Optimizing expanded carrier screening for China: Multi-center study establishes 202-gene panel with optimal cost-effectiveness in preconception and prenatal care.

ABSTRACT:

Objective

To 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.

Methods

A 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

SUBMITTER: Yang Y 

PROVIDER: S-EPMC12826498 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature