ABSTRACT
OBJECTIVE: The aim of this study was to determine the relationship between facial clefts, associated malformations and chromosomal abnormalities. STUDY DESIGN: Sonograms of 70 fetuses with cleft lip with or without cleft palate were prospectively and retrospectively evaluated in our tertiary referral center for the nature of the cleft lip or palate and for the nature of the associated anomalies. Additionally, karyotyping was performed in 63 of the 70 patients (90%). RESULTS: The frequency of additional anomalies and the mortality rate in this selected population varied with the type of cleft. None of the fetuses presenting an isolated cleft lip had additional anomalies and all survived. All fetuses presenting a median facial cleft had concurrent anomalies (particularly of the central nervous system (90%)) and a fatal outcome. Associated defects were more frequent in fetuses with bilateral clefts (72%) than in those with unilateral clefts (48%). Fetuses with a unilateral cleft lip with or without cleft palate had a better survival rate (52%) than those with a bilateral cleft lip with or without cleft palate (35%). The frequency and type of chromosomal abnormalities varied with the type of cleft. The highest rate of chromosomal abnormalities was found in fetuses with median clefts (82%). CONCLUSIONS: Although no conclusions regarding the prevalence of chromosomal or other anomalies in patients with a cleft lip with or without cleft palate in the general population could be drawn, the study revealed a strong relationship between the type of facial cleft, associated malformations, chromosomal abnormalities and fetal outcome.
