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Italian Journal of Maxillofacial Surgery 2012 December;23(1-3):35-8


language: English

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

Raposio E., Belgrano V., Canini E., Santi P.

Unit of Plastic and Reconstructive Surgery, DICMI, University of Genoa, Genoa, Italy


Aim. The aims of this study were to evaluate whether it is possible to determine, by means of isoelectric focusing, an enzymatic differentiation in human amniotic fluid, and whether the onset of fetal cleft lip and palate is accompanied by an abnormal enzymatic differentiation pattern in amniotic fluid.
Methods. The amniotic fluid samples from 315 healthy pregnant women (aged 22-43 years, mean 37 years; gestational age 14 to 22 weeks, mean 17 weeks) were examined. The normality of all pregnancies was confirmed at birth. The amniotic fluid samples were examined from three pregnancies (aged 36, 35, and 30 years; gestational ages 16, 18, 24 weeks) with fetal unilateral cleft lip and palate (confirmed at birth), as diagnosed by ultrasound. Lactate dehydrogenase and creatine phosphokinase were tested as “metabolic” markers.
Results. There was a statistically significant difference (P=0.003) in the concentration rates of both enzymes between the amniotic fluid samples obtained from the normal and affected pregnancies.
Conclusion. These data, according to the authors, corroborate the hypothesis that a local metabolic impairment is somehow involved in the pathogenesis of cleft lip and palate. Currently, a generally accepted prerequisite for fetal surgery is that the condition be readily diagnosable in the uterus. The prenatal diagnosis of facial clefts relies completely on real-time ultrasonography, the accuracy for diagnosing cleft lip and palate and the incidence of false-positive diagnoses of which have been reported.

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