ArticlePrenatal diagnosis2026
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.
Article in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveSpinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on parental decision-making are not well characterized. This study evaluated the diagnostic utility of extended genetic testing, including exome sequencing (ES), in fetuses with prenatally diagnosed SD and its influence on clinical management.
methodsWe retrospectively analyzed 150 pregnancies with a prenatal diagnosis of SD referred to our center between July 2021 and May 2025. All cases underwent detailed phenotyping, genetic counseling, and were offered extended genetic testing, including karyotyping, chromosomal microarray (CMA), and trio-based ES.
resultsGenetic testing, including karyotyping (110/110), CMA (61, 55.5%), and ES (66, 60.0%), was performed in 110 fetuses. Genetic anomalies were detected in 19 fetuses (17.3%). ES revealed or confirmed 16 pathogenic, likely pathogenic, or uncertain variants in 14/66 (21.21%) fetuses, including one with three distinct variants. Notably, twelve of these fetuses would not have been identified without ES. Although no definitive causative molecular variants were detected, ES results influenced the parental decision to terminate the pregnancy in four cases.
conclusionES increases diagnostic yield in SD and may influence prenatal decision-making.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.