Labiopalatoschisi fetale unilaterale: rilevamento di anomalie enzimatiche nel liquido amniotico

The aim of this study was to evaluate if it is possible to determine, by means of isoelectric focusing, an enzymic differentiation in human amniotic fluid, and if the onset of fetal cleft lip and palate is accompanied by a pathological enzymic differentiation pattern in amniotic fluid. From January 1993 to June 1996, amniotic fluid samples were examined from 315 healthy pregnant women (age 22-43 years; mean 37 years; gestational age 14, 22 weeks; mean 17 weeks). The normality of all pregnancies was confirmed at birth. Moreover, amniotic fluid samples were examined from 3 pregnancies (age 36, 35, 30 years; gestational age 16, 18, 24 weeks) with fetal unilateral cleft lip and palate (confirmed at birth), diagnosed by ultrasound. As 'metabolic' markers, we have tested the enzimes LDH (lactate dehydrogenase) and CPK (creatine phosphokinase). A statistically significant difference (p = 0.003) was found, regarding the concentration rates of both the tested enzymes, between amniotic fluid samples obtained from normal and affected pregnancies. These data, in our opinion, corroborate the hypothesis that a local metabolic impairment is somehow involved in the pathogenesis of cleft lip and palate.