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 a natomic abnormalities in fetuses and neonates with cleft lip with or withou t cleft palate. Methods. All cases of cleft lip with or without cleft palat e (cleft lip/cleft palate) occurring in Utah from 1995 through 1999 were re viewed by using the Utah Birth Defect Network population-based surveillance system. All pregnancy outcomes are included (stillborn, live born, and ter mination) 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 l ip and cleft palate, 12 (4.6%) were bilateral cleft lip, and 67 (25.5%) wer e bilateral cleft lip and cleft palate. Fifteen (5.7%) of the 263 fetuses a nd neonates were aneuploid. One (1.2%) with cleft lip (unilateral and bilat eral 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 kno wn or presumed euploid fetuses and neonates, additional sonographically occ ult 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 hea rt and the central nervous system. Conclusions. Amniocentesis for karyotype should be offered in all cases of cleft lip/cleft palate because of the ri sk of aneuploidy. Patients should be counseled that sonographically occult additional anatomic abnormalities might be present with all clefts.