title: Fetal diagnosis of cleft lip: natural history and outcomes.
abstract: 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.
authors.affiliation: Section of Plastic Surgery, Department of Surgery, Yale University School of Medicine, New Haven, Connecticut, USA.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Liu
authors.forename: Renato da Silva
authors.initials: Rda S
authors.lastname: Freitas
authors.forename: Urania
authors.initials: U
authors.lastname: Magriples
authors.forename: John A
authors.initials: JA
authors.lastname: Persing
authors.forename: Joseph H
authors.initials: JH
authors.lastname: Shin
mesh_terms: D000025:Abortion, Eugenic; D002971:Cleft Lip / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011256:Pregnancy Outcome; D011379:Prognosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal