Prenatal ultrasound findings of lissencephaly associated with Miller–Dieker syndrome and comparison with pre‐ and postnatal magnetic resonance imaging
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
OBJECTIVE: To report on the prenatal ultrasound findings in fetuses with lissencephaly associated with Miller-Dieker syndrome (MDS) and to compare these findings with those of magnetic resonance imaging (MRI). METHODS: Cases of MDS confirmed by postnatal chromosome microdeletion analysis were identified through review of patient records. Prenatal ultrasound scans were reviewed retrospectively by two radiologists. For cerebral cortical development, the Sylvian, parieto-occipital and calcarine fissures, and the cingulate sulcus and sulci over the cerebral convexity were evaluated. If one or more of these fissures or sulci were not visualized at the expected gestational age or their appearance was abnormal for gestational age, cortical development was considered delayed. Prenatal and postnatal MRI examinations were reviewed by a pediatric neuroradiologist. RESULTS: There were seven cases of MDS. In three cases, the prenatal diagnosis of agyria/lissencephaly was prospectively suspected by ultrasound at 23, 26 and 30 weeks, and subsequently confirmed by prenatal MRI. When we retrospectively reviewed the prenatal ultrasound scans of all fetuses, all had delayed cortical development identified on ultrasound performed after 23 weeks' gestation. In all cases the Sylvian fissure was abnormal on both ultrasound and MRI. In one fetus, a normal cortical appearance for gestational age was seen at the initial 20-week ultrasound examination, but delayed cortical development was identified at a 24-week scan. Mild ventriculomegaly was seen in six fetuses and dysgenesis of the corpus callosum in one. Extracranial abnormalities were detected in five fetuses. Delayed cortical development was seen in two fetuses with mild ventriculomegaly, but no other fetal anomalies. CONCLUSIONS: In fetuses with MDS, delayed cortical development can be suspected on ultrasound as early as 23 weeks' gestation. This finding warrants further investigations including MRI and FISH analysis for chromosome 17p13.3 deletion.
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.
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 it