Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.
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.
Bustamante-Aragones
Ana
A
Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain. abustamante@fjd.es
Pérez-Cerdá
Celia
C
Pérez
Belén
B
de Alba
Marta Rodriguez
MR
Ugarte
Magdalena
M
Ramos
Carmen
C
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
D043586:Methylmalonyl-CoA Decarboxylase