P2A052: Prevalence and Method of Diagnosis of Critical Congenital Heart Disease in Wisconsin Newborns Between 2014-2019

Background: The designation of Critical Congenital Heart Disease (CCHD) includes a group of congenital cardiac malformations in which timely diagnosis and treatment are critical. Understanding the prevalence and method of diagnosis helps guide clinical care as well as public policy with regard to CCHD.

Methods: As part of the Wisconsin Department of Health Services program to screen newborns for CCHD, the diagnoses and method of diagnoses was recorded for all Wisconsin-born babies who failed pulse oximetry screening due to CCHD or were seen at American Family Children’s Hospital or the Children’s Hospital of Wisconsin with a diagnosis of CCHD. Babies born in Wisconsin but transferred out of state for care might not be included, leading to a potential undercounting of total number of CCHD cases.

Results: CCHD was identified in 617 babies in the cohort of 390,117 births from 2014 to 2019. The prevalence of each of 13 CCHD diagnoses and the mechanism of diagnosis is provided in Table 1. The change in the mechanism of diagnosis over time is given in Table 2. The overall prenatal detection rate of CCHD was 62%, increasing from 51% in 2014 to a high of 73% in 2018.

The rate of prenatal detection was highest in Hypoplastic Left Heart Syndrome (95.4%), Other Single Ventricle (94.7%), Truncus Arteriosus (83.3%) and Pulmonary Atresia (81.8%) and less than 50% in Total Anomalous Pulmonary Venous Return (16.7%), Ebstein’s Anomaly (36.8%) and Coarctation (39.3%). A total of 30 patients with CCHD were first identified by pulse oximetry screening and 186 by either physical examination or symptoms prior to hospital discharge. 83/617 babies (13.4%) had a late diagnosis of CCHD (after hospital discharge or at greater than three days in the case of home birth), most commonly Coarctation (35.7%), Tricuspid Atresia (33.3%), Ebstein’s Anomaly (26.3%), Double Outlet Right Ventricle (14%), Total Anomalous Pulmonary Venous Return (13.3%) and tetralogy of Fallot (8.9%). Only 2 of the 103 babies with Hypoplastic Left Heart Syndrome or other Single Ventricle had a late diagnosis of CCHD.

Conclusion: These data give a contemporary assessment of the minimum prevalence and mechanism of diagnosis of CCHD in the State of Wisconsin in the context of good prenatal diagnosis and universal pulse oximetry screening of newborns. The risk for underdiagnosis of specific lesions during fetal evaluation should be considered when evaluating newborns for congenital heart disease.