{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:08Z","timestamp":1790680748884,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,2,24]],"date-time":"2018-02-24T00:00:00Z","timestamp":1519430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2018,2,24]],"date-time":"2018-02-24T00:00:00Z","timestamp":1519430400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,2,24]],"date-time":"2018-02-24T00:00:00Z","timestamp":1519430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2018,6]]},"abstract":"Abstract<\/jats:title>Intracranial haemorrhage (ICH<\/jats:styled-content>) is the most dreadful complication, and the main cause of death among patients with rare bleeding disorders (RBD<\/jats:styled-content>) and prenatal diagnosis (PND<\/jats:styled-content>) is a preventative lifesaving program. A total of 39 PND<\/jats:styled-content>s were reported in the literature through a search on PubMed, EMBASE<\/jats:styled-content>, SCOPUS<\/jats:styled-content> and Web of Science databases, most often for congenital factor (F) XIII<\/jats:styled-content> and FVII<\/jats:styled-content> deficiencies and rarely in FX<\/jats:styled-content>, FV<\/jats:styled-content> deficiencies and afibrinogenemia. The main cause to request a PND<\/jats:styled-content> is ICH<\/jats:styled-content> and related morbidity and mortality. Different molecular methods including direct sequencing and linkage analysis as well as polymerase chain reaction\u2010restriction fragment length polymorphism (PCR<\/jats:styled-content>\u2010RFLP<\/jats:styled-content>) for a specific mutation are the most common used methods for PND<\/jats:styled-content>, while factor assay and combination of molecular and factor assay also were used. In this research, 7 severely affected foetuses were identified during PND<\/jats:styled-content> including 3 foetuses with FXIII<\/jats:styled-content> deficiency, 3 with FVII<\/jats:styled-content> deficiency and 1 with FX<\/jats:styled-content> deficiency. Out of these 7 cases, intrauterine ICH<\/jats:styled-content> occurred in 1 case with FXIII<\/jats:styled-content> deficiency, 1 was electively aborted and 1 case with severe FVII<\/jats:styled-content> deficiency received intrauterine factor transfusion. Postdelivery ICH<\/jats:styled-content> was reported for 1 patient with severe FVII<\/jats:styled-content> deficiency within the first month of life. All other pregnancies were uneventful.<\/jats:p>","DOI":"10.1111\/ijlh.12789","type":"journal-article","created":{"date-parts":[[2018,2,24]],"date-time":"2018-02-24T13:22:48Z","timestamp":1519478568000},"page":"241-250","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Prenatal diagnosis in rare bleeding disorders\u2014An unresolved issue?"],"prefix":"10.1111","volume":"40","author":[{"given":"S.","family":"Tabibian","sequence":"first","affiliation":[{"name":"Department of Hematology and Blood Transfusion School of Allied Medicine Iran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Shams","sequence":"additional","affiliation":[{"name":"Department of Hematology and Blood Transfusion School of Allied Medicine Iran University of Medical Sciences Tehran Iran"},{"name":"Department of Medical Laboratory Faculty of Paramedical Sciences Babol 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