IngentaConnect Fetal Turners syndrome

Abstract:

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. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

Keywords: cardiac defects; echocardiography; fetus; first trimester; karyotype; Turner's syndrome

Document Type: Research article

DOI: 10.1002/uog.151

Affiliations: 1: Fetal Cardiology Unit, Harris Birthright Research Centre for Fetal Medicine, King's College, London, UK

Fetal Turner's syndrome