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[Prenatal diagnosis of Meckel's syndrome in a family]
Abstract:
Meckel's syndrome, with the major characteristic features of encephalocele, polydactylia and cystic kidneys, can be diagnosed via sonography. Both serum and amniotic fluid show increased alpha-foetoprotein levels. Acetylcholine esterase electrophoresis shows a pathological band on examination of the amniotic fluid. Heredity is autosomal recessive. The children are not viable. Genetic consultation of the parents is recommended.