Bustamante-Aragones Ana, Pérez-Cerdá Celia, Pérez Belén, de Alba Marta Rodriguez, Ugarte Magdalena, Ramos Carmen
Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain.
Mol Genet Metab. 2008 Sep-Oct;95(1-2):101-3. doi: 10.1016/j.ymgme.2008.05.006. Epub 2008 Jul 2.
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.
患有丙酸血症（PA）的家庭可进行产前诊断（PD），然而，这存在流产风险。母血中循环的胎儿DNA可用于对胎儿突变进行安全的产前诊断。在诸如PA等隐性疾病的情况下，排除母血中的父源突变可避免传统的产前诊断。在这项研究中，我们已在母血中正确诊断出有因父源突变而患PA风险的胎儿的状况。
