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

Abstract

Objective: To evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population.

Methods: The 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.

Results: In 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%).

Conclusions: The 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.

Fig 1. Spectrum of CHDs in a non-selected population of 53313 PIs.

The most severe types of CHDs were defined as those in which several types of CHDs occurred simultaneously. VSD: ventricular septal defect; ASD: atrial septal defect; TOF: tetralogy of Fallot; AVSD: atrioventricular septal defect; TGA: transposition of the great arteries; PDA: patent ductus arteriosus; PLSVC: persistent left superior vena cava; HLHS: hypoplastic left heart; ECD: endocardial cushion defect; HRHS: hypoplastic right heart; Coarc: coarctation of the aorta; VSBT: ventricular septal bulging tumor; TAPVR: total anomalous pulmonary venous return; DORV: double-outlet right ventricle; cardiomegaly: major characteristics of cardiomegaly without specific diagnosis.

Fig 2. Spectrum of associated malformations in a non-selected population of 53313 PIs.

Tri 21: trisomy 21 syndrome; SUR: single umbilical artery; Hyd/Ser: hydrothorax/seroperitoneum; DH: diaphragmatic hernia; FLV: fetal lateral ventriculomegaly; SK/CK: single kidney/compound kidney; NTD: neural tube defect; LCAL: lung cystic adenomatoid lesion; ELS: enlargement of the liver and spleen; TE: talipes equinovarus; HIS: internal heterogeneous syndrome; CDOS: congenital dysplasia of the skin; AA: accessory auricle; DE: diaphragmatic eventration; NRDS: neonatal respiratory distress syndrome.

Fig 3. Outcomes and prognosis of infants with CHDs detected either prenatally or postnatally.

*P<0.001.