{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T08:35:38Z","timestamp":1780562138738,"version":"3.54.1"},"reference-count":23,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> We performed counselling for prenatal diagnosis (PD) of haemoglobinopathies in 372 couples. Thirty-four out of 372 (9.1%) did not undergo PD: six due to spontaneous abortion; nine because it was too difficult to make a decision if PD was positive; 18 because counselling excluded the carrier status of one or both parents; and one because parental mutations were mild.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> Eleven out of 338 (3.3%) couples underwent PD because they had a thalassaemic child; 106 (31.4%) were found to be at high risk during pre-conceptional screening; 221 (65.4%) because of familiarity. Of 523 PDs in 486 (92.9%), including six dichorionic twin pregnancies, PD was performed on DNA from chorionic villi (CV), and in 37 from amniocytes (7.1%). In 1\/523 cases, PD was not completed because DNA from CV was not sufficient; in two cases single tandem repeat analysis revealed maternal contamination of foetal DNA; in 7\/522 (1.3%) cases PD revealed non-paternity. In 435\/522 (83.3%) cases, PD was performed using reverse dot-blot and ARMS; 34\/522 (6.5%) required sequencing. In 53\/522 (10.2%) cases it was necessary to test <jats:italic>globin<\/jats:italic> loci for large rearrangements.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> One hundred and twenty out of 522 (23.0%) PDs revealed an affected foetus. In all but two cases the couple interrupted pregnancy. In the six twin pregnancies PD revealed a normal and a carrier foetus (two cases), carrier status in both foetuses (two cases) and a carrier and an affected foetus (two cases). In these latter cases the couple planned selective interruption.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> Our PD procedure is successful and reliable, and is useful in high-risk areas characterised by molecular heterogeneity.<\/jats:p>","DOI":"10.1515\/cclm-2013-0195","type":"journal-article","created":{"date-parts":[[2013,4,15]],"date-time":"2013-04-15T14:50:55Z","timestamp":1366037455000},"page":"2219-2225","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of haemoglobinopathies: our experience of 523 cases"],"prefix":"10.1515","volume":"51","author":[{"given":"Michela","family":"Grosso","sequence":"first","affiliation":[{"name":"CEINGE-Advanced Biotechnology , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Puzone","sequence":"additional","affiliation":[{"name":"CEINGE-Advanced Biotechnology , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosaria","family":"Storino","sequence":"additional","affiliation":[{"name":"CEINGE-Advanced Biotechnology , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Sessa","sequence":"additional","affiliation":[{"name":"CEINGE-Advanced Biotechnology , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Izzo","sequence":"additional","affiliation":[{"name":"CEINGE-Advanced Biotechnology , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2013,4,9]]},"reference":[{"key":"2022011513074228652_j_cclm-2013-0195_ref_001","unstructured":"Weatherall DJ, Clegg JB, editors. 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