Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.

Abstract excerpt

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...

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