EP09.34: Prenatal diagnosis of Prader‐Willi syndrome
Bibliographic record
Abstract
A 31 year old gravida 4 para 1 was referred to our centre at 33+3/7 weeks of gestation for severe polyhydramnios at the 3rd trimester ultrasound performed for an increased fundal height. Trisomy 21 prenatal screening was initially declined and fetal anatomy survey was normal at a Level 2 centre. Our ultrasound findings included severe polyhdramnios (AFI 34 cm) and isolated right pleural effusion. Fetal hands were closed and distal movements were reduced. Fetal growth was initially at the 20th percentile with normal Doppler studies. Fetal echocardiography was normal. TORCH screening was negative. Microarray comparative genomic hybridisation (CGH) performed on DNA extracted from cultured amniocytes revealed a 6,1 Mb deletion at 15q11.2–q13.1. Methylation studies confirmed an abnormal pattern due to the absence of paternal contribution for SNRPN. After specific genetic counselling, the couple decided to continue the pregnancy. The patient was induced at 38 weeks in the context of an asymmetrical fetal growth at the 8th percentile with normal Dopplers. The patient had a spontaneous vaginal delivery of a baby boy with a birthweight of 2720 g and a normal head circumference. The APGAR scores were 9 and 10 at 1 and 5 minutes respectively. Neonatal course included hypotonia, recurrent hypoglycemia and need for gavage feedings. Our antenatal ultrasound findings are consistent with the study of Gross et al. that recently published the frequent association of polyhydramnios, asymmetrical growth restriction and decreased fetal movements in cases of Prader-Willi. This case illustrates the potential benefit of targeted prenatal diagnosis for Prader-Willi syndrome since it allows better parental counselling and planned neonatal care. The approach to genetic testing for Prader-Willi syndrome in the particular context of late prenatal diagnosis will be discussed.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.003 |
| Insufficient payload (model declined to judge) | 0.008 | 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".