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OBJECTIVE To evaluate the clinical feasibility of NIPD for β-thalassaemia using circulating single molecule amplification and resequencing technology (cSMART). DESIGN Through carrier screening, 102 pregnant Chinese couples carrying pathogenic HBB gene variants were recruited to the study. Pregnancies were managed using traditional invasive prenatal diagnosis (IPD). Retrospectively, we evaluated the archived pregnancy plasma DNA by NIPD to evaluate the performance of our cSMART assay for fetal genotyping. SETTING Chinese prenatal diagnostic
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