Document Detail

Turner's syndrome in fetal life.
MedLine Citation:
PMID:  12942498     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To compare the incidence and type of heart disease found in association with 45X karyotype in fetal life with postnatal life and to examine the outcome after fetal diagnosis. METHODS: Fifty-three fetuses with a 45X karyotype were examined echocardiographically over a 4-year period between 1999 and 2002. Of these, 47 were referred because of increased nuchal translucency (NT). RESULTS: A cardiac abnormality was detected in 33/53 (62.2%) fetuses. The most common diagnosis was coarctation of the aorta in 24/53 (45.3%) fetuses, followed by the hypoplastic left heart syndrome (HLHS) in 7/53 (13.2%) fetuses. The mean NT was significantly higher in fetuses with a heart defect than in those with normal echocardiography. Termination of pregnancy was carried out in 45/53 (84.9%) fetuses and intrauterine death occurred in six cases. Two of four fetuses with a mosaic karyotype are currently alive. CONCLUSION: Turner's syndrome is associated with a higher incidence of heart defects detected prenatally when compared to postnatal reports. The commonest associated heart defects detected prenatally are HLHS and coarctation of the aorta, in contrast to postnatal life where a bicuspid aortic valve is the most common diagnosis. The typical intrauterine presentation of Turner's syndrome with a markedly increased NT or with hydrops and with a typical 45X karyotype has an extremely poor prognosis for intrauterine survival.
E Surerus; I C Huggon; L D Allan
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  22     ISSN:  0960-7692     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2003 Sep 
Date Detail:
Created Date:  2003-08-27     Completed Date:  2003-10-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  264-7     Citation Subset:  IM    
Copyright Information:
Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.
Fetal Cardiology Unit, Harris Birthright Research Centre for Fetal Medicine, King's College, London, UK.
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MeSH Terms
Aortic Coarctation / pathology,  ultrasonography
Gestational Age
Heart Defects, Congenital / pathology,  ultrasonography*
Hypoplastic Left Heart Syndrome / pathology,  ultrasonography
Mosaicism / pathology
Pregnancy Outcome
Retrospective Studies
Turner Syndrome / embryology*,  pathology,  ultrasonography
Ultrasonography, Prenatal / methods

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