title: Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping.
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.
authors.affiliation: Departments of Medicine, Pediatrics, and Molecular Pharmacology, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Tester
authors.forename: Jorge
authors.initials: J
authors.lastname: McCormack
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ackerman
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D005838:Genotype; D005865:Gestational Age; D006340:Heart Rate, Fetal; D006801:Humans; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D015701:Near Drowning; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D013575:Syncope