Stillbirth: The heart of the matter

Abstract

We evaluated 2,083 cases within the Wisconsin Stillbirth Service Program (WiSSP) that had autopsy reports or ultrasound data relevant to the heart. Of these, 167/1,782 (9.4%) stillbirths after 20 weeks and 11/301 (3.7%) miscarriages <20 weeks had congenital heart disease (CHD). Cases were classified by type of heart defect and whether it related to cause of death. Among cardiac anomalies that contributed significantly to fetal death, 125/151 (83%) were associated with underlying conditions or syndromes, nearly half of which were chromosomal. The most common forms of CHD in stillborns were severe cyanotic lesions (3%), then ventricular (2.6%) and atrial (1.9%) septal defects. Compared to livebirths, this represents a shift toward more severe cardiac lesions, although all comparable categories, including non-lethal conditions such as atrial septal defect, are more common in stillbirths. Clinical cardiomyopathy was identified as cause of death in 1.2% of stillborns. Cardiomegaly, occurring in 26.7% of all cases and 76.7% of infants born to diabetic mothers, may represent undiagnosed cardiomyopathy and/or may decrease fetal tolerance of hypoxia. In contrast, 78.5% of Turner syndrome infants, all <32 weeks, had small hearts. More attention to cardiac findings can lead to increased understanding of stillbirth causes. Based on our findings, we recommend chromosome studies on all stillbirths and close attention to the heart during second trimester ultrasounds, with chromosome studies offered if CHD is found. Consideration of heart size can result in prenatal identification of infants at risk for stillbirth, particularly large hearts in fetuses of diabetic mothers in the third trimester, which may identify fetal cardiomyopathy before it becomes life-threatening.

Trends in Congenital Heart Disease

“…Currently active databases may derive from society-sponsored clinical data registries (eg, the STS Congenital Heart Surgery Database, the American College of Cardiology's Improving Pediatric and Adult Congenital Treatment [IMPACT] Registry), administrative databases (eg, the Pediatric Health Information System), and research databases (eg, the NHLBI's PHN and Pediatric Cardiac Genomics Consortium). Data can also be derived from electronic health records, industry databases for devices, genetics research registries, and consortia of centers dedicated to missions such as quality improvement (eg, the National Pediatric CardiologyQuality Improvement Collaborative) or to specific disciplines within pediatric cardiology (PC 4 ; the Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension [TOPP-2] registry, etc). Additional efforts in linking data across institutions comes from the Cardiovascular Research Network, a consortium linking electronic health records across healthcare systems, which is working to extract data on CHD patients using natural language text processing algorithms in unstructured electronic health records.…”

“…Although there is slight variation between many population-based studies, CHD occurs in ≈1% of live births, with similar prevalence throughout world, [1][2][3] and in 10% of aborted fetuses. 4 It is also the leading cause of mortality from birth defects. 5 Approximately one-quarter of the 40 000 children born with CHD annually in the United States require intervention in the first year of life.…”

Stillborn Infants: Associated Malformations

“…The analysis of 167 stillborn infants with heart defects in the Wisconsin Stillbirth Service Program concluded that many heart defects (83%) contributed to the fetal death (Jorgensen et al, ). The most common heart defects were severe cyanotic lesions, such as hypoplastic left heart syndrome and tetralogy of Fallot with pulmonary atresia, and ventricular and atrial septal defects.…”

“…The spectrum of malformations identified in stillborn infants has been described in several systematic studies (Mueller et al, , Pauli, ; Pauli and Reiser, ; Yamauchi et al, ; Botto et al, ; Pinar et al, ; Jorgensen et al, ). Chromosome abnormalities, primarily the trisomies, have been the most common diagnoses.…”

“…The causes of stillbirth have been shown in several systematic studies to be either maternal factors or fetal factors or a combination of those factors. Two systematic studies, the Wisconsin Stillbirth Services Program from 1983 to 1988 (Pauli, ; Pauli and Reiser, ; VanderWielen et al, ; Jorgensen et al, ) and the Stillborn Collaborative Research Network from 2006 to 2008 (Dudley et al, ; Reddy et al, ; Gibbs Pickens, ; Page et al, ), have identified the many causes of stillbirth and have provided recommendations for the evaluation of the stillborn fetus, the placenta, and the potentially relevant maternal factors.…”