Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

ABSTRACT:

Background

The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this information to opt for fetal genotyping in subsequent pregnancies, which could inform decisions about elective termination of pregnancy. The use of NGS diagnostic sequencing in families has not been demonstrated to yield benefit in subsequent pregnancies to reduce recurrence. Here we evaluated whether genetic diagnosis in older children in families supports reduction in recurrence of recessive neurogenetic disease.

Methods

Retrospective study involving families with a child with a recessive pediatric brain disease (rPBD) that underwent NG

SUBMITTER: Issa MY 

PROVIDER: S-EPMC7218834 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature