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Prevalence of increased nuchal translucency in fetuses with congenital cardiac disease and a normal karyotype

Published online by Cambridge University Press:  29 July 2009

Melanie Vogel
Affiliation:
Departments of Fetal and Paediatric Cardiology, Evelina Children’s Hospital, London, United Kingdom Departments of Cardiology, Children’s Hospital, and Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America
Gurleen K. Sharland
Affiliation:
Departments of Fetal and Paediatric Cardiology, Evelina Children’s Hospital, London, United Kingdom
Doff B. McElhinney
Affiliation:
Departments of Cardiology, Children’s Hospital, and Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America
Vita Zidere
Affiliation:
Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital, London, United Kingdom
John M. Simpson
Affiliation:
Departments of Fetal and Paediatric Cardiology, Evelina Children’s Hospital, London, United Kingdom
Owen I. Miller
Affiliation:
Departments of Fetal and Paediatric Cardiology, Evelina Children’s Hospital, London, United Kingdom
Lindsey D. Allan*
Affiliation:
Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital, London, United Kingdom
*
Correspondence to: Professor Lindsey Allan, Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital, Denmark Hill, London, SE5 9RS, United Kingdom. Tel: +44 (0)207 346 30 40; Fax: +44 (0)207 733 9534; E-mail: Lindsey.allan2@btinternet.com

Abstract

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 indentified 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.

Type
Original Article
Copyright
Copyright © Cambridge University Press 2009

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