Newborn and Infant Nursing Reviews
Volume 8, Issue 1 , Pages e1-e6 , March 2008

First-Trimester Nuchal Translucency Screening to Detect Down Syndrome

  • DeAnn Smith, RNC, MSN, NNP

      Affiliations

    • Corresponding Author InformationAddress correspondences to DeAnn Smith, RNC, MSN, NNP, Pediatrix Medical Group-North Dallas, 3001 E. President George Bush Turnpike Suite 250, Richardson, TX 75082.

References 

  1. Down syndrome. Retrieved June 21, 2006, from http://www.marchofdimes.com/professionals/681_1214.asp2006;
  2. Sau A, Langford K, Auld B, Maxwell D. Screening for trisomy 21: the significance of a positive second trimester serum screen in women screen negative after a nuchal translucency scan. J Obstet Gynaecol. 2001;21:145–148
  3. Simpson JL. Choosing the best prenatal screening protocol. N Engl J Med. 2005;353:2068–2070
  4. Salomon LJ, Bernard JP, Taupin P, et al. Relationship between nuchal translucency at 11-14 weeks and nuchal fold at 20-24 weeks of gestation. Ultrasound Obstet Gynecol. 2001;18:636–637
  5. Benacerraf B, Barss V, Laboda L. A sonographic sign for the detection in the second trimester of the fetus with Down's syndrome. Am J Obstet Gynecol. 1985;151:1078–1079
  6. Maymon R, Weinraub Z, Herman A. Pregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news?. J Perinat Med. 2005;33:191–198
  7. Malone FD, D'Alton ME. First-trimester sonographic screening for Down syndrome. Obstet Gynecol. 2003;102:1066–1079
  8. Bekker M, Van Den Akker N, Bartelings M, et al. Nuchal edema and venous-lymphatic phenotype disturbance in human fetuses and mouse embryos with aneuploidy. J Soc Gynecol Investig. 2006;13:209–216
  9. L'Hermine-Coulomb A. Increased nuchal translucency pathophysiology. J Gynecol Obstet Biol Reprod. 2005;34:S89–S96
  10. Cuckle H, Benn P, Wright D. Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters. Semin Perinatol. 2005;29:252–257
  11. Sharma G, Gold H, Chervenak F, et al. Patient preference regarding first-trimester aneuploidy risk assessment. Am J Obstet Gynecol. 2005;193:1429–1436
  12. Spencer K, Aitken D. Factors affecting women's preference for type of prenatal screening test for chromosomal anomalies. Ultrasound Obstet Gynecol. 2004;24:735–739
  13. Snijders RJM, Noble P, Sebire N, et al. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Lancet. 1998;352:343–346
  14. Malone FD, Canick JA, Ball R, et al. First-trimester or second-trimester screening or both, for Down's syndrome. N Engl J Med 2005;353:2001-2011, 2068-2070.
  15. Wapner R, Thom E, Simpson JL, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med. 2003;349:1405–1413
  16. Bindra R, Heath V, Liao A, et al. One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15,030 pregnancies. Ultrasound Obstet Gynecol. 2002;20:219–225
  17. Comas C, Torrents M, Munoz A, et al. Measurement of nuchal translucency as a single strategy in trisomy 21 screening: should we use any other marker?. Obstet Gynecol. 2002;100:648–654
  18. Avgidou K, Papageorghiou A, Bindra R, et al. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet and Gynecol. 2005;192:1761–1767
  19. Stenhouse E, Crossley J, Aitken D, et al. First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice. Prenat Diagn. 2004;24:774–780
  20. Has R, Kalelioglu I, Ermis H, et al. Screening for fetal chromosomal abnormalities with nuchal translucency measurement in the first trimester. Fetal Diagn Ther. 2006;21:355–359
  21. Hadlow N, Hewitt B, Dickinson J, et al. Community-based screening for Down's syndrome in the first trimester using ultrasound and maternal serum biochemistry. BJOG. 2005;112:1561–1564
  22. Kagan K, Avgidou K, Molina F, et al. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol. 2006;107:6–10
