Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for ß-thalassemia invasive prenatal diagnosis.
PLoS One
; 18(4): e0283668, 2023.
Article
in En
| MEDLINE
| ID: mdl-37014894
ABSTRACT
BACKGROUND:
The high prevalence of ß-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.METHODS:
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.RESULTS:
127 ß-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.CONCLUSION:
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 ß-thalassemia prenatal diagnosis.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beta-Thalassemia
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Asia
Language:
En
Journal:
PLoS One
Journal subject:
CIENCIA
/
MEDICINA
Year:
2023
Document type:
Article
Affiliation country:
China