Fetal diagnosis of cleft lip: natural history and outcomes

Previous studies have suggested that most fetuses diagnosed prenatally with cleft lip have multiple associated anomalies, that fetuses with isolated cleft lip/palate are uncommon, and that their ultimate outcome is poor (Lopoo, 1999). However, our clinical experience failed to make a similar connection. The purpose of this study was to examine the natural history and current outcomes of fetuses diagnosed with cleft lip. A retrospective study was performed on all patients undergoing fetal ultrasonography over a 7-year period (1993-2001) in a tertiary referral center. All patients who had a fetal diagnosis of cleft lip were reviewed (N = 57). Fifty-seven fetuses with cleft lip were identified. Forty-three of 57 patients have complete records. Of these, 18 patients (43%) had terminations for associated severe malformations. Three fetuses (7%) had intrauterine or neonatal demise. The remainder, 22 fetuses (53%) survived to term. Of this group, 18 (82%) of 22 infants were diagnosed postnatally with isolated cleft lip/palate and no associated anomalies. Only 4 of 22 had associated anomalies. All recorded terminations were performed with known karyotyping. We demonstrate that a significant percentage of fetuses diagnosed ultrasonographically with cleft lip/palate in our study were isolated and that this subset of patients has an excellent prognosis and outcome. This may provide further or alter implications for genetic counseling and management.