Prenatal diagnosis of Meckel syndrome.
The three main features of Meckel syndrome are encephalocele, polycystic kidneys, and polydactyly. Prenatal diagnosis of a fetus with Meckel syndrome was made in the 16th week of gestation by means of amniotic fluid alpha1 fetoprotein estimation. The indication for amniocentesis was a previous child with an occipital meningocele and polycystic kidneys. Interpretation of the alpha1-fetoprotein value (240 microgram/ml) was difficult due to fetal blood contamination. Prenatal diagnosis is indicated in any pregnancy following the birth of a child with only two major symptoms of Meckel syndrome.
D000653:Amniotic Fluid / Q000378:metabolism; D004677:Encephalocele / Q000175:diagnosis*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D007690:Polycystic Kidney Diseases / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D000509:alpha-Fetoproteins / Q000378:metabolism
D000509:alpha-Fetoproteins