Perinatal outcomes and congenital heart defect prognosis in 53313 non-selected perinatal infants

Abstract

ObjectiveTo evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population.MethodsThe population-based surveillance data used in this assessment of CHDs were based on birth defect surveillance data collected from 2010–2012 in Liuyang City, China. Infants living with CHDs were followed up for 5 years to determine their prognosis. Prevalence, prenatal diagnosis, perinatal outcomes, and total and type-specific prognosis data were assessed using SPSS 18.0.ResultsIn total, 190 CHD cases were identified among the 53313 included perinatal infants (PIs), indicating a CHD prevalence of 35.64 per 10000 PIs in this non-selected population. The five most frequently identified types of CHDs were ventricular septal defects (VSDs, 38.95%), atrial septal defects (ASDs, 15.79%), cardiomegaly (7.89%), tetralogy of Fallot (TOF, 5.79%), and atrioventricular septal defects (AVSDs, 5.26%). Of the 190 CHD cases, 110 (57.89%) were diagnosed prenatally, 30 (15.79%) were diagnosed with associated malformations, and 69 (36.32%) resulted in termination of pregnancy (TOP). Moreover, 15 (7.89%) PIs died within 7 days after delivery, and 42 (22.10%) died within 1 year. In contrast, 79 (41.58%) were still alive after 5 years. When TOP cases were included, the 5-year survival rate of PIs with prenatally detected CHDs was lower than that of PIs with postnatally detected CHDs (25.45% vs. 63.75%). The CHD subtype associated with the highest rate of infant (less than 1 year old) mortality was transposition of the great arteries (100%). The subtypes associated with higher 5-year survival rates were patent ductus arteriosus (80%), ASD (63.33%), VSD (52.70%) and AVSD (50%).ConclusionsThe rates of prenatal CHD detection and TOP were high in this study population, and the 5-year survival rate of PIs with CHDs was low. The government should strengthen efforts to educate pediatricians regarding this issue and provide financial assistance to improve the prognosis of infants living with CHDs, especially during the first year of life.

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect

“…Congenital heart defects (CHD) are the most common birth defect, affecting around 4-8 per 1000 live births and accounting for 30-50% of infant mortalities 1,2 . CHD is believed to result from an interaction between genetic and non-genetic factors.…”

Clinical application of targeted next‐generation sequencing in fetuses with congenital heart defect

“…Congenital heart defects (CHD) are the most common forms of birth defects, with an estimated incidence of 4–8 per 1000 live births, and account for 30–50% of cases of infant mortality. It has been hypothesized that the etiology of CHD is multifactorial inheritance resulting from interaction of genetic and environmental factors.…”

Comparison of the 1-year survival rate in infants with congenital heart disease diagnosed by prenatal and postnatal ultrasound

“…Congenital heart defects are the most common type of birth defects and have been reported to occur in 4 to 8 of every 1000 live births, [ 14 – 16 ] accounting for 30% to 50% of birth defects-induced infant mortality. [ 17 , 18 ] Previous studies showed that prenatal detection of CHD may improve pregnancy outcome of fetuses with specific types of cardiac lesions.…”