Nuchal translucency and congenital heart defects: heart failure or not?

OBJECTIVE

To determine whether heart failure is the mechanism underlying the association between increased fetal nuchal translucency and congenital heart defects.

METHODS

Retrospective analysis of the types of congenital heart defect observed in fetuses with increased nuchal translucency and those with normal nuchal scans. Retrospective quantitative analysis of cardiac size and left ventricular ejection fraction in fetuses with ventricular septal defects or the hypoplastic left heart syndrome.

RESULTS

Eighty-three fetuses with congenital heart defects had undergone nuchal screening of which 51 had increased nuchal translucency and 32 had normal nuchal translucency. A wide variety of different congenital cardiac lesions with different hemodynamic effects were observed in fetuses with increased nuchal translucency and those with normal nuchal scans. Defects primarily characterized by left heart obstruction, right heart obstruction and septal defects occurred in both groups. All measurements of cardiothoracic ratio and left ventricular ejection fraction fell within the normal range and there was no significant difference between fetuses with increased nuchal translucency and those with normal nuchal scans.

CONCLUSIONS

No specific type of congenital heart lesion is associated with increased nuchal translucency. The contention that heart failure explains the association between congenital heart defects and increased nuchal translucency is not supported by this study.