OP20.07: Alveolar capillary dysplasia ‐ Prenatal diagnosis in at risk couples using Doppler flow analysis of fetal pulmonary arteries
Bibliographic record
Abstract
Alveolar capillary dysplasia (ACD) is a lethal disorder characterized by altered development of the pulmonary vasculature leading to increased blood flow resistance. After birth, the clinical manifestations include severe hypoxemia with elevated pulmonary arterial pressure that unfortunately results in neonatal death. The disease is etiologically heterogeneous with most cases having being inherited with an autosomal recessive or dominant mode of inheritance. The gene/genes causing this disorder are not known and thus, prenatal diagnosis using DNA mutation analysis is impossible. We hypothesized that prenatal diagnosis of ACD may be possible by measuring fetal pulmonary artery blood flow indices. Three patients with a history of a previous offspring who died of ACD which was confirmed on autopsy were prospectively recruited. None of the couples had a recurrence and thus the inheritance of the disease in these cases is unknown. The Doppler indices that were measured at 31–32 weeks of gestation are: 1) PI in the first branch of right PA and its reactivity to maternal hyperoxygenation. 2) Acceleration to ejection time ratio (AT/ET) in branch PA. The values obtained were correlated to published normal values. Hyperoxygenation test was performed in the first case at 31 weeks of gestation. The second branch PA PI decreased by 40% after maternal hyperoxygenation and the AT/ET ratio of the branch PA was 0.17. The branch PA AT/ET ratio was 0.23 in the second case and 0.23 in the third case. All Doppler indices were within the normal range. All three fetuses were born alive and are well, as expected from the prenatal findings. ACD is a lethal disorder and so far, no prenatal diagnosis/prediction has been found. Pulmonary artery Doppler analysis appears to predict a normal outcome of fetuses in couples at risk for ACD. Further cases are needed to define the predictive value of this method in the prenatal diagnosis of ACD.
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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 | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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".