Research on the screening efficiency of Thalassemia based on an automated evaluation software.
10.3760/cma.j.cn511374-20251208-00709
- Author:
Jun HU
1
;
Huan LIANG
;
Limei DUAN
;
Jianqiang GAO
Author Information
1. Prenatal Diagnosis Center, Leshan Maternal and Child Health Care Hospital, Leshan, Sichuan 614000, China. 401925850@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Thalassemia/diagnosis*;
Software;
Female;
Genetic Testing/methods*;
Male;
Mutation;
Adult;
Genotype;
ROC Curve;
Risk Assessment
- From:
Chinese Journal of Medical Genetics
2026;43(4):281-287
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening.
METHODS:A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005).
RESULTS:The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%.
CONCLUSION:The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
