Nasal bone assessment in prenatal screening for trisomy 21

American Journal of Obstetrics and Gynecology

Volumn 195, Issue 5, 2006, Pages 1219-1230

  Sonek, J D ^a   Cicero, S ^b   Neiger, R ^c   Nicolaides, K H ^d  

^a OHIO STATE UNIVERSITY   (United States)

^b Fetal Medicine Foundation   (United Kingdom)

^c WRIGHT STATE UNIVERSITY   (United States)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Chromosomal defects; Histomorphology; Nasal bone absence; Nasal bone hypoplasia; Prenatal screening; Trisomy 21; Ultrasound; X ray

Indexed keywords

ANTHROPOMETRY; BONE MALFORMATION; COMPARATIVE STUDY; FETUS DEVELOPMENT; HUMAN; HYPOPLASIA; NASAL BONE; OUTCOME ASSESSMENT; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; RADIODIAGNOSIS; REVIEW; TRISOMY 21; ULTRASOUND;

DOWN SYNDROME; FEMALE; GESTATIONAL AGE; HUMANS; IMAGING, THREE-DIMENSIONAL; NASAL BONE; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PREGNANCY TRIMESTER, THIRD; ULTRASONOGRAPHY, PRENATAL;

EID: 33748801598     PISSN: 00029378     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajog.2005.11.042     Document Type: Review

References (56)

