Reporting Criteria for Prenatally Identified Variants of Uncertain Significance Differs Among Cytogenetics Laboratories in North America
Bibliographic record
Abstract
OBJECTIVE: Current technical standards for chromosomal microarray (CMA) interpretation are not prescriptive for reporting variants of uncertain significance (VUS) identified prenatally. We sought to compare prenatal CMA reporting among cytogenetic labs and identify potential drivers of practice variation. METHODS: We conducted an electronic cross-sectional survey of cytogeneticists in the United States and Canada from July-December 2023. Participants were identified through the American Cytogenetics Forum List. RESULTS: Labs reported differences in their size threshold used when reporting CNVs lacking OMIM annotated genes as a VUS, variable use of clinical data such as ultrasound or family history when deciding to report a VUS, and differences in opinion regarding the underlying pathogenicity of certain CNVs. Many cytogeneticists reported concerns about legal liability related to prenatal CMA reporting, and many shared concerns that a patient may terminate a pregnancy based on a VUS. CONCLUSION: Reporting criteria for prenatally identified variants of uncertain significance differs among cytogenetic laboratories in North America. Many possible drivers of this practice variation were identified, including a lack of national guidelines that comprehensively address the unique considerations for prenatal CMA reporting.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.012 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| 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) | 0.000 | 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 teacher head, 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".