{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T03:55:34Z","timestamp":1772078134613,"version":"3.50.1"},"reference-count":22,"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> Haemophilia A and B (HA, HB) are the most frequent X-linked bleeding diseases; two-thirds of cases are severe.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We counselled 51 couples for prenatal diagnosis (PD) of haemophilia. In 7\/51 (13.7%) cases, the couple decided not to undergo PD because counselling revealed that they were carriers of a mild form of the disease, while we performed 44 PD for severe HA (36 cases) or HB (8 cases). The indication for PD was a haemophilic child (30\/44, 68.2%) or an affected family member (12\/44, 27.3%); in two cases the non-carrier mother of isolated haemophilic patients requested PD because of the risk of mosaicism.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> We completed PD in 43\/44 cases; in one case, the prenatal sample was contaminated by maternal DNA; however, molecular analysis revealed the female sex of the foetus. We performed PD for 16 of the 36 couples at risk of HA (44.4%) by analysing the intron (IVS)22 inversion; in 1\/36 cases (2.8%) the mother had the IVS1 inversion, and in 8\/36 (22.2%) the family mutation was identified by sequencing; in 11\/36 (30.6%) cases the family mutation was unknown, and PD was performed by linkage (no recombination nor uninformative cases occurred). For HB, in 6\/8 (75.0%) cases, PD was performed by DHPLC or by sequencing; in 2\/8 cases we tested intragenic markers (again with no cases of recombination or uninformative families).<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> PD in well-equipped laboratories, and multidisciplinary counselling are an aid to planning reproductive and early therapeutic strategies in families with severe haemophilia.<\/jats:p>","DOI":"10.1515\/cclm-2013-0205","type":"journal-article","created":{"date-parts":[[2013,7,15]],"date-time":"2013-07-15T20:09:25Z","timestamp":1373918965000},"page":"2233-2238","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis of haemophilia: our experience of 44 cases"],"prefix":"10.1515","volume":"51","author":[{"given":"Federica","family":"Zarrilli","sequence":"first","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Sanna","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosaria","family":"Ingino","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Santamaria","sequence":"additional","affiliation":[{"name":"Dipartimento di Farmacia, Universit\u00e0 di Napoli Federico II , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angiola","family":"Rocino","sequence":"additional","affiliation":[{"name":"Centro Emofilia e Trombosi, Ospedale S.G. Bosco , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Coppola","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Clinica e Chirurgia, Universit\u00e0 di Napoli Federico II , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Di Minno","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Clinica e Chirurgia, Universit\u00e0 di Napoli Federico II , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Castaldo","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate , Naples , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2013,7,16]]},"reference":[{"key":"2022011513065793805_j_cclm-2013-0205_ref_001","doi-asserted-by":"crossref","unstructured":"Castaldo G, D\u2019Argenio V, Nardiello P, Zarrilli F, Sanna V, Rocino A, et al. 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