Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease
Bibliographic record
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a mutation in the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11, which leads to 7-dehydrocholesterol reductase enzyme defects.This results in the building up of toxic by-products of cholesterol production in the blood and the nervous system.All this affects the growth and development of human body systems.We presented a case of a fetus of a pregnant woman with a high-risk pregnancy after IVF.The patient was referred for a fetal karyotype test, which showed a male sex (46, XY).This woman was referred to our centre for fetal heart evaluation.Based on our protocol established at the Department of Prenatal Cardiology of the Institute of the Polish Mother's Health Centre in Lodz, our examination starts with obstetrical screening, including ultrasound fetal gender evaluation.At this point of examination, the fetus presented ambiguous genitalia and fetal polydactyly.The fetal echocardiographic examination revealed atrioventricular septal defect.The presence of ambiguous genitalia and atrioventricular septal defect allowed us to suspect SLOS.As a result, further diagnostic steps were suggested, and the diagnosis was confirmed.The family chose comfort care with no postnatal intervention and planned the next pregnancy with another donor.We would like to underline the importance of a detailed ultrasound protocol before fetal echocardiographic examination for its proper interpretation.
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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 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".