Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
Bibliographic record
Abstract
OBJECTIVE: Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with trisomy 13 or 18 using 2 population-based strategies. METHODS: In the first analysis, infants who had trisomy 13 or 18 and were born during 1968-1999 were identified using the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system. Dates of death were documented using hospital records, Georgia vital records, and the National Death Index. In the second analysis, we used the Multiple-Cause Mortality Files compiled from US death certificates from 1979 through 1997. Using these 2 analyses, we examined median survival time or median age at death, survival beyond 1 year of age, and factors associated with longer survival. RESULTS: Using Metropolitan Atlanta Congenital Defects Program, we identified 70 liveborn infants with trisomy 13 and 114 liveborn infants with trisomy 18. Median survival time was 7 days (95% confidence interval [CI]: 3-15) for people with trisomy 13 and 14.5 days (95% CI: 8-28) for people with trisomy 18. For each condition, 91% of infants died within the first year. Neither race nor gender affected survival for trisomy 13, but for trisomy 18, girls and infants of races other than white seemed to survive longer. The presence of a heart defect did not seem to affect survival for either condition. Using MCMF, we identified 5515 people with trisomy 13 and 8750 people with trisomy 18 listed on their death certificates. Median ages at death for people with trisomy 13 and trisomy 18 both were 10 days; 5.6% of people with trisomy 13 and 5.6% of people with trisomy 18 died at age 1 year or greater. Race and gender seemed to affect survival in both conditions, with girls and blacks showing higher median ages at death. CONCLUSIONS: Although survival is greatly affected by trisomy 13 and trisomy 18, 5% to 10% of people with these conditions survive beyond the first year of life. These population-based data are useful to clinicians who care for patients with these trisomies or counsel families with infants or fetuses who have a diagnosis of trisomy 13 or 18.
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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 | 0.002 | 0.005 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".