A histological and radiological investigation of the nasal bone in fetuses with Down syndrome

Objectives Previous studies of nasal bone development in Down syndrome have used radiographs or ultrasound for the detection of nasal bone length or nasal bone absence. The aim of this study was to investigate the presence and size of the nasal bones in postmortem Down syndrome fetuses by means of radiographs and histological examination. Methods Thirty‐three aborted human fetuses (gestational age 14–25 weeks) with Down syndrome were included. A mid‐sagittal tissue block was excised from the skull base to the foramen magnum and along the lateral aspect of the spine. Radiographs of the tissue block were taken in lateral, frontal and axial projections. The length of the nasal bone was measured. The tissue blocks were cut in serial sections and stained. The crown–rump length (CRL), foot length (FL) and number of ossified bones in the hand and foot (CNO) were recorded. Results A total of 8/33 fetuses had bilateral nasal bone absence and two had unilateral absence. In fetuses with radiographically diagnosed nasal bone absence, no nasal bone could be found histologically. The majority of the Down syndrome fetuses had CRL, FL and CNO values within the range of those for normal age‐matched fetuses. Nasal bone length was normal or reduced. Conclusions Absence of the nasal bone was registered by postmortem examination in one‐third of fetuses with Down syndrome. In some fetuses this could be a result of delayed maturation associated with Down syndrome. The phenotypic differences in nasal bone appearance may reflect genotypic differences in the Down syndrome group. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.