{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T21:12:52Z","timestamp":1760217172837},"reference-count":23,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2007,11,6]],"date-time":"2007-11-06T00:00:00Z","timestamp":1194307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2007,12,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Single nucleated red blood cells (NRBCs) isolated from maternal circulation were used for prenatal diagnosis of \u03b2\u2010thalassaemia. The study included 22 pregnant women in the first trimester, 6 carriers at risk for \u03b2\u2010thalassaemia and 16 noncarriers. Methodology involved enrichment of NRBCs by magnetic cell sorting (MACS) and microdissection of single NRBCs with a laser micromanipulation system. Single\u2010cell genotyping based on nested real\u2010time PCR for genotyping \u03b2\u2010globin gene mutations was performed followed by a multiplexed minifingerprinting to confirm the origin of the isolated cells and possible contamination. Two polymorphic markers (D13S314 and GABRB3) facilitated the identification of fetal NRBCs through comparison of allele sizes found in the respective parents. In this study, 224 single NRBCs were detached and transferred into individual PCR tubes. Allele amplification in at least one microsatellite marker was achieved in 128\/224 cells.<\/jats:p><jats:p>Minifingerprinting analysis showed that 22 cells were fetal, 26 maternal and 80 were noninformative due to ADO or homozygosity. In 6 NRBCs the \u03b2\u2010globin gene was amplified and in 2, coming from the same pregnancy, only the paternal mutation was detected. The low PCR success when genotyping isolated NRBCs was possibly due to the poor quality of fetal NRBCs and the relatively large size of the \u03b2\u2010globin gene product. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1881","type":"journal-article","created":{"date-parts":[[2007,11,6]],"date-time":"2007-11-06T14:17:19Z","timestamp":1194358639000},"page":"1228-1232","source":"Crossref","is-referenced-by-count":24,"title":["Noninvasive prenatal diagnosis of \u03b2\u2010thalassaemia using individual fetal erythroblasts isolated from maternal blood after 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