Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy

Prenatal Diagnosis

Volumn 29, Issue 1, 2009, Pages 62-68

  Borrell, Antoni ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

Ductus venosus; Fetal imaging; Fetal ultrasound; Maternal serum screening; Nasal bone; Nuchal translucency; Tricuspid regurgitation

Indexed keywords

ANEUPLOIDY; ARTIFACT; ARTIFACT REDUCTION; CONFERENCE PAPER; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC ERROR; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST; FALSE POSITIVE RESULT; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GESTATIONAL AGE; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING;

ANEUPLOIDY; BIOLOGICAL MARKERS; CLINICAL COMPETENCE; DIAGNOSTIC ERRORS; DOWN SYNDROME; FEMALE; HUMANS; MATERNAL AGE; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND;

EID: 59449090272     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2182     Document Type: Conference Paper

References (48)

1. Azar GB, Snijders RJ, Gosden C, Nicolaides KH. 1991. Fetal nuchal cystic hygromata: associated malformations and chromosomal defects. Fetal Diagn Ther 6(1-2): 46-57.
2. Bindra R, Heath V, Liao A, Spencer K, Nicolaides KH. 2002. One- stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15 030 pregnancies. Ultrasound Obstet Gynecol 20(3): 219- 225.
3. Borenstein M, Persico N, Kaihura C, Sonek J, Nicolaides KH. 2007. Frontomaxillary facial angle in chromosomally normal fetuses at 11 + 0to 13 + 6 weeks. Ultrasound Obstet Gynecol 30(5): 737-741.
4. Borrell A. 2004. The ductus venosus in early pregnancy and congenital anomalies. Prenat Diagn 24(9): 688-692, Review.
5. Brizot ML, Carvalho MH, Liao AW, Reis NS, Armbruster-Moraes E, Zugaib M. 2001. First-trimester screening for chromosomal abnormalities by fetal nuchal translucency in a Brazilian population. Ultrasound Obstet Gynecol 18(6): 652-655.
6. Bromley B, Lieberman E, Shipp TD, Benacerraf BR. 2002. The genetic sonogram: a method of risk assessment for Down syndrome in the second trimester. J Ultrasound Med 21(10): 1087-1096, Quiz 1097-8.
7. Chervenak FA, Isaacson G, Blakemore KJ, et al. 1983. Fetal cystic hygroma. Cause and natural history. N Engl J Med 309(14): 822-825.
8. Cicero S, Rembouskos G, Vandecruys H, Hogg M, Nicolaides KH. 2004. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone al the 11-14-week scan. Ultrasound Obstet Gynecol 23: 218 -223.
9. de Graaf IM, Müller MA, van Zuylen-Vié AA, Bleker OP, Bilardo CM. 2000. The influence of fetal position on nuchal translucency thickness. Ultrasound Obstet Gynecol 15(6): 520-522.
10. Edwards A, Mulvey S, Wallace EM. 2003. The effect of image size on nuchal translucency measurement. Prenat Diagn 23(4): 284-286.
11. Evans MI, Van Decruyes H, Nicolaides KH. 2007. Nuchal translucency measurements for first-trimester screening: the 'price' of inaccuracy. Fetal Diagn Ther 22(6): 401 -404.
12. Falcon O, Faiola S, Huggon I, Allan L, Nicolaides KH. 2006. Fetal tricuspid regurgitation at the 11 + 0to 13 + 6-week scan: association with chromosomal defects and reproducibility of the method. Ultrasound Obstet Gynecol 27(6): 609-612.
13. Fetal Medicine Foundation. 2008. Downs Screening at 11-13 + 6 Weeks. http://www.fetalmedicine.com/downs/intro.htm.
14. Fries N, Althuser M, Fontanges M, et al. 2007. Quality control of an image-scoring method for nuchal translucency ultrasonography. Am J Obstet Gynecol 196(3): 272.e1 -272.e5.
15. Gyselaers WJ, Vereecken AJ, Van Herck EJ, et al. 2004. Audit on nuchal translucency thickness measurements in Flanders, Belgium: a plea for methodological standardization. Ultrasound Obstet Gynecol 24(5): 511-515.
16. Haddow JE, Palomaki GE, Knight GJ, Williams J, Miller WA, Johnson A. 1998. Screening of maternal serum for fetal Down's syndrome in the first trimester. N Engl J Med 338(14): 955-961.
17. Herman A, Dreazen E, Samandarov A, Bukovsky Y, Weinraub Z, Maymon R. 2000. On-to-on versus on-to-out nuchal translucency measurements. Ultrasound Obstet Gynecol 15(2): 126-130.
18. Herman A, Maymon R, Dreazen E, Caspi E, Bukovsky I, Weinraub Z. 1998a. Image magnification does not contribute to the repeatability of caliper placement in measuring nuchal translucency thickness. Ultrasound Obstet Gynecol 11(4): 266-270.
19. Herman A, Maymon R, Dreazen E, Caspi E, Bukovsky I, Weinraub Z. 1998b. Nuchal translucency audit: a novel image-scoring method. Ultrasound Obstet Gynecol 12(6): 398-403.
20. Maiz N, Kagan KO, Milovanovic Z, Celik E, Nicolaides KH. 2008a. Learning curve for Doppler assessment of ductus venosus flow at 11 + 0to13 + 6 weeks' gestation. Ultrasound Obstet Gynecol 31(5): 503-506.
