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  • Title: Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping.
    Author: Tester DJ, McCormack J, Ackerman MJ.
    Journal: Am J Cardiol; 2004 Mar 15; 93(6):788-91. PubMed ID: 15019897.
    Abstract:
    We demonstrate how genetic testing enabled a molecular prenatal diagnosis of congenital long QT syndrome in a 20-week fetus presenting with fetal bradycardia in the setting of maternal beta-blocker therapy. Before prenatal testing, strategic genotyping, based on a family history of a near drowning, was performed on a 3-generation family with clinically diagnosed long QT syndrome in which the affected mother was pregnant.
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