1. Down L.J. Observations on an ethnic classification of idiots. Clinical Lectures and Reports. London Hospital 3 (1866) 259-262
2. Enlow D.H. Facial growth. 3rd ed. (1990), WB Saunders, Philadephia
3. Beck J.C., and Sie K.C.Y. The growth and development of the nasal airway. Functional Reconstructive Rhinoplasty 2 (1999) 57-62
4. Larsen W.J. Human embryology. 3rd ed. (2001), Churchill Livingstone, London p. 368
5. Sperber G.H. Craniofacial embryology. 4th ed. (1989), Wright, Butterworths, London p. 104-24
6. Williams P.L., Warwick R., Dyson M., and Bannister L. Gray's anatomy. 37th ed. (1989), Churchill Livingstone, London p. 386
7. Sandikcioglu M., Molsted K., and Kjaer I. The prenatal development of the human nasal and vomeral bones. J Craniofac Genet Dev Biol 14 (1994) 124-134
8. Peralta C.F., Falcon O., Wegrzyn P., Faro C., and Nicolaides K.H. 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 (2005) 464-467
9. Farkas L.G., Katic M.J., Forrest C.R., and Litsas L. Surface anatomy of the face in Down's syndrome: linear and angular measurements in the craniofacial regions. J Craniofac Surg 12 (2001) 373-379
10. Keeling J.W., Hansen B.F., and Kjaer I. Pattern of malformation in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 68 (1997) 466-471
11. Stempfle N., Huten Y., Fredouille C., Brisse H., and Nessmann C. Skeletal bnormalities in fetuses with Down's syndrome: a radiologic postmortem study. Pediatr Radiol 29 (1999) 682-688
12. Tuxen A., Keeling J.W., Reintoft I., Fischer Hansen B., Nolting D., and Kjaer I. A histological and radiological investigation of the nasal bone in fetuses with Down syndrome. Ultrasound Obstet Gynecol 22 (2003) 22-26
13. Larose C., Massoc P., Hillion Y., Bernard J.P., and Ville Y. Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: A prospective observational study. Ultrasound Obstet Gynecol 22 (2003) 27-30
14. Sonek J., and Nicolaides K. Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome. Am J Obstet Gynecol 186 (2002) 139-141
15. Bouley R., and Sonek J. Fetal nasal bone: the technique. Down's Screening News 10 (2003) 33-34
16. Sonek J.D., and Cicero S. Ultrasound evaluation of the fetal nasal bone: the technique (an update). Down's Screening News 11 (2004) 25
17. Goncalves L.F., Espinoza J., Lee W., and Romero R. Should the frontal bone be visualized in the midline sagittal views of the facial profile to assess the fetal nasal bones during the first trimester? (Letter to the editor). Ultrasound Obstet Gynecol 25 (2005) 90-94
18. Orlandi F., Rossi C., Orlandi E., Jakil M.C., Hallahan T.W., Macri V.J., et al. First-trimester screening for trisomy-21 using a simplified method to assess the presence or absence of the fetal nasal bone. Am J Obstet Gynecol 192 (2005) 1107-1111
19. Cicero S., Dezerega V., Andrade E., Scheier M., and Nicolaides K.H. Learning curve for sonographic examination of the fetal nasal bone at 11-14 weeks. Ultrasound Obstet Gynecol 22 (2003) 135-137
20. Cicero S., Curcio P., Papageorghiou A., Sonek J., and Nicolaides K. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet 358 (2001) 1665-1667
21. Otano L., Aiello H., Igarzabal L., Matayoshi T., and Gadow E.C. Association between first trimester absence of fetal nasal bone on ultrasound and Down's syndrome. Prenat Diagn 22 (2002) 930-932
22. Zoppi M.A., Ibba R.M., Axiana C., Floris M., Manca F., and Monni G. Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies. Prenat Diagn 23 (2003) 496-500
23. Orlandi F., Bilardo C.M., Campogrande M., Krantz D., Hallahan T., Rossi C., et al. Measurement of nasal bone length at 11-14 weeks of pregnancy and its potential role in Down syndrome risk assessment. Ultrasound Obstet Gynecol 22 (2003) 36-39
24. Viora E., Masturzo B., Errante G., Sciarrone A., Bastonero S., and Campogrande M. Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetuses. Prenat Diagn 23 (2003) 784-787
25. Senat M.V., Bernard J.P., Boulvain M., and Ville Y. Intra- and interoperator variability in fetal nasal bone assessment at 11-14 weeks of gestation. Ultrasound Obstet Gynecol 22 (2003) 138-141
26. Wong S.F., Choi H., and Ho L.C. Nasal bone hypoplasia: is it a common finding amongst chromosomally normal fetuses of southern Chinese women?. Gynecol Obstet Invest 56 (2003) 99-101
27. Cicero S., Longo D., Rembouskos G., Sacchini C., and Nicolaides K.H. Absent nasal bone at 11-14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol 22 (2003) 31-35
28. Cicero S., Rembouskos G., Vandecruys H., Hogg M., and Nicolaides K.H. Likelihood ratio for Trisomy 21 in fetuses with absent nasal bone at the 11-14 weeks scan. Ultrasound Obstet Gynecol 23 (2004) 218-223
29. Prefumo F., Sairam S., Bhide A., Penna L., Hollis B., and Thilaganathan B. Maternal ethnic origin and fetal nasal bones at 11-14 weeks of gestation. BJOG 111 (2004) 109-112
30. Malone F.D., Ball R.H., Nyberg D.A., Comstock C.H., Saade G., Berkowitz R.L., et al., FASTER Research Consortium. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet Gynecol 104 (2004) 1222-1228
