Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.

ABSTRACT: Advances in the speed and accessibility of genomic sequencing are broadening the application of this technology to rapid, acute care diagnostics and pre-conception carrier screening. In both circumstances, genetic counselling plays a critical role in preparing couples for the strengths and limitations of the testing. For pre-conception carrier screening in particular, it is important that parents and clinicians are aware that even in the absence of an identified risk for recessive disease, a baby with a genetic condition may still be conceived. As an example, we present the genomic journey of a couple who underwent pre-conception carrier screening and following a low-risk result, delivered a baby boy who was diagnosed with Type 1 Bartter syndrome. Ultra-rapid, post-natal, trio whole genome

SUBMITTER: Forbes TA 

PROVIDER: S-EPMC9313891 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature