ArticlePrenatal diagnosis2026
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions.
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
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePrenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision-making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
methodThis is a cross-sectional study of maternal and fetal outcomes among individuals with genetic conditions, who delivered between 2011 and 2024. The primary outcomes were the rates of prenatal diagnostic testing and positive neonatal findings.
resultsOf 283 cases, 25 (8.8%) individuals underwent prenatal diagnostic testing, of which 24 (96%) specifically tested for the maternal genetic condition. The maternal condition was inherited by 48% of those undergoing prenatal diagnostic testing versus 18.6% of those who underwent post-natal genetic testing. The group that underwent prenatal diagnostic testing had a smaller proportion of autosomal recessive conditions than those who did not undergo diagnostic testing (8% vs. 38%, p = 0.0028).
conclusionDespite an elevated risk of genetic condition transmission in this cohort, the rate of prenatal diagnostic testing was notably low. Prenatal diagnostic testing has significant implications for perinatal planning and long-term health of the fetus. Further studies should evaluate barriers to and attitudes toward diagnostic testing in individuals with genetic conditions.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.