EP14.39: Should we consider prenatal diagnosis of Silver–Russell syndrome?
Bibliographic record
Abstract
Silver–Russell syndrome is characterised by severe intrauterine growth restriction. Postnatal phenotype is highly variable, and associates poor growth, short stature, specific dysmorphism with triangular shaped face and broad forehead, body asymmetry and rarely other anomalies. Children are at significant risk for developmental delay and learning disabilities. Around 60% are due to hypomethylation of the IGF2/H19 in 11p15 and 10 % are associated with maternal uniparental disomy of chromosome 7; 30% remain unexplained. Recently, 2 women were referred to our prenatal diagnosis centre for early intrauterine growth restriction. Both women were first seen at 21 weeks of gestation with a fetal weight < 5th percentile. Abdomen circumference showed a difference of 2 weeks with the 50th percentile, femur length 1 week, while head circumference was appropriate for gestational age. Uterine arteries had normal flow patterns. Both patients underwent amniocentesis which showed normal aCGH, and congenital infection was ruled out. For both, follow-up only showed borderline amniotic fluid, and persistent stable growth restriction of the abdomen with preserved cephalic circumference. The first patient gave birth at 37 weeks to a male neonate with a weight of 2010 grams. The second patient gave birth at 38 weeks to a female neonate weighing 1710 grams. They required hospitalisation for 13 and 18 days respectively. After birth, both children presented with hypoglycemia, failure to thrive, body asymmetry, and evocative facial dysmorphism. Analyses confirmed hypomethylation of the H19 region in 11p15.5 for both. Now that Silver–Russell syndrome's phenotype and management are well described (international consensus statement published in 2017), our cases stress the importance of considering this diagnosis prenatally. This would allow appropriate counselling to parents and early postnatal specific management, including adequate nutrition and consideration for growth hormone therapy.
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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 | 0.009 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.003 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.008 | 0.006 |
| Insufficient payload (model declined to judge) | 0.005 | 0.002 |
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".