Craniofacial variability index determined by three-dimensional ultrasound in isolated vs. syndromal fetal cleft lip/palate.
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).


CONCLUSIONS
Craniofacial variability index may be a valuable tool for distinguishing between isolated and syndromal fetal cleft lip/palate.
Roelfsema
N M
NM
Department of Obstetrics and Gynecology, Erasmus MC, University Medical Centre Rotterdam, The Netherlands. NMRoelfsema@hotmail.com
Hop
W C J
WC
van Adrichem
L N A
LN
Wladimiroff
J W
JW
D000328:Adult; D000886:Anthropometry / Q000379:methods*; D002869:Chromosome Aberrations; D002971:Cleft Lip / Q000000981:diagnostic imaging / Q000196:embryology; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000196:embryology; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D003627:Data Interpretation, Statistical; D003937:Diagnosis, Differential; D005145:Face / Q000000981:diagnostic imaging* / Q000196:embryology; D005260:Female; D005865:Gestational Age; D006801:Humans; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D011264:Pregnancy Trimesters; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods*