{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:15:37Z","timestamp":1789812937842,"version":"4.0.1"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:00:00Z","timestamp":1783468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:00:00Z","timestamp":1783468800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Preimplantation genetic testing for monogenic diseases (PGT\u2010M) is a reproductive option for couples at high risk of transmitting inherited disorders. We report a ten\u2010year single\u2010centre PGT\u2010M experience in families at risk of hemophilia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A pre\u2010clinical PGT\u2010M work\u2010up was performed for couples in which the female was a carrier of hemophilia A or B, following multidisciplinary counselling. Intracytoplasmic sperm injection (ICSI) was used to generate embryos. Blastocysts on days 5\u20137 were biopsied for genetic testing and cryopreserved by vitrification. Short tandem repeat markers were used for linkage analysis, alone or in combination with the pathogenic variant using a multiplex PCR. Embryos with conclusive results were transferred one at a time.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>23 couples contacted the center seeking information on the PGT\u2010M program, of which 19 underwent multidisciplinary counselling and pre\u2010clinical PGT work\u2010up. After ICSI, 69 embryos were biopsied and genetically characterized. A conclusive diagnosis was achieved for 58 embryos (84%): 42 unaffected embryos were suitable for transfer of whom 26 were transferred, resulting in 13 pregnancies (50% implantation rate per transfer), leading to eight live births, four miscarriages and one therapeutic termination. Prenatal diagnosis, performed in three cases, confirmed PGT\u2010M results. Amplification failure occurred in nine cases, eight of which were successfully re\u2010biopsied. Allele drop\u2010out occurred in two embryos and recombination in one.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our experience shows that PGT\u2010M is a valid and reliable option for couples at risk of transmitting severe genetic diseases, enabling prevention of affected pregnancies and reducing the emotional burden linked to therapeutic abortion.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/hae.70358","type":"journal-article","created":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T07:33:23Z","timestamp":1783496003000},"page":"1239-1246","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Preimplantation Genetic Testing for Families at Risk of Haemophilia: Ten\u2010Year Single\u2010Centre Experience"],"prefix":"10.1111","volume":"32","author":[{"given":"Mimosa","family":"Mortarino","sequence":"first","affiliation":[{"name":"Angelo Bianchi Bonomi Hemophilia and Thrombosis Center Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Garagiola","sequence":"additional","affiliation":[{"name":"Angelo Bianchi Bonomi Hemophilia and Thrombosis Center Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Nicotra","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Riccaboni","sequence":"additional","affiliation":[{"name":"Infertility Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Guarneri","sequence":"additional","affiliation":[{"name":"Infertility Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgardo","family":"Somigliana","sequence":"additional","affiliation":[{"name":"Infertility Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-9864","authenticated-orcid":false,"given":"Flora","family":"Peyvandi","sequence":"additional","affiliation":[{"name":"Angelo Bianchi Bonomi Hemophilia and Thrombosis Center Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa  Milan Italy"},{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 Degli Studi 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