Absent nasal bone
In fetal sonographic assessment, an absent nasal bone is a feature which can sometimes be used as an adjunctive marker for fetal aneuploidy.
Radiographic assessment
Antenatal ultrasound
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.
Significance
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

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