Fetal cardiology

Autoimmune congenital heart block (CHB) is an immune-mediated acquired disease that is associated with the placental transference of maternal antibodies specific for Ro and La autoantigens. The disease develops in a fetal heart without anatomical abnormalities that could otherwise explain the block, and which is usually diagnosed in utero, but also at birth or within the neonatal period. Autoantibody-mediated damage of fetal conduction tissues causes inflammation and fibrosis and leads to blockage of signal conduction at the atrioventricular (AV) node...

OBJECTIVE: Array comparative genomic hybridization (aCGH) is a molecular cytogenetic technique that is able to detect the presence of copy number variants (CNVs) within the genome. The detection rate of imbalances by aCGH compared to standard karyotyping and 22q11 microdeletion analysis by fluorescence in-situ hybridization (FISH), in the setting of prenatally-diagnosed cardiac malformations, has been reported in several studies. The objective of our study was to perform a systematic literature review and meta-analysis to document the additional diagnostic gain of using aCGH in cases of congenital heart disease (CHD) diagnosed by prenatal ultrasound examination, with the aim of assisting clinicians to determine whether aCGH analysis is warranted when an ultrasonographic diagnosis of CHD is made, and to guide counseling in this setting...

OBJECTIVE: The purpose of this study was to investigate the clinical outcome of fetal pericardial effusion (PE). METHODS: This study involved a retrospective review of prenatally diagnosed PE cases. The criterion for inclusion was pericardial fluid in an area greater than 2 mm in diameter. RESULTS: A total of 276 cases of PE and 252 cases diagnosed with other anomalies were initially reviewed. PE is associated with cardiac malformation, hydrops fetalis, extracardiac abnormalities, infections, anemias, intrauterine growth restriction, and aneuploidy markers in fetuses...

BACKGROUND: Right aortic arch (RAA) is usually associated with the presence of a significant congenital heart disease, usually a conotruncal defect, which determines the postnatal outcome. In the absence of such cardiac defects, the significance of RAA has not been determined. The aims of this study were to evaluate the significance of recognizing RAA in fetuses with normal or near normal intracardiac anatomy and to determine which associations may be present. METHODS: A retrospective study was completed of all fetuses diagnosed with RAA with normal or near normal intracardiac anatomy between 1999 and 2011...

BACKGROUND: Echocardiography screening in anti-SSA antibody exposed fetuses is controversial. OBJECTIVE: The aim of this study is to evaluate utility of fetal echocardiography in anti-SSA exposure. METHODS: Echocardiograms performed over 9 years for maternal anti-SSA exposure were reviewed for atrioventricular (AV) block, cardiomyopathy, arrhythmias, effusion, valve abnormalities, or other abnormalities identified by the echocardiographer...

Although fetal echocardiography is a useful tool for earlier detection of congenital heart disease (CHD), no clear, evidence-based appropriate use criteria exist. This study aimed to determine those referral indications most predictive of CHD. A retrospective cohort study of fetal echocardiograms was conducted at a single tertiary care center. Binomial proportion tests were used to compare likelihoods of structural CHD detection based on primary indication with the general population prevalence of 0.8%. Fetal echocardiograms of 2,380 pregnancies were performed, with CHD detected in 29...

Congenital atrioventricular (AV) block is commonly associated with heterotaxy syndrome; together they have reportedly low survival rates (10-25%). However, information about perinatal outcome and predictors of non-survival after prenatal diagnosis of this association is scarce. Therefore, we studied fetuses with heterotaxy syndrome and bradycardia or AV-block diagnosed between 1995 and 2011, and analyzed pre and post-natal variables. The primary outcome was death and the secondary outcome was pacemaker placement...

Few studies have examined the role that small for gestational age (SGA) status plays in postoperative outcomes for low-birth-weight (LBW) infants with congenital heart disease (CHD). This study aimed to examine the effect of SGA status, gestational and chronologic age, and weight on differences in morbidities and mortalities during the immediate postoperative hospitalization period. The charts of infants with CHD weighing less than 2.5 kg who underwent operative repair during the neonatal period between 2004 and 2011 were reviewed...

BACKGROUND: Whether the use of selective serotonin-reuptake inhibitors (SSRIs) and other antidepressants during pregnancy is associated with an increased risk of congenital cardiac defects is uncertain. In particular, there are concerns about a possible association between paroxetine use and right ventricular outflow tract obstruction and between sertraline use and ventricular septal defects. METHODS: We performed a cohort study nested in the nationwide Medicaid Analytic eXtract for the period 2000 through 2007...

In the recent era, no congenital heart defect has undergone a more dramatic change in diagnostic approach, management, and outcomes than hypoplastic left heart syndrome (HLHS). During this time, survival to the age of 5 years (including Fontan) has ranged from 50% to 69%, but current expectations are that 70% of newborns born today with HLHS may reach adulthood. Although the 3-stage treatment approach to HLHS is now well founded, there is significant variation among centers. In this white paper, we present the current state of the art in our understanding and treatment of HLHS during the stages of care: 1) pre-Stage I: fetal and neonatal assessment and management; 2) Stage I: perioperative care, interstage monitoring, and management strategies; 3) Stage II: surgeries; 4) Stage III: Fontan surgery; and 5) long-term follow-up...