Nasal
bone hypoplasia in Downs—how difficult to image at 12-13.6 weeks scan !!!! Do
you agree . In his original description of patients with trisomy 21, Langdon
Down reported that the face was flat and the nose was small. Later, many
workers have observed absence of the
nasal bone in 2/3 trisomy 21 fetuses examined at 19–22 weeks of gestation. The
concern is that at 11–14 weeks'
gestation the nasal bone is not visible by ultrasonographic examination in
about 70% of fetuses with trisomy 21 and in less than 1% of chromosomally
normal fetuses. Furthermore, in trisomy 21 fetuses there was no significant
difference in nuchal translucency thickness (NT) between those with and those
without a visible nasal bone. Therefore, these two sonographic markers can be
combined to provide a more effective method of early screening for trisomy 21,
with an estimated detection rate of about 90% for a false‐positive rate of 5%,.
During
the detailed ultrasound examination, which is routinely carried out before mid‐trimester amniocentesis for fetal karyotyping, the fetal
profile and nasal bone are also examined
.The nasal bone was considered to be hypoplastic if it was absent or it
appeared strikingly small, in which case it was measured and found to be always less than 2.5
mm.. In some study of 367 fetuses reporting on nasal bone length,
measured by ultrasonography in normal fetuses, the length increased with
gestation from a mean of 4.7 mm at 15 weeks to 8.2 mm at 22 weeks and the
respective values for the 2.5th centile were 3.2 and 6.0 mm. In a recent study
of 2050 normal fetuses at 15–22 weeks' gestation, the mean nasal bone length
was 4.3 mm and the 2.5th centile was 2.8 mm at 15 weeks, and the respective
values at 22 weeks were 7.5 and 5.6 mm.
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