PRENATAL-DIAGNOSIS OF MECKEL-GRUBERS SYNDROME BY ULTRASOUND

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  • 1 January 1981
    • journal article
    • research article
    • Vol. 185  (1) , 67-71
Abstract
Ultrasonographic diagnosis of a huamn fetus with Meckel-Gruber''s syndrome at the 17th wk of pregnancy is reported. This malformation syndrome is characterized by the trial of encephalocele, polycystic kidneys and polydactyly. This congenital disease is compared to malformation syndromes which are distinguishable by differential diagnosis, such as Potter''s renofacial syndrome. Thorough ultrasonic examination can detect the severe renal changes and the neural tube defects associated with Meckel-Gruber''s syndrome. Further diagnostic aids for detecting neural tube defects are, in the 1st place, .alpha.-fetoprotein values obtained from the serum of the mother and/or amniotic fluid and determination of acetylcholinesterase.