[Assessment of undiagnosed critical congenital heart disease before discharge from the maternity hospital]

Abstract

Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery. Result: A total of 1 036 infants with CCHD were included. The prenatal detection rate of CCHD was 14.04%(122/869). As a whole, 52.51% (544/1 036) of CCHD cases were undiagnosed at discharge, and 14.09%(146/1 036)were still missed after 6-week examination. The diagnoses most likely to be unrecognized at discharge included critical coarctation of the aorta (COA) (75.00%), total anomalous pulmonary venous connection (61.54%), pulmonary atresia (PA) with ventricle septal defect (VSD) (61.45%), single ventricle (SV) (60.10%) and critical aortic stenosis (52.94%). Among newborns diagnosed prior to discharge, 54.88% (270/492) due to symptom or prenatal ultrasonographic diagnosis, 45.12% (222/492) due to abnormal findings in routine examination. Among asymptomatic CCHD cases without prenatal diagnosis, 71.02% (544/766) were undiagnosed and the most common delayed diagnosis was SV (82.78%), interrupted aortic arch (81.82%), transposition of the great arteries with intact ventricular septum (79.63%), PA/VSD (79.07%), and critical COA (78.57%). Newborns with DDC were more likely to develop symptoms within the first few days after birth, in comparison with non-DDC cases. However, their detection rates were close to each other. Conclusion: The rate of misdiagnosis of CCHD before discharge from maternity hospitals is high in China, indicates the importance of implementation of CCHD screening in Chinese maternity hospitals, so as to give timely diagnosis and proper treatment.

Keywords: Heart defects, congenital; Infant, newborn; Neonatal screening.