Key result
A maternal KCNQ1 p.Val173Asp variant causing concealed type 1 long-QT syndrome was identified as a potential novel cause of recurrent fetal loss.
Why the study?
Recurrent pregnancy loss affects 1% to 2% of couples, and a large fraction remains idiopathic, warranting research into monogenic causes.
Population
A nonconsanguineous Estonian family with 5 live births, 3 early pregnancy losses, and 6 fetal deaths
Design
Family genetic investigation and in vitro electrophysiologic study
Authors
Loading...
May warrant LQTS genetic testing in unexplained recurrent fetal loss; leaves open confirmation of causality.
Case Report
Concealed maternal type 1 long-QT syndrome due to a KCNQ1 mutation may be a novel cause of recurrent fetal loss.
Kasak et al. (2021) conducted a case report in Recurrent pregnancy loss. KCNQ1 p.Val173Asp variant was evaluated on Genetic variants and in vitro ion channel function. A maternal KCNQ1 p.Val173Asp variant causing concealed type 1 long-QT syndrome was identified as a potential novel cause of recurrent fetal loss.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: