[Significance of prenatal diagnosis of lip-jaw-palatal clefts]

AIMS AND PATIENTS: Visualization of sonographic anatomy of the fetal face has acquired special importance, as conspicuous features in the phenotype facilitate the diagnosis of syndrome-like or chromosomally induced clinical conditions. Between 1990 and 1999, an orofacial cleft was diagnosed sonographically in 70 fetuses at the Clinic for Prenatal Diagnosis and Therapy of Bonn University Hospital. The aim of the study was to investigate whether the type of cleft correlates with the prevalence of associated anomalies or with karyotyping after amniocentesis. The types of associated anomalies and the neonatal outcome of these 70 fetuses were also reexamined.

We found a clearly positive correlation with the type of cleft, both for the associated anomalies and for the karyotype. The size of the cleft was much smaller with normal karyotypes than in the case of fetuses with trisomy 18. The trisomy 13 fetuses displayed the most pronounced clefts. None of the fetuses with an isolated lip cleft had an associated anomaly; all were born alive and could be treated surgically. In contrast, all the fetuses with a median cleft had severe associated anomalies that were incompatible with life. Associated anomalies occur more frequently with bilateral cleft lip and palate than with unilateral clefts. The fetuses with a unilateral cleft had a higher survival rate than those with a bilateral cleft. The most common associated anomaly in cleft fetuses is located in the region of the central nervous system.

Early sonographic information on cleft formation in combination with the karyotype can give rise to differentiated obstetric measures up to the point of termination of pregnancy in the event of an infaust prognosis.