ReviewFrontiers in pediatrics2026
Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases.
Review in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic diseases represent a significant healthcare challenge, characterized by their heritable nature and substantial disease burden. While non-invasive prenatal testing (NIPT) is well-established for aneuploidy, its application has rapidly expanded to monogenic conditions. However, current monogenic NIPT faces challenges including low sensitivity for maternally inherited variants, limited fetal DNA fraction, high cost, lack of standardized clinical validation, and complex ethical and counseling considerations. This review systematically summarizes the major technological approaches, current clinical applications, and core challenges of NIPT for monogenic diseases. It further discusses the underlying scientific issues and translational barriers associated with existing technical limitations, and offers perspectives on future directions. The aim is to provide a reference framework for advancing research and promoting standardized clinical implementation in this field.
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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.