Genetic counselling and prenatal diagnosis of cystic fibrosis in Debrecen (Hungary)--prenatal diagnosis by microvillar enzyme assay from amniotic fluid.
Amniotic fluid intestinal alkaline phosphatase, gammaglutamyltransferase and trehalase activity were quantitated to assess their reliability for the prenatal diagnosis of cystic fibrosis. To obtain optimal diagnostic discrimination, the three enzyme values obtained for each sample were combined into a single linear discriminant function that proved to be a more accurate indicator of the outcome of the pregnancy. From the cases studied here, it appears that this method can be expected to give a correct prediction in 92.0% of all high risk pregnancies.
Szabó
M
M
Department of Obstetrics and Gynaecology, University Medical School of Debrecen, Hungary.
Teichmann
F
F
Huszka
M
M
Münnich
A
A
Veress
L
L
Papp
Z
Z
D000653:Amniotic Fluid / Q000201:enzymology; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008871:Microvilli / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis
D015342:DNA Probes