Impact of prenatal diagnosis on survival of newborns with four congenital heart defects: a prospective, population-based cohort study in France (the EPICARD Study)

Abstract

Objectives(1) Assess the population-level probability of prenatal diagnosis and termination of pregnancy for fetal anomaly for four major congenital heart defects; (2) Examine, using population-based data, the relation between timing of (prenatal vs postnatal) diagnosis and risk of infant (ie, < 1 year) mortality for four major congenital heart defects (CHDs).DesignPopulation-based cohort (the EPIdémiologie des CARDiopathies congénitales) study.SettingGreater Paris area (Paris and its surrounding suburbs).PatientsThree hundred and fifty-four cases of four major CHDs, including functionally univentricular heart (FUH, N=132), d-transposition of great arteries (d-TGA, N=85), tetralogy of Fallot (TOF, N=60) and coarctation of aorta (CoA, N=77). Statistical analysis included the Mantel-Haenszel method and a test of homogeneity of risk ratios.ResultsApproximately 95% of FUH, more than two-thirds of d-TGA and TOF, and 40% of CoA were prenatally diagnosed. Overall, we did not find any statistically significant association between timing of (prenatal vs postnatal) diagnosis of CHD and risk of infant mortality (Mantel-Haenszel risk ratio 1.1, 95% CI 0.5 – 2.7); and the differences between the risk ratios of the association between prenatal diagnosis and infant mortality across the four CHDs was not statistically significant.ConclusionThese results imply that at least in the settings where specialised services are readily available, survival may no longer be the most relevant outcome, or the best criterion, for evaluating the impact of prenatal diagnosis on the outcome of CHD. The beneficial effects of prenatal diagnosis may be better sought by looking at more ’subtle' or long-term neurodevelopmental outcomes.

Prenatal detection of critical cardiac outflow tract anomalies remains suboptimal despite revised obstetrical imaging guidelines

“…Despite increased awareness and education, prenatal detection of various forms of CHD remains low, with outflow tract anomalies historically lower than for other types of critical CHD (such as single ventricle lesions) . Contemporary studies have shown a wide range of prenatal diagnosis rates for conotruncal anomalies (Table ) . Many outflow tract anomalies can appear normal when visualizing only the four‐chamber view (Figure A).…”

“…20 Contemporary studies have shown a wide range of prenatal diagnosis rates for conotruncal anomalies ( Table 5). [21][22][23][24][25][26][27][28] Many outflow tract anomalies can appear normal when visualizing only the four-chamber view ( Figure 1A). The ability of obstetric anatomic ultrasound to identify outflow tract anomalies increases substantially when ventricular outflow tract imaging supplements the more traditional four-chamber view.…”

Aortic Coarctation: A Comprehensive Analysis of Shape, Size, and Contractility of the Fetal Heart

“…Coarctation of the aorta (CoA) remains a challenging diagnosis to make before birth [1][2][3][4][5]. Unlike other cardiac malformations in which abnormal anatomy may be DeVore/Jone/Satou/Sklansky/Cuneo Fetal Diagn Ther 2020;47:429-439 430 DOI: 10.1159/000500022 present as early as the 1st trimester (e.g., mitral atresia, truncus arteriosus, aortic and pulmonary atresia, transposition of the great arteries, and tetralogy of Fallot), CoA often presents in the 2nd and 3rd trimesters of pregnancy and manifests as ventricular size disproportion (right ventricle [RV] > left ventricle [LV]) [3][4][5][6]. However, the false-positive rate for detecting fetuses with CoA has been as high as 65% [7].…”

Development, effectiveness, and current possibilities in prenatal detection of congenital heart defects

“…Current studies have provided different results on the benefi cial effects of fetal diagnostics on morbidity and mortality in newborns and children. 4,[42][43][44] The authors of this work consider the prenatal care system to be very effective in the Czech Republic. It is essential to have complete information on pathological pregnancies to provide the affected family with proper counseling and fetal transport "in utero" for delivery to an adequate workplace.…”