[Prenatal diagnosis of Meckel-Gruber's syndrome by ultrasound (author's transl(].
The article reports on the ultrasonographic diagnosis of a Meckel-Gruber's syndrome in the 17th week of pregnancy. This malformation syndrome is characterized by the triad: encephalocele, polycystic kidneys, and polydactyly. This congenital disease is compared with malformation syndromes which are distinguishable by differential diagnosis, such as Potter's renofacial syndrome. Thorough ultrasonic examination will be able to detect the severe renal changes as well as the neural tube defects associated with Meckel-Gruber's syndrome. Further diagnostic aids for detecting neural tube defects are, in the first place, the alpha-fetoprotein values obtained from the serum of the mother and/or the amniotic fluid, as well as the determination of acetyl cholinesterase.
D000328:Adult; D004677:Encephalocele / Q000175:diagnosis*; D005260:Female; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography
Pränatale Diagnose des Meckel-Gruber-Syndroms durch Ultraschall.