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Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery.

作者信息

Shelton S D, Paulyson K, Kay H H

机构信息

Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, NC 27710, USA.

出版信息

Prenat Diagn. 1999 Jan;19(1):54-7. doi: 10.1002/(sici)1097-0223(199901)19:1<54::aid-pd452>3.0.co;2-8.

DOI:10.1002/(sici)1097-0223(199901)19:1<54::aid-pd452>3.0.co;2-8
PMID:10073908
Abstract

A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. Cordocentesis offered useful information in the management of this case for both diagnosis and in deciding the route of delivery. We believe our case represents the first prenatal diagnosis of TAR syndrome in which vaginal delivery of a liveborn infant was intentionally allowed. Caesarean delivery may not be necessary for all fetuses diagnosed with TAR syndrome.

摘要

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引用本文的文献

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Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.1q21.1微缺失和RBM8A低表达等位基因复合杂合导致的血小板减少-桡骨缺失(TAR)综合征胎儿的产前诊断和尸检:病例报告
BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376.
2
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.通过产前诊断血小板减少-桡骨缺失(TAR)综合征相关的1q21.1微缺失所证明的阵列比较基因组杂交衍生信息对遗传咨询的影响。
Am J Hum Genet. 2007 Oct;81(4):866-8. doi: 10.1086/521338.