P120Prenatal demonstration of polyvalvular disease in a fetus with trisomy 18

Abstract

A polyvalvular disease of cardiac valves is a common finding in early trimester fetuses with trisomy 18 at autopsy (Hyett et al. Am J Med Genet 1997; 69: 207). Prenatal diagnosis of this disease, however, is very rare.Case reportNuchal translucency screening was performed in a 26‐year‐old gravida 1 at 13 + 5 weeks. IUGR (CRL 65 mm) with nuchal translucency thickness of 3.0 mm, retrogenia and cardiomegaly (CTR > 0.5) was shown. Umbilical artery Doppler indices were normal (PI 1.44), but in the ductus venosus a reversed blood flow during atrial systole was demonstrated (PIV 4.18, PVIV 2.9). Echocardiography showed ‘doming’ of the pulmonary and aortic valves with poststenotic dilatation. Doppler echocardiography demonstrated severe stenoses of the pulmonary and aortic valves (maximal velocities: 1.8 m/s and 2.13 m/s, respectively) and holosystolic insufficiencies of tricuspid and mitral valves (maximal velocities: 2.12 m/s and 2.04 m/s, respectively). The CVS revealed trisomy 18 (47,XY, + 18). 6 days later, fetal demise was diagnosed. Abortion was induced by an intra‐amnial injection of Rivanol. Autopsy confirmed the severe stenoses of both great arteries without additional cardiac malformation.ConclusionsThe case reports the option of Doppler echocardiography in early pregnancy to diagnosed severe stenosis of the great arteries and confirmed the data of autopsy studies, that fetuses with trisomy 18 in early pregnancy have polyvalvular diseases, presumably being a lethal factor.