Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping

David J. Tester; Jorge McCormack; Michael J. Ackerman

doi:10.1016/j.amjcard.2003.11.061

Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping

David J. Tester
, Jorge McCormack
, Michael J. Ackerman

Cardiovascular Medicine

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

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 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.

Original language	English (US)
Pages (from-to)	788-791
Number of pages	4
Journal	American Journal of Cardiology
Volume	93
Issue number	6
DOIs	https://doi.org/10.1016/j.amjcard.2003.11.061
State	Published - Mar 15 2004

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

Access to Document

10.1016/j.amjcard.2003.11.061

Cite this

@article{be93485e870f4ecb98843525accd6997,

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 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.",

author = "Tester, \{David J.\} and Jorge McCormack and Ackerman, \{Michael J.\}",

year = "2004",

month = mar,

day = "15",

doi = "10.1016/j.amjcard.2003.11.061",

language = "English (US)",

volume = "93",

pages = "788--791",

journal = "American Journal of Cardiology",

issn = "0002-9149",

publisher = "Elsevier Inc.",

number = "6",

}

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.

UR - https://www.scopus.com/pages/publications/1542722281

UR - https://www.scopus.com/pages/publications/1542722281#tab=citedBy

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 -

Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this