Literature DB >> 10073908

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

S D Shelton1, K Paulyson, H H Kay.   

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.

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Year:  1999        PMID: 10073908     DOI: 10.1002/(sici)1097-0223(199901)19:1<54::aid-pd452>3.0.co;2-8

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  2 in total

1.  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.

Authors:  Sabine Uhrig; Dietmar Schlembach; Julie Waldispuehl-Geigl; Werner Schaffer; Jochen Geigl; Eva Klopocki; Stefan Mundlos; Michael R Speicher
Journal:  Am J Hum Genet       Date:  2007-10       Impact factor: 11.025

2.  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.

Authors:  Irene Bottillo; Marco Castori; Carmelilia De Bernardo; Romano Fabbri; Barbara Grammatico; Nicoletta Preziosi; Giovanna Sforzolini Scassellati; Evelina Silvestri; Antonella Spagnuolo; Luigi Laino; Paola Grammatico
Journal:  BMC Res Notes       Date:  2013-09-22
  2 in total

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