First-trimester screening-biomarkers and cell-free DNA

References

• Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–487.
   PubMed Web of Science ®Google Scholar
• Santorum M, Wright D, Syngelaki A, et al. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 2017;49(6):714–720.
   PubMed Web of Science ®Google Scholar
• Committee on Practice Bulletins—Obstetrics, and The Society for Maternal-Fetal Medicine. Practice Bulletin No. 163: screening for fetal aneuploidy. Obstet Gynecol. 2016;127:5.
   Web of Science ®Google Scholar
• Available from: https://www.genomeweb.com/molecular-diagnostics/Swiss-health-insurance-cover-nipt-if-first-trimester-screening-indicates-high.2015.
   Google Scholar
• Syngelaki A, Hammami A, Bower S, et al. Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol. 2019;54(4):468–476.
   PubMed Web of Science ®Google Scholar
• Tan MY, Wright D, Syngelaki A, et al. Comparison of diagnostic accuracy of early screening for pre-eclampsia by NICE guidelines and a method combining maternal factors and biomarkers: results of SPREE. Ultrasound Obstet Gynecol. 2018;51(6):743–750.
   PubMed Web of Science ®Google Scholar
• Rolnik DL, Wright D, Poon LC, et al. Aspirin versus placebo in pregnancies at high risk for preterm preeclampsia. N Engl J Med. 2017;377(7):613–622.
   PubMed Web of Science ®Google Scholar
• Poon LC, Shennan A, Hyett JA, et al. The International Federation of Gynecology and Obstetrics (FIGO) initiative on pre-eclampsia: A pragmatic guide for first-trimester screening and prevention. Int J Gynecol Obstet. 2019;145(S1):1–33.
   PubMed Web of Science ®Google Scholar
• Syngelaki A, Pastides A, Kotecha R, et al. First-trimester screening for gestational diabetes mellitus based on maternal characteristics and history. Fetal Diagn Ther. 2014;38(1):14–21.
   PubMed Web of Science ®Google Scholar
• Aupont JE, Akolekar R, Illian A, et al. Prediction of stillbirth from placental growth factor at 19–24 weeks. Ultrasound Obstet Gynecol. 2016;48(5):631–635.
   PubMed Web of Science ®Google Scholar
• Akolekar R, Machuca M, Mendes M, et al. Prediction of stillbirth from placental growth factor at 11–13 weeks. Ultrasound Obstet Gynecol. 2016;48(5):618–623.
   PubMed Web of Science ®Google Scholar
• Karagiannis G, Akolekar R, Sarquis R, et al. Prediction of small-for-gestation neonates from biophysical and biochemical markers at 11–13 weeks. Fetal Diagn Ther. 2011;29(2):148–154.
   PubMed Web of Science ®Google Scholar
• Crovetto F, Triunfo S, Crispi F, et al. First-trimester screening with specific algorithms for early- and late-onset fetal growth restriction. Ultrasound Obstet Gynecol. 2016;48(3):340–348.
   PubMed Web of Science ®Google Scholar
• Beta J, Bredaki FE, Rodriguez Calvo J, et al. Maternal serum α-fetoprotein at 11–13 weeks’ gestation in spontaneous early preterm delivery. Fetal Diagn Ther. 2011;30(2):88–93.
   PubMed Web of Science ®Google Scholar
• Tancrède S, Bujold E, Giguère Y, et al. Mid-trimester maternal serum AFP and hCG as markers of preterm and term adverse pregnancy outcomes. J Obstet Gynaecol Can. 2015;37(2):111–116.
   PubMed Web of Science ®Google Scholar
• Sun K, Jiang P, Chan KC, et al. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments. Proc Natl Acad Sci USA. 2015;112(40):E5503–E5512.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Taylor-Phillips S, Freeman K, Geppert J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002.
   PubMed Web of Science ®Google Scholar
• Mackie FL, Hemming K, Allen S, et al. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG: Int J Obstet Gy. 2017;124(1):32–46.
   PubMed Web of Science ®Google Scholar
• Kypri E, Ioannides M, Touvana E, et al. Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test. Mol Cytogenet. 2019;12(1):34.
   PubMed Web of Science ®Google Scholar
• Galeva S, Konstantinidou L, Gil MM, et al. Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test. Ultrasound Obstet Gynecol. 2019;53(2):208–213.
   PubMed Web of Science ®Google Scholar
• Ashoor G, Syngelaki A, Poon LC, 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.
   PubMed Web of Science ®Google Scholar
• Scott FP, Menezes M, Palma-Dias R, et al. Factors affecting cell-free DNA fetal fraction and the consequences for test accuracy. J Matern Fetal Neonatal Med. 2018;31(14):1865–1872.
   PubMed Web of Science ®Google Scholar
• Taneja PA, Prosen TL, de Feo E, et al. Fetal aneuploidy screening with cell-free DNA in late gestation. J Matern Fetal Neonatal Med. 2017;30(3):338–342.
   PubMed Web of Science ®Google Scholar
• Pergament E. The future of prenatal diagnosis and screening. JCM. 2014;3(4):1291–1301.
