title: Experience in prenatal diagnosis of primary hyperoxaluria type 1.
abstract: 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.
authors.affiliation: Department of Chemical Pathology UCL Hospitals, London, United Kingdon. g.rumsby@ucl.ac.uk
authors.forename: G
authors.initials: G
authors.lastname: Rumsby
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis