Objective: This study was undertaken to employ craniofacial pattern profile analysis in fetal facial clefts and to evaluate the craniofacial variability index (CVI) in distinguishing between isolated and syndromal clefts. Methods: Three-dimensional (3D) sonographic assessment of 16 different fetal craniofacial measurements was performed in each of eight pregnancies complicated by an isolated facial cleft and seven pregnancies with a syndromal cleft. The measurements covered various aspects of facial width, depth and height. Measured values were compared to gestational age-specific normal values for calculation of Z-scores and the CVI. The number of abnormal Z-scores, i.e. < -2 or > +2, found among the measured values and the CVI in the group of isolated facial clefts were compared to those in the group with syndromal clefts. Results: The CVI could be calculated in 14 of 15 fetuses (93%). More abnormal Z-scores and a higher mean CVI were found in the group with more severe (bilateral) facial clefts. Most abnormal values were found in the facial width measurements. Syndromal cleft lip/palate was associated with significantly more abnormal Z-scores and a higher mean CVI than isolated cleft lip/palate (P < 0.05). Conclusion: Craniofacial variability index may be a valuable tool for distinguishing between isolated and syndromal fetal cleft lip/palate. Copyright

Craniofacial variability index, Fetal cleft lip/palate, Fetus, Syndrome delineation, Three-dimensional ultrasound
dx.doi.org/10.1002/uog.3921, hdl.handle.net/1765/36497
Ultrasound in Obstetrics and Gynecology
Erasmus MC: University Medical Center Rotterdam

Roelfsema, N.M, Hop, W.C.J, van Adrichem, L.N.A, & Wladimiroff, J.W. (2007). Craniofacial variability index determined by three-dimensional ultrasound in isolated vs. syndromal fetal cleft lip/palate. Ultrasound in Obstetrics and Gynecology, 29(3), 265–270. doi:10.1002/uog.3921