Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

ABSTRACT:

Background

Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaffected, and diseases are rare but have recurrence risks of 25% in the same family. Often, affected children (or fetuses) die before a genetic diagnosis can be established, post-mortem analysis and phenotypic descriptions are insufficient and DNA from affected fetuses or children is not available for later analysis. A genetic diagnosis showing biallelic causative mutations is, however, the requirement for targeted carrier testing in parents and prenatal and preimplantation genetic diagnosis in fur

SUBMITTER: Komlosi K 

PROVIDER: S-EPMC5787287 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature