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...

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Bibliographic Details
Published in:Human genetics 1978-01, Vol.43 (3), p.333-336
Main Authors: Leschot, N J, de Nef, J J, Becker-Bloemkolk, M J, Verjaal, M, Wiesenhaan, P F
Format: Article
Language:English
Subjects:
alpha-Fetoproteins - metabolism
Amniotic Fluid - metabolism
Encephalocele - diagnosis
Female
Fingers - abnormalities
Humans
Male
Polycystic Kidney Diseases - diagnosis
Pregnancy
Prenatal Diagnosis
Syndrome
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00278842