Fetal unilateral cleft lip and palate: detection of enzymic anomalies in the amniotic fluid.

Aims of this study were to evaluate whether it is possible to determine, by means of isoelectric focusing, an enzymic differentiation in human amniotic fluid, and whether the onset of fetal cleft lip and palate is accompanied by a pathologic enzymatic differentiation pattern in amniotic fluid. From January of 1993 to June of 1996, amniotic fluid samples from 315 healthy pregnant women (ages 22 to 43 years, mean 37 years; gestational age 14 to 22 weeks, mean 17 weeks) were examined. The normality of all pregnancies was confirmed at birth. Moreover, amniotic fluid samples were examined from three pregnancies (ages 36, 35, and 30 years; gestational ages 16, 18, 24 weeks) with fetal unilateral cleft lip and palate (confirmed at birth), diagnosed by ultrasound. The authors have tested as "metabolic" markers the enzymes lactate dehydrogenase and creatine phosphokinase. For the concentration rates of both the tested enzymes, a statistically significant difference (p = 0.003) was found between amniotic fluid samples obtained from normal and affected pregnancies. These data, in the authors' opinion, corroborate the hypothesis that a local metabolic impairment is somehow involved in the pathogenesis of cleft lip and palate.