Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in second-trimester screening for Down syndrome

Objective Three-dimensional (3D) ultrasound of the fetal face with maximal mode rendering allows accurate visualization of the bony face and the distinct demonstration of both nasal bones in second-trimester fetuses. The aim of this study was to analyze the feasibility of assessing nasal bones spatially on prenatal ultrasound in second-and tbird-trimester fetuses with present and absent nasal bones. Methods The faces of 38 fetuses between 17 and 33 weeks' gestation were examined with 3D ultrasound and volumes were stored for offline evaluation. Eighteen fetuses bad normal karyotype and an apparently normal nasal bone on 2D ultrasound; these were examined to standardize the 3D rendering technique. Twenty fetuses bad trisomy 21. Results In all 18 healthy fetuses both nasal bones could be demonstrated on 3D ultrasound. Nine of the 20 Down syndrome fetuses bad a hypoplastic or absent nasal bone on two-dimensional ultrasound. On 3D ultrasound three of the nine bad discrepant findings between left and right nasal bones with evidence of absence of one side, and hypoplasia (n = 2) or normal length (n = 1) of the other. Conclusions Unilateral absence or hypoplasia of nasal bones is an important and new observation in fetuses with Down syndrome. This differentiation is best demonstrated on 3D ultrasound with maximal mode rendering. This observation of unilaterality of findings could explain some discrepant findings on absence of nasal bones on two-dimensional ultrasound but their 'presence' on lateral postmortem radioagraph. Copyright (C) 2004 ISUOG. Published by John Wiley Sons, Ltd.