A method for improving the accuracy of non-invasive prenatal screening by cell-free foetal DNA size selection

References

• Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy . Obstet Gynecol 2015, 126(3).
   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).10.1373/clinchem.2004.040196
   PubMed Web of Science ®Google Scholar
• Alberry M. , Maddocks D. , Jones M. , et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn. 2007;27(5):415–418.10.1002/(ISSN)1097-0223
   PubMed Web of Science ®Google Scholar
• Zhang H. , Gao Y. , Jiang F. et al . Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45(5):530–538.10.1002/uog.14792
   PubMed Web of Science ®Google Scholar
• Strom CM. , Anderson B. , Tsao D. et al . Improving the positive predictive value of non-invasive prenatal screening (NIPS). PLoS ONE. 2017;12(3):e0167130.10.1371/journal.pone.0167130
   PubMed Web of Science ®Google Scholar
• Neufeld-Kaiser WA. , Cheng EY. , Liu YJ. . Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center. BMC Med. 2015;13:129.10.1186/s12916-015-0374-8
   PubMed Web of Science ®Google Scholar
• Canick JA. , Palomaki GE. , Kloza EM. , et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn. 2013;33(7):667–674.10.1002/pd.4126
   PubMed Web of Science ®Google Scholar
• Phillips OP. , Tharapel AT. , Lerner JL. , et al. Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol. 1996;174(3):850–855.10.1016/S0002-9378(96)70312-5
   PubMed Web of Science ®Google Scholar
• Hartwig TS. , Ambye L. , Sorensen S. , et al. Discordant non-invasive prenatal testing (NIPT) - a systematic review. Prenat Diagn. 2017;37(6):527–539.10.1002/pd.5049
   PubMed Web of Science ®Google Scholar
• Grati FR. . Chromosomal mosaicism in human feto-placental development: implications for prenatal diagnosis. J Clin Med. 2014;3(3):809–837.10.3390/jcm3030809
   PubMedGoogle Scholar
• Burnham P. , Kim MS. , Agbor-Enoh S. , et al. Single-stranded DNA library preparation uncovers the origin and diversity of ultrashort cell-free DNA in plasma. Sci Rep. 2016;6:27859.10.1038/srep27859
   PubMed Web of Science ®Google Scholar
• Arbabi A. , Rampasek L. , Brudno M. . Cell-free DNA fragment-size distribution analysis for 280 non-invasive prenatal CNV prediction. Bioinformatics. 2016;32(11):1662–1669.10.1093/bioinformatics/btw178
   PubMed Web of Science ®Google Scholar
• Yu SC , Chan KC , Zheng YW et al . Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci USA. 2014;111(23):8583–8588.10.1073/pnas.1406103111
   PubMed Web of Science ®Google Scholar
• Alkan C. , Kidd JM. , Marques-Bonet T. et al . Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet. 2009;41(10):1061–1067.10.1038/ng.437
   PubMed Web of Science ®Google Scholar
• Wang T. , He Q. , Li H. et al. An optimized method for accurate fetal sex prediction and sex chromosome aneuploidy detection in non-invasive prenatal testing. PLoS One. 2016;11(7):e0159648.10.1371/journal.pone.0159648
   PubMed Web of Science ®Google Scholar
• Norwitz ER. , Levy B. . Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol . 2013; 6(2):48–62.
   PubMedGoogle Scholar
• Dondorp W. , de Wert G. , Bombard Y. et al . Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23(11):1592.10.1038/ejhg.2015.109
   PubMed Web of Science ®Google Scholar
• Cuckle H. , Benn P. , Pergament E. . Cell-free DNA screening for fetal aneuploidy as a clinical service. Clin Biochem. 2015;48(15):932–941.10.1016/j.clinbiochem.2015.02.011
   PubMed Web of Science ®Google Scholar
• Minarik G. , Repiska G. , Hyblova M. , Nagyova E. , et al . Utilization of benchtop next generation sequencing platforms ion torrent PGM and MiSeq in noninvasive prenatal testing for chromosome 21 trisomy and testing of impact of in silico and physical size selection on its analytical performance. PLOS ONE. 2015;10(12):e0144811.10.1371/journal.pone.0144811
   PubMed Web of Science ®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):169–175.10.1038/gim.2016.72
   PubMed Web of Science ®Google Scholar
• Snyder MW. , Kircher M. , Hill AJ. , et al. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin. Cell. 2016;164(1–2):57–68.10.1016/j.cell.2015.11.050
   PubMed Web of Science ®Google Scholar
• Farina A. , LeShane ES. , Romero R. , et al. High levels of fetal cell-free DNA in maternal serum: a risk factor for spontaneous preterm delivery. Am J Obstet Gynecol. 2005;193(2):421–425.10.1016/j.ajog.2004.12.023
   PubMed Web of Science ®Google Scholar
• Dugoff L. , Barberio A. , Whittaker PG. , et al. Cell-free DNA fetal fraction and preterm birth. Am J Obstet Gynecol . 2016, 215(2): e231–e237.
   Google Scholar