Management of cleft lip and/or palate diagnosed in utero

Objective: To assess the usefulness of fetal karyotyping in the management of facial cleft lip with or without cleft palate diagnosed during pregnancy and to determine which etiologic and prognosis criteria are helpful to consider for prenatal counselling.

Methods: Retrospective study on 35 cases of facial cleft lip and/or palate prenatally diagnosed by ultrasound examination and managed in our fetal medicine unit from 1 January 1989 to 31 December 1996. Complete follow-up was obtained for all fetuses.

Results: In our series, the mean gestational age at diagnosis was 25 weeks. In 43% of the cases, additional sonographic anomalies were also recognized. These associated anomalies were more frequent when amniotic fluid quantity was abnormal. Fetal chromosomal determination was conducted in 2/3 of fetuses and numeric or structural abnormalities were found in 20% not related to the cleft size or type (lip and/or palate). All fetuses with isolated facial cleft were chromosomally normal. We report 4 midline clefts, all of them were associated with additional sonographic findings and 3 were part of an holoprosencephaly.

Conclusions: Prenatal diagnosis of cleft lip and/or palate must draw attention to associated sonographic anomalies especially when amniotic fluid quantity is abnormal. Chromosomal karyotyping is not necessary when facial clefting is isolated except in cases diagnosed early in pregnancy. Midline clefts must draw attention on cerebral midline integrity.