{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,13]],"date-time":"2025-04-13T18:23:08Z","timestamp":1744568588448},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6670,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have examined reproduction patterns in hemophilic men and carrier women seen at a hemophilia treatment center. The study group included 309 patients with hemophilia A or B: 194 adults and 115 children from 246 pedigrees; 93% of affected men and 96% of parents of affected children had received genetic counseling. In the collected pedigrees, 65 % of affected males were born to women with family history of hemophilia. An additional 23% of mothers were later shown to be carriers. Fewer than 12% of cases could be due to a new mutation in the child. Among 209 hemophilia A carrier tests, 95% of obligate carriers were detectable, 87% of mothers of sporadic cases, 53% of sisters of hemophiliacs, and 24% of other relatives had a high risk of carriership. Of 49 high\u2010risk women seen during or prior to pregnancy, one\u2010half elected prenatal diagnosis. Amniocen\u2010tesis was performed in 24 cases and 8 were referred for fetoscopy, resulting in 18, normal offspring. Among 25 pregnancies not tested, 14 continued and produced 3 affected males and 11 normal offspring. Of hemophilic men over age 25, 66% have married and 41% (62% of those married) have had children. These obser\u2010vations will serve as a baseline for assessing any change in reproductive patterns occurring with the introduction of new genetic techniques.<\/jats:p>","DOI":"10.1002\/ajmg.1320260313","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:46:04Z","timestamp":1118544364000},"page":"591-598","source":"Crossref","is-referenced-by-count":18,"title":["Reproductive choices in hemophilic men and carriers"],"prefix":"10.1002","volume":"26","author":[{"given":"Connie H.","family":"Miller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret W.","family":"Hilgartner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis M.","family":"Aledort","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/21548331.1982.11702390"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.1.26"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)92856-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197904263001701"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"3192","DOI":"10.1001\/jama.1983.03340230044025","article-title":"Reproduction in hemophilia","volume":"250","author":"Francis RB","year":"1983","journal-title":"JAMA"},{"key":"e_1_2_1_7_1","first-page":"1092","article-title":"Antenatal diagnosis and carrier 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