TY - JOUR
T1 - Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping
AU - Tester, David J.
AU - McCormack, Jorge
AU - Ackerman, Michael J.
PY - 2004/3/15
Y1 - 2004/3/15
N2 - 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 β-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.
AB - 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 β-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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U2 - 10.1016/j.amjcard.2003.11.061
DO - 10.1016/j.amjcard.2003.11.061
M3 - Article
C2 - 15019897
AN - SCOPUS:1542722281
SN - 0002-9149
VL - 93
SP - 788
EP - 791
JO - American Journal of Cardiology
JF - American Journal of Cardiology
IS - 6
ER -