Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen.

ABSTRACT:

Background

Congenital heart disease (CHD) has a multifactorial pathogenesis, but a genetic contribution is indicated by heritability studies. To investigate the spectrum of CHD with a genetic pathogenesis, we conducted a forward genetic screen in inbred mice using fetal echocardiography to recover mutants with CHD. Mice are ideally suited for these studies given that they have the same four-chamber cardiac anatomy that is the substrate for CHD.

Methods and results

Ethylnitrosourea mutagenized mice were ultrasound-interrogated by fetal echocardiography using a clinical ultrasound system, and fetuses suspected to have cardiac abnormalities were further interrogated with an ultrahigh-frequency ultrasound biomicroscopy. Scanning of 46 270 fetuses revealed 1722 with cardiac anoma

SUBMITTER: Liu X 

PROVIDER: S-EPMC3962690 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature