Experience in prenatal diagnosis of primary hyperoxaluria type 1

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.