Abstract:Objective: Genetic diseases are an important cause of neonatal and childhood mortality. For couples with a history of demise of previous children, screening for carrier status can be done by exome sequencing (ES) of the parents. Our aim was to describe the clinical utility of "targeted parental ES" in such couples and to assess the utility of reanalysis of parental ES data.
Method:We analyzed previous records, including ES reports, of 52 families with demise of previous offspring with a suspected genetic disor… Show more
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