{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T18:26:58Z","timestamp":1761676018924},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,1,31]],"date-time":"2013-01-31T00:00:00Z","timestamp":1359590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>\u03b2<\/jats:italic>\u2010thalassaemia is one of the commonest autosomal recessive single\u2010gene disorders worldwide. Prenatal tests use invasive methods, posing a risk for the pregnancy itself. Development of a noninvasive prenatal diagnostic method is, therefore, of paramount importance. The aim of the present study is to identify high\u2010heterozygote informative single\u2010nucleotide polymorphisms (SNPs), suitable for the development of noninvasive prenatal diagnosis (NIPD) of <jats:italic>\u03b2<\/jats:italic>\u2010thalassaemia. SNP genotyping analysis was performed on 75 random samples from the Cypriot population for 140 SNPs across the <jats:italic>\u03b2<\/jats:italic>\u2010globin cluster. Shortlisted, highly heterozygous SNPs were then examined in 101 carrier families for their applicability in the noninvasive detection of paternally inherited alleles. Forty\u2010nine SNPs displayed more than 6% heterozygosity and were selected for NIPD analysis, revealing 72.28% of the carrier families eligible for qualitative SNP\u2010based NIPD, and 92% for quantitative detection. Moreover, inference of haplotypes showed predominant haplotypes and many subhaplotypes with sufficient prevalence for diagnostic exploitation. SNP\u2010based analyses are sensitive and specific for the detection of the paternally inherited allele in maternal plasma. This study provides proof of concept for this approach, highlighting its superiority to NIPD based on single markers and thus providing a blueprint for the general development of noninvasive prenatal diagnostic assays for <jats:italic>\u03b2<\/jats:italic>\u2010thalassaemia.<\/jats:p>","DOI":"10.1111\/ahg.12004","type":"journal-article","created":{"date-parts":[[2013,1,31]],"date-time":"2013-01-31T06:29:34Z","timestamp":1359613774000},"page":"115-124","source":"Crossref","is-referenced-by-count":15,"title":["A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of <i>\u03b2<\/i>\u2010Thalassaemia"],"prefix":"10.1111","volume":"77","author":[{"given":"Thessalia E.","family":"Papasavva","sequence":"first","affiliation":[{"name":"Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology and Genetics  Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten 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