by 3-dimensional sonography and levels of maternal plasma cell-free fetal DNA. Am J Obstet Gynecol. 2005; 193(2): 496–500.
  6. O'Gorman N, Wright D, Rolnik DL, et al. Study protocol for the randomised controlled trial: combined multimarker screening and randomised patient treatment with ASpirin for evidence-based PREeclampsia prevention (ASPRE). BMJ Open. 2016; 6(6): e011801.
  7. Roberge S, Nicolaides K, Demers S, et al. The role of aspirin dose on the prevention of preeclampsia and fetal growth restriction: systematic review and meta-analysis. Am J Obstet Gynecol. 2017; 216(2): 110–120.e6.
  8. Rolnik DL, Wright D, Poon LCY, et al. ASPRE trial: performance of screening for preterm pre-eclampsia. Ultrasound Obstet Gynecol. 2017; 50(4): 492–495.
  9. Kosinski P, Sarzynska-Nowacka U, Fiolna M, et al. The practical use of acetylsalicylic acid in the era of the ASPRE trial. Update and literature review. Ginekol Pol. 2018; 89(2): 107–111.
  10. Alberry MS, Maddocks DG, Hadi MA, et al. Quantification of cell free fetal DNA in maternal plasma in normal pregnancies and in pregnancies with placental dysfunction. Am J Obstet Gynecol. 2009; 200(1): 98.e1–98.e6.
  11. Contro E, Bernabini D, Farina A. Cell-Free Fetal DNA for the Prediction of Pre-Eclampsia at the First and Second Trimesters: A Systematic Review and Meta-Analysis. Mol Diagn Ther. 2017; 21(2): 125–135.
  12. Lau TW, Leung TN, Chan LYS, et al. Fetal DNA clearance from maternal plasma is impaired in preeclampsia. Clin Chem. 2002; 48(12): 2141–2146.
  13. Chan KC, Ding C, Gerovassili A, et al. Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem. 2006; 52(12): 2211–2218.
  14. Salvianti F, Inversetti A, Smid M, et al. Prospective evaluation of RASSF1A cell-free DNA as a biomarker of pre-eclampsia. Placenta. 2015; 36(9): 996–1001.
  15. Jani J, Rego de Sousa MJ, Benachi A. Cell-free DNA testing: how to choose which laboratory to use? Ultrasound Obstet Gynecol. 2015; 46(5): 515–517.
  16. Chiu RWK, Lo YM. Noninvasive prenatal diagnosis empowered by high-throughput sequencing. Prenat Diagn. 2012; 32(4): 401–406.
  17. Ashoor G, Syngelaki A, Poon LCY, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013; 41(1): 26–32.
  18. Revello R, Sarno L, Ispas A, et al. Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result. Ultrasound Obstet Gynecol. 2016; 47(6): 698–704.
  19. Rolnik DL, da Silva Costa F, Lee TJ, et al. Association between fetal fraction on cell-free DNA testing and first-trimester markers for pre-eclampsia. Ultrasound Obstet Gynecol. 2018; 52(6): 722–727.
  20. Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. 2013; 33(7): 662–666.
  21. Wright D, Wright A, Nicolaides KH. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol. 2015; 45(1): 48–54.
  22. Gil MM, Accurti V, Santacruz B, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017; 50(3): 302–314.
  23. Norton M, Musci T, Wapner R. 358: Relationship between 1st trimester fetal fraction of cell-free DNA from maternal plasma and preeclampsia in a large general pregnancy population. American Journal of Obstetrics and Gynecology. 2015; 212(1): S188.
  24. Sifakis S, Zaravinos A, Maiz N, et al. First-trimester maternal plasma cell-free fetal DNA and preeclampsia. Am J Obstet Gynecol. 2009; 201(5): 472.e1–472.e7.
  25. Papantoniou N, Bagiokos V, Agiannitopoulos K, et al. RASSF1A in maternal plasma as a molecular marker of preeclampsia. Prenat Diagn. 2013; 33(7): 682–687.
  26. Room TB, Lauderdale F, Goldberg IJ. HHS Public Access. 2015; 12(2): 130–40.
  27. Poon LCY, Musci T, Song K, et al. Maternal plasma cell-free fetal and maternal DNA at 11-13 weeks' gestation: relation to fetal and maternal characteristics and pregnancy outcomes. Fetal Diagn Ther. 2013; 33(4): 215–223.
  28. Rolnik DL, O'Gorman N, Fiolna M, et al. Maternal plasma cell-free DNA in the prediction of pre-eclampsia. Ultrasound Obstet Gynecol. 2015; 45(1): 106–111.
  29. Thurik FF, Lamain-de Ruiter M, Javadi A, et al. Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes. Prenat Diagn. 2016; 36(12): 1104–1111.
  30. Bianchi DW, Chudova D, Sehnert AJ, et al. Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA. 2015; 314(2): 162–169.
  31. Kulasingam V, Diamandis EP, Cohen PA, et al. Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening. BMC Med. 2016; 14(1): 126.
  32. Bennett J, Chitty L, Lewis C. Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views. J Genet Couns. 2016; 25(1): 198–207.
  33. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011; 13(11): 913–920.
  34. Gratacós E, Nicolaides K. Clinical perspective of cell-free DNA testing for fetal aneuploidies. Fetal Diagn Ther. 2014; 35(3): 151–155.
  35. Kim MJ, Kim SY, Park SY, et al. Association of fetal-derived hypermethylated RASSF1A concentration in placenta-mediated pregnancy complications. Placenta. 2013; 34(1): 57–61.