Ontology highlight
ABSTRACT:
SUBMITTER: Gu W
PROVIDER: S-EPMC4079742 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Genetics in medicine : official journal of the American College of Medical Genetics 20140109 7
<h4>Purpose</h4>Prenatal diagnosis of fetal Mendelian disorders can benefit from noninvasive approaches using fetal cell-free DNA in maternal plasma. Detecting metabolic disorders before birth can result in immediate treatment postpartum in order to optimize outcome.<h4>Methods</h4>We developed a mathematical model and an experimental methodology to analyze the case of a fetus with a 25% risk of inheriting two known mutations in MUT that cause methylmalonic acidemia. To accomplish this, we measu ...[more]