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Article

Application of an optimized non-invasive prenatal testing for thalassemia based on change of haplotype doses.

Journal of genetics and genomics = Yi chuan xue bao - 1 Mar 2026

Sun Fei, Zhou Yao, Zhao Xing, Jie Qiuling, Ma Linna, Lin Dan, Li Yaxuan, Mai Yangqing, Gao Ge, Zhang Yongfang, Li Qi, Ma Yanlin

Abstract excerpt

Patients affected by monogenic diseases impose a substantial burden on both themselves and their families. The primary preventive measure, i.e., invasive prenatal diagnosis, carries a risk of miscarriage and cannot be performed early in pregnancy. Hence, there is a need for non-invasive prenatal testing (NIPT) for monogenic diseases. By utilizing enriched cell-free fetal DNA (cffDNA) from maternal plasma, we...

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Cell-Free Nucleic Acids
Fetus
Genetic Testing
Genotype
Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

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PMID: 41016506
DOI: 10.1016/j.jgg.2025.09.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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