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

Interrogating Congenital Heart Defects with Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen Liu et al: Modeling Complex Congenital Heart Disease in Mice

Cardiovascular phenotyping of fetal mice by noninvasive high-frequency ultrasound facilitates recovery of ENU-induced mutations causing congenital cardiac and extracardiac defects.

As part of a large-scale noninvasive fetal ultrasound screen to recover ethylnitrosourea (ENU)-induced mutations causing congenital heart defects in mice, we established a high-throughput ultrasound scanning strategy for interrogating fetal mice in utero utilizing three orthogonal imaging planes defined by the fetus' vertebral column and body axes, structures readily seen by ultrasound. This co...

Comparative study of pulse oximetry, physical examination and echocardiography results in the diagnosis of congenital heart defects in neonates in the first 24 hours of life

Introduction: Congenital heart disease is the most common congenital anomaly. About 50% of Neonates with congenital heart disease are asymptomatic in the first few days of life and are not diagnosed on initial examination. Pulse oximetry is a non-invasive method that can show the percentage of oxygen saturation in the blood and congenital heart disease. Methods: This was a descriptive cross-se...

Fetal Echocardiography Indications: A Single- Center Experience

Background Congenital heart disease (CHD) is the most common lethal congenital anomaly. Early diagnosis of CHD by fetal echocardiography based on maternal and fetal indications is important and lifesaving. The aim of study was to assess the referral aspects of pregnant women to pediatric cardiologist. Materials and Methods This was a retrospective cross-sectional study on 250 documents of refer...

Genome-wide identification of mouse congenital heart disease loci.

Empirical evidence supporting a genetic basis for the etiology of congenital heart disease (CHD) is limited and few disease-causing mutations have been identified. To identify novel CHD genes, we performed a forward genetic screen to identify mutant mouse lines with heritable CHD. Lines with recessive N-ethyl-N-nitrsourea-induced CHD-causing mutations were identified using a three-generation ba...