   Google Scholar
• Bianchi DW. Should we ‘open the kimono’ to release the results of rare autosomal aneuploidies following noninvasive prenatal whole genome sequencing?. Prenat Diagn. 2017;37(2):123–125.
   PubMed Web of Science ®Google Scholar
• Gregg AR, Skotko BG, Benkendorf JL, 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(10):1056–1065.
   PubMed Web of Science ®Google Scholar
• Grati FR, Ferreira J, Benn P, et al. Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA. Genet Med. 20192. DOI:https://doi.org/10.1038/s41436-019-0630-y.
   Google Scholar
• Benn P, Malvestiti F, Grimi B, et al. Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples. Ultrasound Obstet Gynecol. 2019;54(4):458–467.
   PubMed Web of Science ®Google Scholar
• Kozlowski P, Burkhardt T, Gembruch U, et al. DEGUM, OGUM, SGUM and FMF Germany recommendations for the implementation of first-trimester screening, detailed ultrasound, cell-free DNA screening and diagnostic procedures. Ultraschall in Med. 2019;40(2):176–193.
   PubMed Web of Science ®Google Scholar
• Di Renzo GC, Bartha JL, Bilardo CM. Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications. Am J Obstet Gynecol. 2019;220(6):537–542.
   PubMed Web of Science ®Google Scholar
• Gynaecologists, RCOG Sci Impact. 2014. Paper No. 15. p. 2.
   Google Scholar
• Pescia G, Guex N, Iseli C, et al. Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases. Genet Med. 2017;19(2):169–175.
   PubMed Web of Science ®Google Scholar
• Bianchi DW, Parsa S, Bhatt S, et al. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol. 2015;125(2):375–382.
   PubMed Web of Science ®Google Scholar
• Grati FR, Bajaj K, Zanatta V, et al. Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies. Prenat Diagn. 2017;37(10):1017–1027.
   PubMed Web of Science ®Google Scholar
• Bianchi DW. Turner syndrome: new insights from prenatal genomics and transcriptomics. Am J Med Genet C. 2019;181(1):29.
   Google Scholar
• Wapner RJ, Levy B. The impact of new genomic technologies in reproductive medicine. Discov Med. 2014;17(96):313–318.
   PubMed Web of Science ®Google Scholar
• Everett TR, Chitty LS. Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol. 2015;45(5):499–507.
   PubMed Web of Science ®Google Scholar
• Drury S, Hill M, Chitty LS. Cell-free fetal DNA testing for prenatal diagnosis. Adv Clin Chem. 2016;76:1–35.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Oepkes D, Page-Christiaens GC, Bax CJ, et al. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I: clinical impact. Prenat Diagn. 2016;36(12):1083–1090.
   PubMed Web of Science ®Google Scholar
• Available from: https://www.genomeweb.com/molecular-diagnostics/ashg-dutch-nationwide-nipt-implementation-study-sees-42-percent-uptake-after;2018.
   Google Scholar
• Kagan KO, Wright D, Nicolaides KH. 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;45(1):42–47.
   PubMed Web of Science ®Google Scholar
• García-Pérez L, Linertová R, Álvarez-de-la-Rosa M, et al. Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review. Eur J Health Econ. 2018;19(7):979–991.
   PubMed Web of Science ®Google Scholar
• Prefumo F, et al. The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: a budget impact analysis. PLoS One. 2019;21(6):e0218166.
   Google Scholar
• Bayón JC, Orruño E, Portillo MI, et al. The consequences of implementing non-invasive 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 Resour Alloc. 2019;17(1):6.
   PubMed Web of Science ®Google Scholar
• Available from: https://www.ashg.org/press/201503-NIPT_statement.html.
   Google Scholar
• Available from: https://www.has-sante.fr/portail/jcms/c_2768535/fr/trisomie-21-la-has-actualise-ses-recommandations-concernant-le-depistage-prenatal-de-la-trisomie-21;2017.
   Google Scholar
• Available from: https://www.fhi.no/en/publ/2016/non-invasive-prenatal-testing-trisomy-21-18-og-13/.2016.
   Google Scholar
• Available from: https://helsenorge.no/undersokelse-og-behandling/fosterdiagnostikk.
   Google Scholar
• Available from: http://www.nfog.org/files/guidelines/.NIPT%202016%2006%2005%20.pdf;2016.
   Google Scholar
• Lou S, Petersen OB, Jørgensen FS, et al. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark. Acta Obstet Gynecol Scand. 2018;97(2):195–203.
   PubMed Web of Science ®Google Scholar
• Available from: http://salutpublica.gencat.cat/web/.content/minisite,protocol_seguiment_embaras/protocol-seguiment-embaras-;2018.
   Google Scholar
• Available from: https://sanac.org/images/site/boletines/ADN_FETAL_Instrucciones_240519-1.pdf.
   Google Scholar
• Available from: https://www.comunidad.madrid/hospital/12octubre.
   Google Scholar
• Salomon LJ, Sotiriadis A, Wulff CB, et al. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol. 2019;54(4):442–451.
   PubMed Web of Science ®Google Scholar