EP11.07: Echocardiographic diagnosis of congenital heart disease (CHD): diagnostic limitations, risk factors and impact of errors
Bibliographic record
Abstract
Accurate prenatal detection of CHD is critical to counseling on parental options and anticipated outcomes. We sought to analyse the discordances between expert fetal (F) cardiac diagnosis and postnatal (PN) findings and the impact on management and outcomes. We included 1,011 live-births with echocardiographic CHD diagnoses before/after birth at our tertiary care centre from 2008-2017. Excluded were cases with minor or reversible cardiac disease. The last prenatal echocardiographic findings were compared with the PN diagnoses. Discordant F and PN echocardiograms were independently reviewed and inconsistencies classified based on clinical relevance, preventability, and contributing factors. The RACHS score was used to categorise surgical complexity. 102 live-births (10%) with overall 116 discordant diagnoses were identified. This included 19 fetuses (1.9%) with expected aortic coarctation that had no CHD after birth (false-positive). Thirteen (1.3%) had prenatally missed CHD (false-negatives: 17 diagnoses), including 5 cases with duct-dependent critical lesions. In 70 cases, cardiac lesions were added (n = 45), removed (n = 11), or changed (n = 25) after birth, with aortic arch obstruction (13/209), situs abnormalities (7/48), and total anomalous pulmonary venous drainage (10/42) as the most commonly added conditions. In 32 neonates (3.2%), the change in PN diagnosis had a negative impact on the planned treatment, leading to additional, more complex surgery. A positive impact was found in 31 cases (3.1%), requiring no or less surgery than prenatally predicted. Discordances were predominantly associated with complex or unusual forms of CHD (60/102), suboptimal F imaging, and aortic arch obstruction. Modification of fetal CHD diagnosis after birth is not uncommon and led to significant changes in postnatal care in 6.3% of our patients. Clinicians should be aware of the inherent limitations of prenatal echocardiography, including in accurately predicting the postnatal treatment and outcomes. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.006 | 0.022 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".