Consult the medical resource doctors trust

UpToDate is one of the most respected medical information resources in the world, used by over 360,000 doctors and thousands of patients to find answers to medical questions.

  • Content written by a faculty of over 4,000 physicians from leading medical institutions
  • Unbiased: free of advertising or pharmaceutical funding
  • Evidence-based treatment recommendations
  • Continuously updated to incorporate new medical findings

First trimester and integrated screening for Down syndrome and trisomy 18

INTRODUCTION

First trimester and integrated screening tests for Down syndrome and trisomy 18 will be reviewed here. Other aspects of Down syndrome screening are discussed separately:

A glossary of terms describing the various tests used in first and second trimester screening for Down syndrome is provided in the table (table 1).

FIRST TRIMESTER COMBINED TEST

There are obvious advantages to performing Down syndrome screening early in pregnancy. Early diagnosis of fetal abnormalities allows the couple maximum time for decision making; privacy, since others may not be aware of the pregnancy; and, if chosen, safer methods of pregnancy termination.

First trimester Down syndrome screening is optimally done in the late first trimester, between 9 and 13 weeks of gestation, depending on which markers are used [1]. The first trimester screening test consists of three markers [2,3]:
To continue reading this article you need to subscribe.

Read the rest of this article and others like it

The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use (click here) ©2009 UpToDate, Inc.
References Top
  1. Reddy, UM, Mennuti, MT. Incorporating First-Trimester Down Syndrome Studies Into Prenatal Screening: Executive Summary of the National Institute of Child Health and Human Development Workshop. Obstet Gynecol 2006; 107:167.
  2. Canick, JA, Kellner, LH. First trimester screening for aneuploidy: serum biochemical markers. Semin Perinatol 1999; 23:359.
  3. Wald, NJ, Hackshaw, AK. Combining ultrasound and biochemistry in first-trimester screening for Down's syndrome. Prenat Diagn 1997; 17:821.
  4. Spencer, K, Macri, JN, Aitken, DA, Connor, JM. Free beta-hCG as first-trimester marker for fetal trisomy. Lancet 1992; 339:1480.
  5. Haddow, JE, Palomaki, GE, Knight, GJ, et al. Screening of maternal serum for fetal Down's syndrome in the first trimester. N Engl J Med 1998; 338:955.
  6. Wald, NJ, George, L, Smith, D, et al. Serum screening for Down's syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research Group. Br J Obstet Gynaecol 1996; 103:407.
  7. Canick, JA, Lambert-Messerlian, GM, Palomaki, GE, et al. Comparison of serum markers in first-trimester Down syndrome screening. Obstet Gynecol 2006; 108:1192.
  8. Palomaki, GE, Lambert-Messerlian, GM, Canick, JA. A summary analysis of Down syndrome markers in the late first trimester. Adv Clin Chem 2007; 43:177.
  9. Nicolaides, KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004; 191:45.
  10. Crossley, JA, Aitken, DA, Cameron, AD, et al. Combined ultrasound and biochemical screening for Down's syndrome in the first trimester: a Scottish multicentre study. BJOG 2002; 109:667.
  11. Krantz, DA, Hallahan, TW, Orlandi, F, et al. First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol 2000; 96:207.
  12. Wapner, R, Thom, E, Simpson, JL, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349:1405.
  13. Spencer, K, Spencer, CE, Power, M, et al. One stop clinic for assessment of risk for fetal anomalies: a report of the first year of prospective screening for chromosomal anomalies in the first trimester. BJOG 2000; 107:1271.
  14. Muller, F, Benattar, C, Audibert, F, et al. First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers. Prenat Diagn 2003; 23:833.
  15. 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.
  16. Avgidou, K, Papageorghiou, A, Bindra, R, et al. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet Gynecol 2005; 192:1761.
  17. Wald, NJ, Rodeck, C, Hackshaw, AK, et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol Assess 2003; 7:1.
  18. Malone, FD, Canick, JA, Ball, RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005; 353:2001.
  19. Cusick, W, Buchanan, P, Hallahan, TW, et al. Combined first-trimester versus second-trimester serum screening for Down syndrome: A cost analysis. Am J Obstet Gynecol 2003; 188:745.