21. Maiz N, Plasencia W, Dagklis T, Faros E, Nicolaides K. 2008b. Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness. Ultrasound Obstet Gynecol 31(3): 256-260.
22. Malone FD, Ball RH, Nyberg DA, et al. 2004. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet Gynecol 104(6): 1222-1228.
23. Malone FD, Ball RH, Nyberg DA, FASTER Trial Research Consortium. 2005a. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol 106(2): 288-294.
24. Malone FD, Canick JA, Ball RH, et al. 2005b. First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 353(19): 2001-2011.
25. Molina FS, Avgidou K, Kagan KO, Poggi S, Nicolaides KH. 2006. Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation. Obstet Gynecol 107(3): 678-683.
26. Mulvey S, Baker L, Edwards A, Oldham J, Shekleton P, Wallace EM. 2002. Optimising the timing for nuchal translucency measurement. Prenat Diagn 22(9): 775-777.
27. Nicolaides KH. 2003. Screening for chromosomal defects. Ultrasound Obstet Gynecol 21(4): 313-321.
28. +6 weeks scan' book, http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf.
29. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. 1992. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 304(6831): 867-869.
30. Nyberg DA, Souter VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA. 2001. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 20(10): 1053-1063.
31. Oh C, Harman C, Baschat AA. 2007. Abnormal first-trimester ductus venosus blood flow: a risk factor for adverse outcome in fetuses with normal nuchal translucency. Ultrasound Obstet Gynecol 30(2): 192-196.
32. Palomaki GE, Neveux LM, Donnenfeld A, et al. 2008. Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective. Genet Med 10(2): 131-138.
33. Peralta CFA, Falcon O, Wegrzyn P, Faro C, Nicolaides KH. 2005. Assessment of the gap between the fetal nasal bones at 11 to 13 + 6 weeks of gestation by three-dimensional ultrasound. Ultrasound Obstet Gynecol 25(5): 464-467.
34. Plasencia W, Dagklis T, Pachoumi C, Kolitsi E, Nicolaides KH. 2007. Frontomaxillary facial angle at 11 + 0to13+ 6 weeks: effect of plane of acquisition. Ultrasound Obstet Gynecol 29(6): 660-665.
35. Roberts LJ, Bewley S, Mackinson AM, Rodeck CH. 1995. First trimester fetal nuchal translucency: problems with screening the general population 1. Br J Obstet Gynaecol 102(5): 381-385.
36. Saltvedt S, Almström H, Kublickas M, et al. 2005. Screening for Down syndrome based on maternal age or fetal nuchal translucency: a randomized controlled trial in 39,572 pregnancies. Ultrasound Obstet Gynecol 25(6): 537-545.
37. Senat MV, Bernard JP, Boulvain M, Ville Y. 2003. Intra- and interoperator variability in fetal nasal bone assessment at 11-14 weeks of gestation. Ultrasound Obstet Gynecol 22(2): 138-141.
38. Shipp TD, Bromley B, Benacerraf B. 2006. Is 3-dimensional volume sonography an effective alternative method to the standard 2- dimensional technique of measuring the nuchal translucency? J Clin Ultrasound 34(3): 118-122.
39. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH, Fetal Medicine Foundation First Trimester Screening Group. 1998. 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 352(9125): 343-346.
40. Snijders RJ, Thom EA, Zachary JM, et al. 2002. First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol 19(4): 353-359.
41. Sonek J, Borenstein M, Dagklis T, et al. 2007. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13 + 6 weeks. Am J Obstet Gynecol 196(3): 271.e1-271.e4.
42. Teoh M, Meagher SE, Choong S, Shekleton P, Wallace EM. 2006. The effect of image size on screen-positive rates for nuchal translucency screening. BJOG 113(4): 479-481.
43. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM, SURUSS Research Group. 2003. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol Assess 7(11): 1-77.
44. Whitlow BJ, Chatzipapas IK, Economides DL. 1998. The effect of fetal neck position on nuchal translucency measurement. Br J Obstet Gynaecol 105(8): 872-876.
45. Whitlow BJ, Economides DL. 1998. The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 11(4): 258 - 261.
46. Wøjdemann KR, Christiansen M, Sundberg K, Larsen SO, Shalmi A, Tabor A. 2001. Quality assessment in prospective nuchal translucency screening for Down syndrome. Ultrasound Obstet Gynecol 18(6): 641-644.
47. Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. 2008. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 31(4): 376-383.
48. Zohav E, Dunsky A, Segal O, Peled R, Herman A, Segal S. 2001. The effects of maternal and fetal parameters on the quality of nuchal translucency measurement. Ultrasound Obstet Gynecol 18(6): 638-640.