{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:12:03Z","timestamp":1760908323057,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2006]]},"abstract":"<i>Objectives:<\/i> We present the prenatal two-dimensional (2D-) and three-dimensional ultrasound (3D-US) diagnosis of limb reduction defects associated with homozygous \u03b1-thalassemia and a review of the literature. <i>Methods:<\/i> At 17 weeks\u2019 gestation, amniocentesis was performed for cytogenetic and molecular studies, and 2D- and 3D-US examinations were made for evaluation of the fetal malformations. <i>Results:<\/i> Amniocentesis revealed a 46,XY karyotype and molecular analysis of the amniocytes showed that the fetus was homozygous for the Southeast Asian deletion (\u2013 \u2013<sup>SEA<\/sup>\/\u2013 \u2013<sup>SEA<\/sup>). 2D-US examination revealed bilateral ventriculomegaly, brachycephaly, pleural effusion, digital deficiency and hypoplasia of the right foot, and digital deficiency of the left foot. 3D-US confirmed the distal limb reduction defects. <i>Conclusions:<\/i> When the fetus is at risk for homozygous \u03b1-thalassemia, 2D- and 3D-US examinations are useful for prenatal detection of the associated limb reduction defects. Prenatal identification of the possible association with limb reduction defects is important for parental counseling and decision-making when intrauterine fetal therapy is an option.<\/jats:p>","DOI":"10.1159\/000092468","type":"journal-article","created":{"date-parts":[[2006,6,9]],"date-time":"2006-06-09T12:19:19Z","timestamp":1149855559000},"page":"374-379","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal Two- and Three-Dimensional Ultrasound Diagnosis of Limb Reduction Defects Associated with Homozygous \u03b1-Thalassemia"],"prefix":"10.1159","volume":"21","author":[{"given":"Chih-Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tung-Yao","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Ning","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin-Yuan","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,6,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320390314"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1988.tb02469.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2F0029-7844%2894%2900334-A"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050220"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199712%2917%3A12%3C1143%3A%3AAID-PD204%3E3.0.CO%3B2-N"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C158%3A%3AAID-AJMG7%3E3.0.CO%3B2-L"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C162%3A%3AAID-AJMG8%3E3.0.CO%3B2-R"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.24.2.79"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2869%2980208-8"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320060105"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2880%2991925-X"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1994.tb03278.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1053%2Fob.1996.v175.a74502"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1469-0705.1998.12040227.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1469-0705.1998.12040235.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002%2Ftera.1420510408"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199910%2919%3A10%3C983%3A%3AAID-PD671%3E3.0.CO%3B2-N"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1097%2F00019605-200101000-00017"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.1092"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/92468","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/92468","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:04:05Z","timestamp":1745463845000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000092468"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":19,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2006,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000092468","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"type":"print","value":"1015-3837"},{"type":"electronic","value":"1421-9964"}],"subject":[],"published":{"date-parts":[[2006]]}}}