Hypoplastic nasal bone
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Hypoplasia of the nasal bone refers to a sonographic observation where the fetal nasal bone appears smaller by varying degrees.
There is a spectrum of nasal bone hypoplasia, at one end of which is the relatively easily identified absent nasal bone. The other end of the spectrum is considerably harder to define, particularly when used as a screening tool (see below).
0.5-1.2% of normal fetuses have been found to have a hypoplastic nasal bone on a routine 2nd trimester scan, compared to 43-62% of fetuses with Down syndrome 5.
Down syndrome: nasal bone hypoplasia has emerged as one of the strongest morphological markers of trisomy 21 to date
- it relates to the phenotypical observation that individuals with Down syndrome have short noses; as well as a growing body of supportive radiological data
- fetal warfarin syndrome is a rare association
The nasal bone is best assessed in the second trimester, and its measurement is a standard component of a routine 2nd trimester ultrasound. It is assessed on a midsagittal view of the fetal face. Ideally, three echogenic lines should be seen.
The difficulty in defining nasal bone hypoplasia has historically lead to the development of various criteria, based on measurements such as BPD: nasal bone ratio 7, gestational age-adjusted nasal bone length, or a single cut-off definition (2.5 mm) 8.
Many practices now favor the use of data sets that define normal nasal bone length by gestational age, such as that by Obido et al. published in 2007 1. More recently Mogra et al. published a normative data set based on an Australian multiethnic population, and this has now superseded the earlier data sets in some Australian centers 9.
- 1. Odibo AO, Sehdev HM, Stamilio DM et-al. Defining nasal bone hypoplasia in second-trimester Down syndrome screening: does the use of multiples of the median improve screening efficacy? Am. J. Obstet. Gynecol. 2007;197 (4): 361.e1-4. doi:10.1016/j.ajog.2007.08.031 - Pubmed citation
- 2. Sonek JD, Cicero S, Neiger R et-al. Nasal bone assessment in prenatal screening for trisomy 21. Am. J. Obstet. Gynecol. 2006;195 (5): 1219-30. doi:10.1016/j.ajog.2005.11.042 - Pubmed citation
- 3. Shanks A, Odibo A. Nasal bone in prenatal trisomy 21 screening. Obstet Gynecol Surv. 2010;65 (1): 46-52. doi:10.1097/OGX.0b013e3181c9bafc - Pubmed citation
- 4. 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
- 5. Kumar S. Handbook of Fetal Medicine. Cambridge Univ Pr. (2010) ISBN:0521675367. Read it at Google Books - Find it at Amazon
- 6. Goldberg BB, McGahan JP. Atlas of ultrasound measurements. Mosby Inc. (2006) ISBN:032303229X. Read it at Google Books - Find it at Amazon
- 7. Bromley B, Lieberman E, Shipp TD et-al. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med. 2002;21 (12): 1387-94. J Ultrasound Med (full text) - Pubmed citation
- 8. Cicero S, Sonek JD, Mckenna DS et-al. Nasal bone hypoplasia in trisomy 21 at 15-22 weeks' gestation. Ultrasound Obstet Gynecol. 2003;21 (1): 15-8. doi:10.1002/uog.19 - Pubmed citation
- 9. Mogra R, Schluter P, Ogle R et-al. Normal ranges for fetal nasal bone length determined by ultrasound at 18-20 weeks of gestation in a multiethnic Australian population. Aust N Z J Obstet Gynaecol. 2011;51 (4): 347-52. doi:10.1111/j.1479-828X.2011.01315.x - Pubmed citation