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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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Chinese prenatal diagnostic centres specialising in thalassaemia testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Population<\/jats:title><jats:p>Chinese carrier couples at high genetic risk for \u03b2\u2010thalassaemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fetal cell sampling was performed by amniocentesis and <jats:italic>HBB<\/jats:italic> genotypes were determined by reverse dot blot. NIPD was performed by a newly designed <jats:italic>HBB<\/jats:italic> cSMART assay and fetal genotypes were called by measuring the allelic ratios in the maternal cell\u2010free DNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main outcome measures<\/jats:title><jats:p>Concordance of <jats:italic>HBB<\/jats:italic> fetal genotyping between IPD and NIPD and the sensitivity and specificity of NIPD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Invasive prenatal diagnosis identified 29 affected homozygotes or compound heterozygotes, 54 heterozygotes and 19 normal homozygotes. Compared with IPD results, 99 of 102 fetuses (97%) were correctly genotyped by our NIPD assay. Two of three discordant samples were false positives and the other sample involved an incorrect call of a heterozygote carrier as a homozygote normal. Overall, the sensitivity and specificity of our NIPD assay was 100% (95% CI 88.06\u2013100.00%) and 97.26% (95% CI 90.45\u201399.67%), respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study demonstrates that our cSMART\u2010based NIPD assay for \u03b2\u2010thalassaemia has potential clinical utility as an alternative to IPD for pregnant <jats:italic>HBB<\/jats:italic> carrier couples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Tweetable abstract<\/jats:title><jats:p>A new noninvasive test for pregnancies at risk for \u03b2\u2010thalassaemia.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1471-0528.16295","type":"journal-article","created":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T07:15:16Z","timestamp":1588576516000},"page":"448-457","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Noninvasive prenatal diagnosis for pregnancies at risk for \u03b2\u2010thalassaemia: a retrospective study"],"prefix":"10.1111","volume":"128","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1598-0382","authenticated-orcid":false,"given":"W","family":"Lv","sequence":"first","affiliation":[{"name":"Centre for Medical Genetics &amp; 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