Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.

ABSTRACT:

Aims

An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic testing for a fetus at risk of inheriting a paternal KCNJ11 p.R201C mutation causing permanent neonatal diabetes.

Methods

A droplet digital polymerase chain reaction assay was used to detect the presence of the mutation in cell-free circulating DNA (cfDNA) extracted from maternal plasma at 12 and 16 weeks' gestation.

Results

The mutation was not detected in the cfDNA samples, sugg

SUBMITTER: De Franco E 

PROVIDER: S-EPMC5096683 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature