Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.

ABSTRACT:

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 fetus with a 25% risk of inheriting two known mutations in MUT that cause methylmalonic acidemia. To accomplish this, we measured allelic counts at the mutation sites and the fetal fraction from high minor-allele-frequency single-nucleotide polymorphism positions.

Results

By counting linked alleles, the test was able to distinguish 11 positive markers from the negative controls and thereby determine whether or not t

SUBMITTER: Gu W 

PROVIDER: S-EPMC4079742 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature