P72Prenatal assessment of the thymus in detecting fetuses with del.22q
Bibliographic record
Abstract
Background Some congenital heart defects (CHD) were found to be associated with a deletion 22q11 and grouped as catch‐22 an acronym for Cardiac anomaly, Abnormal facies, Thymus hypo‐ or aplasia, Cleft palate and Hypothyreoidism with del.22q.11. It is still discussed whether all fetal CHD or only conotruncal anomalies (CTA) should get the targeted del.22q11 evaluation. Aim of the study was to find out the importance of thymus visualization in the prenatal detection of these affected fetuses. Method During a period of 3 years only fetuses with CHD undergoing invasive procedure for determination of the karyotype and fish for del.22q11 were included in the study. Fetal thymus was visualized as the structure in front of the great vessels as seen in the three‐vessels‐trachea view. Results 95 fetuses with different CHD were evaluated including 31 with conotruncal anomalies. Seven fetuses were found to have a del.22q11 (7.3% of all CHD, 22.5% of CTA). Six of these 7 (85.7%) had no or a hypoplastic thymus. A false positive result was found in two further cases. Conclusions Fetal thymus can be assessed on prenatal ultrasound. In fetuses with CHD especially in CTA the absence or hypoplasia of the thymus can be a hint in the targeted examination for del.22q11.
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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 | 0.001 | 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 | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".