EP09.33: Early prenatal diagnosis of Golabi syndrome
Bibliographic record
Abstract
The Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder characterised by a pre- and postnatal overgrowth. A mutation on the GPC3 gene has been found in the majority of cases described. Organomegaly, facial dysmorphism, skeletal malformations, tumor predisposition and intellectual disability have also been described. A 29-year old mother was referred to our tertiary care centre at 22 weeks for a marked polyhydramnios, bilateral fetal renal dilation and echogenic bowels in a male fetus. An ultrasound was repeated at 24 weeks revealing a fetal macrosomia (>97th percentile) with severe polyhydramnios (>97th percentile), right renal pyelectasis and right foot anomaly. After genetic counselling, the patient declined diagnostic procedure. The amniotic fluid index was monitored weekly and at 28 weeks, an amnioreduction was performed for threatened preterm labour secondary to the severe polyhydramnios. An aCGH was realised on the amniotic fluid obtained from the amnioreduction. This analysis revealed a duplication of the exon 7 in the GPC3 gene. Postnatal examination of the boy was concordant with the diagnosis of SGBS (facial dysmorphism, nephromegaly, diasthasis recti, vertebral anomalies). Functional studies are ongoing to confirm the pathological effect of this variation. A 32 weeks premature preterm rupture of membrane preceded the vaginal delivery at 33 + 1 weeks of a 2,400 g healthy baby boy. The postnatal examination of the newborn was concordant with the diagnosis of SGBS. Supporting information can be found in the online version of this abstract 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.
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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 | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.010 | 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".