Original Paper

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Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks' gestation: relation to maternal and fetal characteristics

  1. G. Ashoor1,
  2. A. Syngelaki1,
  3. L. C. Y. Poon1,
  4. J. C. Rezende1,
  5. K. H. Nicolaides1,2,*

Article first published online: 4 DEC 2012

DOI: 10.1002/uog.12331

Issue

Ultrasound in Obstetrics & Gynecology

Ultrasound in Obstetrics & Gynecology

Volume 41, Issue 1, pages 26–32, January 2013

Additional Information

How to Cite

Ashoor, G., Syngelaki, A., Poon, L. C. Y., Rezende, J. C. and Nicolaides, K. H. (2013), Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol, 41: 26–32. doi: 10.1002/uog.12331

Author Information

  1. 1

    Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK

  2. 2

    Department of Fetal Medicine, University College Hospital, London, UK

*Correspondence to: Prof. K. H. Nicolaides, Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London SE5 9RS, UK (e-mail: kypros@fetalmedicine.com)

Publication History

  1. Issue published online: 25 DEC 2012
  2. Article first published online: 4 DEC 2012
  3. Accepted manuscript online: 25 OCT 2012 10:23AM EST
  4. Manuscript Accepted: 18 OCT 2012

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References

  • 1
    Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011; 342: c7401.
  • 2
    Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, Zheng YW, Lun FM, Chan LY, Jin Y, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011; 6: e21791.
  • 3
    Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive 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.e1–11.
  • 4
    Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med 2011; 13: 913–920.
  • 5
    Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011; 57: 1042–1049.
  • 6
    Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 322.e1–5.
  • 7
    Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012; 119: 890–901.
  • 8
    Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. 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; 207: 137.e1–8.
  • 9
    Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012; 14: 296–305.
  • 10
    Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Optimized non-invasive evaluation of fetal aneuploidy risk using cell-free DNA from maternal blood. Am J Obstet Gynecol 2012; 206: 319.e1–9.
  • 11
    Nicolaides KH, Syngelaki A, Birdir C, Touzet G, Ashoor G. Noninvasive prenatal testing for fetal trisomies in an average-risk population. Am J Obstet Gynecol http://dx.doi.org/10.1016/j.ajog.2012.08.033
  • 12
    Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31: 7–15.
    Direct Link:
  • 13
    Ashoor G, Poon L, Syngelaki A, Mosimann B, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn Ther 2012; 31: 237–243.
  • 14
    Nicolaides KH. Turning the pyramid of prenatal care. Fetal Diagn Ther 2011; 29: 183–196.
  • 15
    Robinson HP, Fleming JE. A critical evaluation of sonar “crown–rump length” measurements. Br J Obstet Gynaecol 1975; 82: 702–710.
    Direct Link:
  • 16
    Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 2008; 31: 376–383.
    Direct Link:
  • 17
    Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 2011; 31: 90–102.
    Direct Link:
  • 18
    Kagan KO, Wright D, Spencer K, Molina FS, Nicolaides KH. First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol 2008; 31: 493–502.
    Direct Link:
  • 19
    Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, Zahn J, Lee K, Shen N, Doshi J, Sun M, Garrison J, Sandler J, Hollemon D, Pattee P, Tomita-Mitchell A, Mitchell M, Stuelpnagel J, Song K, Oliphant A. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012; 32: 3–9.
    Direct Link:
  • 20
    Bredaki FE, Wright D, Akolekar R, Cruz G, Nicolaides KH. Maternal serum alpha-fetoprotein in normal pregnancy at 11–13 weeks' gestation. Fetal Diagn Ther 2011; 30: 274–279.
  • 21
    Pandya P, Wright W, Syngelaki A, Akolekar R, Nicolaides KH. Maternal serum placental growth factor in prospective screening for aneuploidies at 8–13 weeks' gestation. Fetal Diagn Ther 2012; 31: 87–93.
  • 22
    Haghiac M, Vora NL, Basu S, Johnson KL, Presley L, Bianchi DW, Mouzon SH. Increased death of adipose cells, a path to release cell-free DNA into systemic circulation of obese women. Obesity (Silver Spring) 2012 Jun 7. doi: 10.1038/oby.2012.138. [Epub ahead of print]
  • 23
    Zdravkovic T, Genbacev O, McMaster MT, Fisher SJ. The adverse effects of maternal smoking on the human placenta: a review. Placenta 2005; 26 (Suppl): S81–S86.
  • 24
    Jauniaux E, Burton GJ. The effect of smoking in pregnancy on early placental morphology. Obstet Gynecol 1992; 79: 645–648.
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