ArticlePloS one2026
Optimizing expanded carrier screening for China: Multi-center study establishes 202-gene panel with optimal cost-effectiveness in preconception and prenatal care.
Article in PloS one, 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.
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.European journal of human genetics : EJHG · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate the cost-effectiveness of different expanded carrier screening (ECS) panels for couples in China during preconception and early pregnancy (≤12+6 weeks) based on a multi-center cohort study.
methodsA multicenter, population-based study was conducted across 22 prenatal diagnosis centers in China from August 2022 to June 2023, enrolling 2,996 participants. Geographical distribution and at-risk gene frequencies were analyzed, categorizing the 222-gene panel into three groups: Panel A (222 genes), Panel B (188 genes, compliant with international guidelines), and Panel C (202 genes, optimized for the Chinese population). Decision-tree models assessed cost-effectiveness in two clinical scenarios: Preconception and During Pregnancy. Additionally, two distinct outcomes were employed: payoff 1 was defined as the number of necessary medically termination, while payoff 2 was the number of newborns free of recessive monogenic disorders.
resultsAs anticipated, European screening recommendations demonstrated limited applicability to the Chinese population. Panel A incurred the highest total cost in both the Preconception (US $5,214) and During Pregnancy (US $990) models. In the Preconception model, the incremental cost-effectiveness ratio for Panel C was US $74,869 per necessary termination and US $23,999 per additional healthy newborn without genetic disorders, compared to Panel B. In the During Pregnancy model, Panel B was the most cost-effective, yielding savings of US $580 per necessary termination and US $2,052 per healthy newborn compared to Panel C.
conclusionFor Chinese couples, the 202-gene panel (Panel C) is the most cost-effective option in both preconception and prenatal settings. However, for couples prioritizing comprehensive screening over cost, the 222-gene panel (Panel A) provides greater clinical value at a higher cost.
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.