title: Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.
abstract: Prenatal diagnosis (PD) is available to families affected with propionic acidemia (PA), however, it entails a risk of miscarriage. Fetal DNA circulating in maternal blood could allow performing a safe prenatal diagnosis of fetal mutations. Exclusion of the paternal mutation in maternal plasma may avoid conventional PD in cases of recessive disorders such us PA. In this work, we have correctly diagnosed in maternal plasma the status of a fetus at risk of PA for the paternal mutation.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain. abustamante@fjd.es
authors.forename: Ana
authors.initials: A
authors.lastname: Bustamante-Aragones
authors.forename: Celia
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez
authors.forename: Marta Rodriguez
authors.initials: MR
authors.lastname: de Alba
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
chemical_list: D043586:Methylmalonyl-CoA Decarboxylase