Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia |
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Authors: | Bustamante-Aragones Ana Pérez-Cerdá Celia Pérez Belén de Alba Marta Rodriguez Ugarte Magdalena Ramos Carmen |
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Affiliation: | Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain. abustamante@fjd.es |
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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. |
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