  20. Evans, MI, Krantz, DA, Hallahan, TW, Galen, RS. Meta-analysis of first trimester Down syndrome screening studies: free beta-human chorionic gonadotropin significantly outperforms intact human chorionic gonadotropin in a multimarker protocol. Am J Obstet Gynecol 2007; 196:198.
  21. Spencer, K, Crossley, JA, Aitken, DA, et al. Temporal changes in maternal serum biochemical markers of trisomy 21 across the first and second trimester of pregnancy. Ann Clin Biochem 2002; 39:567.
  22. Szabo, J, Gellen, J. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet 1990; 336:1133.
  23. Nicolaides, KH, Azar, G, Byrne, D, et al. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992; 304:867.
  24. Wald, NJ, Rodeck, C, Hackshaw, AK, Rudnicka, A. SURUSS in perspective. BJOG 2004; 111:521.
  25. Spencer, K, Bindra, R, Nix, AB, et al. Delta-NT or NT MoM: which is the most appropriate method for calculating accurate patient-specific risks for trisomy 21 in the first trimester?. Ultrasound Obstet Gynecol 2003; 22:142.
  26. Kornman, LH, Morssink, LP, Beekhuis, JR, et al. Nuchal translucency cannot be used as a screening test for chromosomal abnormalities in the first trimester of pregnancy in a routine ultrasound practice. Prenat Diagn 1996; 16:797.
  27. Mol, BW, Lijmer, JG, van der, Meulen J, et al. Effect of study design on the association between nuchal translucency measurement and Down syndrome. Obstet Gynecol 1999; 94:864.
  28. Schielen, PC, van Leeuwen-Spruijt, M, Belmouden, I, et al. Multi-centre first-trimester screening for Down syndrome in the Netherlands in routine clinical practice. Prenat Diagn 2006; 26:711.
  29. Mennuti, MT, Driscoll, DA. Screening for Down's syndrome--too many choices?. N Engl J Med 2003; 349:1471.
  30. Lambert-Messerlian, GM, Palomaki, GE, Knight, et al. Dimeric inhibin-A as a marker for Down syndrome in the first trimester. Am Coll Med Genet, 2004 Ann Clin Genet Mtg, Mar 4-7, Orlando, FL, Abstr No 63.
  31. Wald, NJ, Watt, HC, Hackshaw, AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999; 341:461.
  32. Rausch, DN, Lambert-Messerlian, GM, Canick, JA. Participation in maternal serum screening following screen positive results in a previous pregnancy. J Med Screen 2000; 7:4.
  33. Palomaki, GE, Steinort, K, Knight, GJ, Haddow, JE. Comparing three screening strategies for combining first- and second-trimester Down syndrome markers. Obstet Gynecol 2006; 107:367.
  34. Platt, LD, Greene, N, Johnson, A, et al. Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol 2004; 104:661.
  35. ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal Abnormalities. Obstet Gynecol 2007; 109:217.
  36. Wright, D, Bradbury, I, Benn, P, et al. Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening. Prenat Diagn 2004; 24:762.
  37. ACOG Committee Opinion #296: first-trimester screening for fetal aneuploidy. Obstet Gynecol 2004; 104:215.
  38. Wald, NJ, Rudnicka, AR, Bestwick, JP. Sequential and contingent prenatal screening for Down syndrome. Prenat Diagn 2006; 26:769.
  39. Ball, RH, et al. FIrst- and second-trimester evaluation of risk for Down syndrome. Obstet Gynecol 2007; 110:10.
  40. Cuckle, HS, Malone, FD, Wright, D, et al. Contingent screening for Down syndrome--results from the FaSTER trial. Prenat Diagn 2008; 28:89.
  41. Gekas, J, Gagne, G, Bujold, E, et al. Comparison of different strategies in prenatal screening for Down's syndrome: cost effectiveness analysis of computer simulation. BMJ 2009; 338:453.
  42. Tul, N, Spencer, K, Noble, P, et al. Screening for trisomy 18 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 1999; 19:1035.
  43. Lambert-Messerlian, G, Canick, J, Malone, F, Porter, F, et al. First trimester levels of maternal serum hCG and inhibin A in pregnancies affected by fetal trisomy 18: A FASTER Trial study. Annual Meeting of the American College of Medical Genetics, Orlando, FL, March 4-7, 2004.
  44. Breathnach, FM, Malone, FD, Lambert-Messerlian, G, et al. First- and Second-Trimester Screening: Detection of Aneuploidies Other Than Down Syndrome. Obstet Gynecol 2007; 110:651.
  45. Palomaki, GE, Neveux, LM, Knight, GJ, Haddow, JE. Maternal serum-integrated screening for trisomy 18 using both first- and second-trimester markers. Prenat Diagn 2003; 23:243.
  46. Kagan, KO, Wright, D, Valencia, C, et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 23:1968.
  47. Kagan, KO, Avgidou, K, Molina, FS, et al. Relation between increasesd fetal nuchal translucency thickness and chormosomal defects. Obstet Gynecol 2006; 107:6.
white circle LOG IN
white circle DEMO