Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts

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Abstract
Objectives: The aim of this study was to investigate whether there is an association between enlarged nuchal translucency (NT) and orofacial clefts.Methods: The pregnancy outcome of women who underwent an NT measurement between January 2000 and November 2008 was reviewed. All orofacial clefts detected prenatally and postnatally in karyotypically normal fetuses/infants were reviewed and a distinction was made between isolated defects and clefts as part of multiple congenital anomalies (associated).Results: The cohort included 8638 fetuses. The NT was enlarged in 746 (8.6%). The karyotype was normal in 8347 fetuses, including 513 of the fetuses with an enlarged NT. Isolated or associated cleft lip, with or without cleft palate (CL/P), or cleft palate (CP) were diagnosed in 18 chromosomally normal fetuses (an incidence of 2.2 per 1000). In eight of these cases the NT was normal (8/7834; an incidence of 1.0 per 1000) and in the remaining 10 it was enlarged (10/513; an incidence of 19.5 per 1000). CL/P and CP were isolated or associated in three and seven of the chromosomally normal fetuses with an enlarged NT, respectively. Euploid fetuses with an enlarged NT had a relative risk for any clefts of 19 and a relative risk for isolated or associated clefts of 8 and 53, respectively (P < 0.001).Conclusions: Chromosomally normal fetuses with an enlarged NT have an increased risk of orofacial clefts. CL/P and CP are, in these fetuses, mostly associated findings, frequently part of a genetic syndrome. A detailed ultrasound examination with special attention given to the orofacial area is indicated in these fetuses. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

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