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 sequencing resolved both parents as carriers of pathogenic variants in SLC12A1, a gene not included in the original pre-conception screening panel. This family's story highlights (i) the intricacy of gene selection for pre-conception screening panels, (ii) the benefits of high-quality pre-test genetic counselling in supporting families through adverse genomic findings and (iii) the role rapid genomics can play in resolving uncertainty for families and clinicians in circumstances where suspicion of genetic disease exists. This article is accompanied by a Patient Voice perspective written by the child's parents, placing emphasis on the essential role genetic counselling played in their journey.

The Impact of Elevated Atmospheric Carbon Dioxide Exposure on Magic Tomatoes’ Nutrition–Health Properties

“…Sodium is a major electrolyte for cell homeostasis, the transmembrane electrochemical gradient, osmotic balance, neuron and cardiomyocyte functions, as well as many cellular and extracellular processes. Therefore, sodium balance disorders, and more particularly, hyponatremia, are related to numerous pathologies such as neuronal, cardiac, arterial blood pressure, and kidney, hepatic, and endocrine diseases [ 25 , 26 , 27 ]. Similarly, zinc, an intracellular and extracellular signaling messenger, is the second-most abundant mineral in the human body.…”

Our family's journey with genomics

“…It started to become clear that his excess urinary losses were the reason for the polyhydramnios. Within 2–3 days of his birth, his medical team postulated he may have a rare genetic condition called Bartter Syndrome 1 . He was soon transferred from the Royal Women's to the Royal Children's Hospital, to be more closely managed by the renal specialists.…”

“…Within 2-3 days of his birth, his medical team postulated he may have a rare genetic condition called Bartter Syndrome. 1 He was soon transferred from the Royal Women's to the Royal Children's Hospital, to be more closely managed by the renal specialists. From here, we were introduced to the genetics team.…”