[Problems posed by the diagnosis and prenatal management of facial clefts]

To identify the difficulties in relation to prenatal diagnosis of cleft lip and/or palate. To provide useful clue to the clinician in order to evaluate prognosis and for prenatal management of this malformation.

Retrospective study of all cases managed in our fetal medicine unit between January 1991 and December 1999. During this study period 64 cases of fetal cleft lip and/or palate were retrospectively reviewed. From June 1995, all cases were prospectively recorded, giving us the opportunity to compare the performance of three ultrasound signs for associated secondary cleft palate.

The mean gestational age at diagnosis was 26 weeks. Associated ultrasound abnormalities were detected in 42% of cases. Chromosome analysis was performed in all fetuses with associated ultrasound findings and in 39% of fetuses with isolated facial clefts. All fetuses with isolated cleft were chromosomally normal, whereas 15 of the 26 with additional abnormalities had chromosomal defects. Prospective assessment of three ultrasound signs of associated secondary cleft palate was considered possible in 57% of facial clefts. Sensitivity of these signs was respectively 78% (interruption of the secondary palate midline linear echo in a sagittal view), 87% (abnormal oro-nasopharyngeal fluid flow with color Doppler imaging) and 31% for ancillary signs (amniotic fluid excess and non-visualized fetal stomach) for the prediction of associated cleft palate. Only the absence of the three signs to rule out secondary cleft palate.

Prenatal diagnosis of cleft lip and/or palate must draw attention to associated sonographic malformations. When cleft lip and/or palate is isolated, amniocentesis is recommended apart from selected cases. Secondary palate involvement is difficult to ascertain during pregnancy.