Brachycephaly and frontal lobe hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks.

Objective: To investigate the incidence of brachycephaly and frontal lobe hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation.

Methods: A three-dimensional (3D) volume of the fetal head was obtained before fetal karyotyping at 11 + 0 to 13 + 6 (median, 12 + 5) weeks of gestation in 100 fetuses that were subsequently found to have trisomy 21 and in 300 fetuses subsequently found to be chromosomally normal. The multiplanar mode was used to obtain a sequence of transverse views of the fetal head and to demonstrate the biparietal and suboccipitobregmatic views. We measured the biparietal diameter (BPD), the occipitofrontal diameter (OFD) and the frontothalamic distance (FTD) between the inner table of the frontal bone and the posterior thalami.

Results: In the chromosomally normal group the BPD, OFD and FTD increased linearly with crown-rump length (CRL) from 16.7 mm, 19.0 mm and 12.1 mm at a CRL of 45 mm to 26.7 mm, 31.7 mm and 18.7 mm, respectively, at a CRL of 84 mm. In the trisomy 21 fetuses, compared to normal fetuses, there was shorter BPD (mean difference = -0.63 mm; 95% CI, -0.97 to -0.30 mm, P < 0.0001), OFD (mean difference = -1.41 mm; 95% CI, -1.75 to -1.07 mm, P < 0.0001) and FTD (mean difference = -0.77 mm; 95% CI, -1.02 to -0.54 mm; P < 0.0001) and higher BPD to OFD ratio (mean difference = 0.022; 95% CI, 0.012 to 0.032, P < 0.0001) but no significant difference in the FTD to OFD ratio (mean difference = 0.004; 95% CI, -0.006 to 0.013, P = 0.448).

Conclusions: In fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation there is evidence of brachycephaIy but not of frontal lobe hypoplasia.