Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

Purpose: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.Methods:We developed a mathematical model and an experimental methodology to analyze the case of a… CONTINUE READING

2 Figures & Tables