P05.08: Antenatal diagnosis of Diamond‐Blackfan anemia
Bibliographic record
Abstract
We report a case of a 31-year-old women G2P1 refered to our high-risk centre because of her husband was known for Diamond-Blackfan anemia. He was followed and treated for this condition until this age of 14 months of age and has been in remission since. His father was also affected. He had a genetic evaluation in 2014 and no molecular diagnosis had been made. The patient's prenatal screening was normal. No prenatal diagnosis was offered because of the absence of a known mutation. The couple met hemato-oncology and started weekly middle cerebral artery (MCA) Doppler at 16 weeks. At 33 2/7 weeks, the fetus was found to have MCA peak systolic of 75 cm/s (1,61 MoM). Signs of hydrops were not reported. We performed an intrauterine transfusion the next day. The fœtus had a pre-transfusion hematocrit of 27% and 48ml of blood was transfused. All the subsequent evaluation were normal and the patient delivered a baby girl of 2600g, apgar 2-9-9 by Caesarean section because of breech presentation at 36 4/7 weeks of pregnancy. Evaluation of the newborn revealed a heterozygote mutation of the RPS19 gene consistEnt with a diagnostic of Diamond-Blackfan anemia. This mutation was also confirmed for the father. Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow causing it to malfunction and fail to produce enough red blood cells. It is a rare autosomal dominant pathology with variable penetrance that affects both genders equally. Over half of all Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial, thumb and urogenital anomalies. Few cases of in utero Diamond-Blackfan anemia have been reported. 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.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| 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".