  23. Atzei A, Gajewska K, Huggon I, et al. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol. 2005;26:154–157
  24. Makrydimas G, Sotiriadis A, Huggon I, et al. Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers. Am J Obstet Gynecol. 2005;192:89–95
  25. McAuliffe F, Hornberger L, Winsor S, et al. Fetal cardiac defects and increased nuchal translucency thickness: a prospective study. Am J Obstet Gynecol. 2004;191:1486–1490
  26. Hui P, Lee C, Tang M, Ho P. Nuchal translucency in pregnancies conceived after assisted reproduction technology. Curr Opin Obstet Gynecol. 2006;18:319–324
  27. Kelekci S, Yilmaz B, Savan K, Sonmez S. Can increased nuchal translucency in the first trimester of pregnancy predict gestational diabetes mellitus. J Obstet Gynaecol. 2005;25:579–582
  28. Spencer K, Heath V, El-Sheikhah A, et al. Ethnicity and the need for correction of biochemical and ultrasound markers of chromosomal anomalies in the first trimester: a study of Oriental, Asian, and Afro-Caribbean populations. Prenat Diagn. 2005;25:365–369
  29. Tonni G, Ventura A, De Gelice C. First trimester increased nuchal translucency associated with achondroplasia. Am J Perinatol. 2005;22:145–148
  30. Venkat-Raman N, Sebire N, Murphy K, et al. Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). Ultrasound Obstet Gynecol. 2005;25:412–414
  31. Nicolaides KH, Chervenak FA, McCullough LB, et al. Evidence-based obstetric ethics and informed decision-making by pregnant women about invasive diagnosis after first-trimester assessment of risk for trisomy 21. Am J Obstet Gynecol. 2005;193:322–326
  32. Van Den Berg M, Timmermans D, Ten Kate L, et al. Are pregnant women making informed choices about prenatal screening?. Genet Med. 2005;7:332–338
  33. Muller M, Bleker O, Bonsel G, Bilardo C. Women's opinions on the offer and use of nuchal translucency screening for Down syndrome. Prenat Diagn. 2006;26:105–111
  34. Muller M, Bleker O, Bonsel G, Bilardo C. Nuchal translucency screening and anxiety levels in pregnancy and puerperium. Ultrasound Obstet Gynecol. 2006;27:357–361
  35. McAuliffe F, Fong K, Toi A, et al. Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study. Am J Obstet Gynecol. 2005;193:1260–1265
  36. Soubieux M. Psychological impact of antenatal diagnosis of increased nuchal transulency a women's pregnancy experience and mother-child relationship. J Gynecol Obstet Biol Reprod. 2005;34:S103
  37. Susanne G, Sissel S, Ulla W, et al. Pregnant women's responses to information about an increased risk of carrying a baby with Down syndrome. Birth. 2006;33:64–73
  38. Snijders RJM, Thom EA, Zachary JM, et al. First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol. 2002;19:353–359
  39. Nuchal Translucency Quality Review Program. Available at: https://www.ntqr.org/SM/wfAboutUs.aspx2006;Retrieved June 18, 2006
  40. Teoh M, Meagher S, Choong S, et al. The effect of image size on screen-positive rates for nuchal translucency screening. BJOG. 2006;113:479–481
  41. Van Heesch P, Schielen P, Wildhagen M, et al. Combined first trimester screening for trisomy 21: lack of agreement between risk calculation methods. J Perinat Med. 2006;34:162–165
  42. Shipp T, Bromley B, Benacerraf B. Is 3-dimensional volume sonography an effective alternative method to the standard 2-dimensional technique of measuring the nuchal translucency?. J Clin Ultrasound. 2006;34:118–122
  43. Odibo A, Stamilio D, Nelson D, et al. A cost-effectiveness analysis of prenatal screening strategies for Down syndrome. Obstet Gynecol. 2005;106:562–568

PII: S1527-3369(07)00188-2

doi: 10.1053/j.nainr.2007.12.008

Newborn and Infant Nursing Reviews
Volume 8, Issue 1 , Pages e1-e6 , March 2008