Prevalence of aneuploidy and additional anatomic abnormalities in fetuses and neonates with cleft lip with or without cleft palate: a population-based study in Utah.

OBJECTIVE: To determine the prevalence of aneuploidy and additional major anatomic abnormalities in fetuses and neonates with cleft lip with or without cleft palate. METHODS: All cases of cleft lip with or without cleft palate (cleft lip/cleft palate) occurring in Utah from 1995 through 1999 were reviewed by using the Utah Birth Defect Network population-based surveillance system. All pregnancy outcomes are included (stillborn, live born, and termination) in this analysis. RESULTS: Of 263 cases of cleft lip/cleft palate, 72 (27.4%) were unilateral cleft lip, 112 (42.6%) were unilateral cleft lip and cleft palate, 12 (4.6%) were bilateral cleft lip, and 67 (25.5%) were bilateral cleft lip and cleft palate. Fifteen (5.7%) of the 263 fetuses and neonates were aneuploid. One (1.2%) with cleft lip (unilateral and bilateral combined) was aneuploid. Five (4.5%) of the fetuses and neonates with unilateral cleft lip and cleft palate were aneuploid compared with 9 (13.4%) of fetuses and neonates with bilateral cleft lip and cleft palate. In known or presumed euploid fetuses and neonates, additional sonographically occult major anatomic abnormalities occurred in 5 (7.0%) of 71 with unilateral cleft lip, 18 (16.8%) of 107 with unilateral cleft lip and cleft palate, 1 (8.3%) of 12 with bilateral cleft lip, and 12 (20.7%) of 58 with bilateral cleft lip and cleft palate. These abnormalities primarily involved the heart and the central nervous system. CONCLUSIONS: Amniocentesis for karyotype should be offered in all cases of cleft lip/cleft palate because of the risk of aneuploidy. Patients should be counseled that sonographically occult additional anatomic abnormalities might be present with all clefts.