Objective To determine whether heart failure is the mechanism underlying th
e association between increased fetal nuchal translucency and congenital he
art defects.
Methods Retrospective analysis of the types of congenital heart defect obse
rved in fetuses with increased nuchal translucency and those with normal nu
chal scans. Retrospective quantitative analysis of cardiac size and left ve
ntricular ejection fraction in fetuses with ventricular septal defects or t
he hypoplastic left heart syndrome.
Results Eighty-three fetuses with congenital heart defects had undergone nu
chal screening of which 51 had increased nuchal translucency and 32 had nor
mal nuchal translucency. A wide variety of different congenital cardiac les
ions with different hemodynamic effects were observed in fetuses with incre
ased nuchal translucency and those with normal nuchal scans. Defects primar
ily characterized by left heart obstruction, right heart obstruction and se
ptal defects occurred in both groups. all measurements of cardiothoracic ra
tio 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 t
he association between congenital heart defects and increased nuchal transl
ucency is not supported by this study.