Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for [beta]-thalassemia invasive prenatal diagnosis

The high prevalence of [beta]-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...

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Veröffentlicht in:PloS one 2023-04, Vol.18 (4), p.e0283668
Hauptverfasser: Jia, Wenguang, Shi, Jiying, Zhu, Hengying, Wu, Xiaojing, Ling, Yayun, Chen, Ping
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Shi, Jiying
Zhu, Hengying
Wu, Xiaojing
Ling, Yayun
Chen, Ping
description The high prevalence of [beta]-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 patients before invasive procedures. Next-generation and optimized pseudo-tetraploid genotyping-based methods were utilized in preceding invasive diagnosis stratification to predict the mater-fetus genotype combinations in cell-free DNA, which is from maternal peripheral blood. Populational linkage disequilibrium information with additional neighboring loci to infer the possible fetal genotype. The concordance of the pseudo-tetraploid genotyping with the gold standard invasive molecular diagnosis was used to evaluate the effectiveness of this method. 127 [beta]-thalassemia carrier parents were consecutively recruited. The total genotype concordance rate is 95.71%. The Kappa value was 0.8248 for genotype combinations and 0.9118 for individual alleles. This study offers a new approach to picking out the health or carrier fetus before invasive procedures. It provides valuable novel insight into patient stratification management on [beta]-thalassemia prenatal diagnosis.
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subjects Analysis
Care and treatment
Diagnosis
DNA sequencing
Nucleotide sequencing
Thalassemia
title Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for [beta]-thalassemia invasive prenatal diagnosis
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