31. D'Alton M.E., Malone F.D., Lambert-Messerlian G., Ball R.H., Nyberg D.A., Comstock C.H., et al. Maintaining quality assurance fro nuchal tranlsucency songraphy in a prospective multicenter study: results from the FASTER trial (abstract 59). Am J Obstet Gynecol 189 (2004) S79
32. Bromley B., Lieberman E., Shipp T., and Benaceraff B. Fetal nasal bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med 21 (2002) 1387-1394
33. Cicero S., Sonek J., McKenna D., Croom C., Johnson L., and Nicolaides K. Nasal bone hypoplasia in fetuses with Trisomy 21 at 15-22 weeks' gestation. Ultrasound Obstet Gynecol 21 (2003) 15-18
34. Vintzileos A., Walters C., and Yeo L. Absent nasal bone in the prenatal detection of fetuses with trisomy 21 in a high-risk population. Obstet Gynecol 101 (2003) 905-908
35. Odibo A.O., Sehdev H.M., Dunn L., McDonald R., and Macones G.A. The association between fetal nasal bone hyplasia and aneuploidy. Obstet Gynecol 104 (2004) 1229-1233
36. Cusick W., Provenzano J., Sullivan C., Gallousis F., and Rodis J. Fetal nasal bone length in euploid and aneuploid fetuses between 11 and 20 weeks' gestation: a prospective study. J Ultrasound Med 23 (2004) 1327-1333
37. Tran L., Carr D., Mitsumori L., Uhrich S., and Shields L. Second-trimester biparietal diameter/nasal bone length ratio as an independent predictor of trisomy 21. J Ultrasound Med 24 (2005) 805-810
38. Benoit B., and Chaoui R. Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in second-trimester screening for Down syndrome. Ultrasound Obstet Gynecol 25 (2005) 19-24
39. Guis F., Ville Y., Doumerc S., Pons J., and Frydman R. Ultrasound evaluation of the length of the fetal nasal bones throughout gestation. Ultrasound Obstet Gynecol 5 (1995) 304-307
40. Sonek J., McKenna D., Webb D., Croom C., and Nicolaides K. Nasal bone length throughout gestation: normal ranges based on 3537 fetal ultrasound measurements. Ultrasound Obstet Gynecol 21 (2003) 152-155
41. Bunduki V., Ruano J., Miguelez J., Yoshizaki C., Kahhale S., and Zugaib M. Fetal bone length: reference range and clinical application in ultrasound screening for Trisomy 21. Ultrasound Obstet Gynecol 21 (2003) 156-160
42. Cicero S., Bindra R., Rembouskos G., Tripsanas C., and Nicolaides K. Fetal nasal bone length in chromosomally normal and abnormal fetuses at 11-14 weeks of gestation. J Matern Fetal Neonatal Med 11 (2002) 400-402
43. Gamez F., Ferreiro P., and Salmean J.M. Ultrasonographic measurement of fetal nasal bone in a low risk population at 19-22 gestational weeks. Ultrasound Obstet Gynecol 22 (2003) 152-153
44. Rembouskos G., Cicero S., Longo D., Vandecruys H., and Nicolaides K.H. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound. Ultrasound Obstet Gynecol 23 (2004) 232-236
45. Lee W., DeVore G.R., Comstock C.H., Kalache K.D., McNie B., Chaiworapongsa T., et al. Nasal bone evaluation in fetuses with Down syndrome during the second and third trimesters of pregnancy. J Ultrasound Med 22 (2003) 55-60
46. Goncalves L.F., Espinoza J., Lee W., Schoen M.L., Devers P., Mazor M., et al. Phenotypic characteristics of absent and hypoplastic nasal bones in fetuses with Down syndrome: description by 3-dimensional ultrasonography and clinical significance. J Ultrasound Med 23 (2004) 1619-1627
47. Nicolaides K.H. Nuchal translucency and other first trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 191 (2004) 45-67
48. Cicero S., Bindra R., Rembouskos G., Spencer K., and Nicolaides K.H. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks. Prenat Diagn 23 (2003) 306-310
49. Kanellopoulos V., Katsetos C., and Economides D.L. Examination of fetal nasal bone and repeatability of measurement in early pregnancy. Ultrasound Obstet Gynecol 22 (2003) 131-134
50. Nicolaides K.H., Spencer K., Avgidou K., Faiola S., and Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 25 (2005) 221-226
51. Matias A., Gomes C., Flack N., Montenegro N., and Nicolaides K.H. Screening for chromosomal abnormalities at 11-14 weeks: the role of ductus venosus flow. Ultrasound Obstet Gynecol 2 (1998) 380-384
52. Huggon I.C., DeFigueiredo D.B., and Allan L.D. Tricuspid regurgitation in the diagnosis of chormosomal anomalies in the feuts at 11-14 weeks of gestation. Heart 89 (2003) 1071-1073
53. Cicero S, Avgidou K, Rembouskos G, Kafan KO, Nicolaides KH. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006 in press.
54. Nyberg D.A., Souter V.L., El-Bastawissi A., Young S., Luthhardt F., and Luthy D.A. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 20 (2001) 1053-1063
55. Bromley B., Lieberman E., Shipp T.D., and Benacerraf B.R. The genetic sonogram: a method of risk asssessment for Down syndrome in the second trimester. J Ultrasound Med 21 (2002) 1087-1096
56. Nicolaides K.H. Screening for chromosomal defects. Ultrasound Obstet Gynecol 21 (2003) 313-321