[Prenatal diagnosis of Meckel's syndrome in a family].
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.
D004677:Encephalocele / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014463:Ultrasonography
Pränatale Diagnostik eines Meckel-Syndroms bei einer vorbelasteten Familie.