In fetal sonographic assessment, an absent nasal bone is a feature which can sometimes be used as an adjunctive marker for fetal aneuploidy.
It is assessed on a midline sagittal view. There nasal bone is often seen as a bright echogenic line. It is best measured at around the 11th to 14th weeks of gestation (1st trimester). A magnified image may assist in visualisation.
When the mid sagittal view is difficult to assess, some authors suggest coronal view of the fetal face to look for paired echogenic structures located at the upper tip of the retronasal triangle 6.
The reported prevalence range of an absent nasal bone on ultrasound for euploid as well as the following aneuploidic states are
- euploid : nasal bone absent in ~ 0.5 - 3 % 1-2
- trisomy 21 : nasal bone absent in ~ 60 - 73 % 1-3
- trisomy 18 : nasal bone absent in ~ 53 - 57 % 1,3
- trisomy 13 : nasal bone absent in ~ 32 - 45 % 1,3
- Turner syndrome : nasal bone absent in ~ 9 % 3
- 1. Kagan KO, Cicero S, Staboulidou I et-al. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol. 2009;33 (3): 259-64. doi:10.1002/uog.6318 - Pubmed citation
- Cicero S, Curcio P, Papageorghiou A et-al. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet. 2001;358 (9294): 1665-7. doi:10.1016/S0140-6736(01)06709-5 - Pubmed citation
- 3. Cicero S, Longo D, Rembouskos G et-al. Absent nasal bone at 11-14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol. 2003;22 (1): 31-5. doi:10.1002/uog.170 - Pubmed citation
- 4. Has R, Kalelioglu I, Yuksel A et-al. Fetal nasal bone assessment in first trimester down syndrome screening. Fetal. Diagn. Ther. 2008;24 (1): 61-6. doi:10.1159/000132409 - Pubmed citation
- 5. Sepulveda W, Wong AE, Dezerega V. First-trimester sonographic findings in trisomy 18: a review of 53 cases. Prenat. Diagn. 2010;30 (3): 256-9. doi:10.1002/pd.2462 - Pubmed citation
- 6. Martinez-ten P, Adiego B, Perez-pedregosa J et-al. First-trimester assessment of the nasal bones using the retronasal triangle view: a 3-dimensional sonographic study. J Ultrasound Med. 2010;29 (11): 1555-61. J Ultrasound Med (full text) - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Absence of nasal bone||✗|
|Nasal bone absence||✗|