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Article

Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis.

PloS one - 1 Jan 2023

Jia Wenguang, Shi Jiying, Zhu Hengying, Wu Xiaojing, Ling Yayun, Chen Ping

Abstract excerpt

BACKGROUND: The high prevalence of β-thalassemia indicates the severe medical burden in Guangxi province in China. Millions of thousands of prenatal women with healthy or thalassemia-carrying fetuses received an unnecessary prenatal diagnosis. We designed a prospective single-center proof-of-concept study to evaluate the utility of a noninvasive prenatal screening method in the stratification of beta-thalassemia...

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Identifiers

PMID: 37014894
DOI: 10.1371/journal.pone.0283668
PMCID: PMC10072416

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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