Experience in prenatal diagnosis of primary hyperoxaluria type 1
Rumsby, G.
Journal of Nephrology 11(Suppl 1): 13-14
1998
ISSN/ISBN: 1121-8428 PMID: 9604802 Document Number: 484990
Prenatal diagnosis of primary hyperoxaluria type 1 (PH1) using DNA-based techniques has been performed in 22 pregnancies from 21 families to date. The outcome of these diagnoses were: 2 affected, 14 carriers and 4 normal fetuses. In 2 families, only partially informative at the time of testing, a clear diagnosis could not be made and in one of these cases the presence of disease could not be excluded. The methods, which use a combination of linked polymorphisms and detection of the two most common mutations, have a diagnostic accuracy of > 99% and can be performed in the first trimester of pregnancy.