Document Detail

Prevalence of increased nuchal translucency in fetuses with congenital cardiac disease and a normal karyotype.
MedLine Citation:
PMID:  19638249     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: Our aims were to estimate the prevalence of increased nuchal translucency in fetuses with a normal karyotype that were subsequently diagnosed with congenital cardiac disease on fetal echocardiography, and to assess whether there is a link between increased nuchal translucency and specific congenital cardiac malformations. METHODS: We reviewed all patients referred to King's College Hospital and the Evelina Children's Hospital in London for fetal echocardiography between January 1998 and December 2007. We investigated the proportion of chromosomally normal fetuses with congenitally malformed hearts in which nuchal thickness was increased, both overall and with specific defects. RESULTS: We identified 2133 fetuses with congenital cardiac disease by prenatal echocardiography. Of those, 707 were excluded due to abnormal karyotype, and 690 were excluded due to unknown karyotype. The remaining 736 were eligible for inclusion. Among 481 fetuses with documented congenital cardiac disease and normal chromosomes, making up 23% of the overall cohort, 224 had increased nuchal thickness defined as equal or greater than 2.5 millimetres, this being 0.47 of the inclusive cohort, with 95% confidence intervals from 0.42 to 0.51. These proportions were significantly higher than the expected proportion of the normal population, which was 0.05 (p < 0.001). The only diagnosis for which the proportion of fetuses with nuchal translucency measurement equal or greater than 2.5 millimetres was higher than the others was atrioventricular septal defect, with 0.62 of this cohort having abnormal values, with 95% confidence intervals from 0.47 to 0.77 (p = 0.038). CONCLUSION: We found that nearly half of prenatally diagnosed fetuses with congenitally malformed hearts, when examined ultrasonically in the first or early-second trimester, had increased nuchal thickness. We recommend, therefore, referral of all fetuses with increased nuchal translucency for fetal echocardiography.
Melanie Vogel; Gurleen K Sharland; Doff B McElhinney; Vita Zidere; John M Simpson; Owen I Miller; Lindsey D Allan
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Publication Detail:
Type:  Journal Article; Multicenter Study     Date:  2009-07-29
Journal Detail:
Title:  Cardiology in the young     Volume:  19     ISSN:  1467-1107     ISO Abbreviation:  Cardiol Young     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-10-14     Completed Date:  2010-02-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9200019     Medline TA:  Cardiol Young     Country:  England    
Other Details:
Languages:  eng     Pagination:  441-5     Citation Subset:  IM    
Department of Fetal and Paediatric Cardiology, Evelina Children's Hospital, London, UK.
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MeSH Terms
Fetal Diseases / ultrasonography*
Heart Diseases / congenital*,  epidemiology,  ultrasonography*
Nuchal Translucency Measurement*

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