CONGENITAL HEART DISEASE Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11–14 weeks of gestation

Objective: To analyse patient data to elucidate the apparent association between an abnormal karyo-type and tricuspid regurgitation found during fetal echocardiography at early gestations. Setting: Tertiary referral centre for fetal medicine and cardiology. Methods: Fetuses between 11 and 14 weeks ’ gestation were selected for detailed echocardiography. Referral reasons were increased nuchal translucency, a suspected cardiac or extracardiac malforma-tion, and a family history of cardiac malformation. Intervention: The fetus was imaged transabdominally. The four chamber view, outflow tracts, arterial duct, and aortic arch were assessed on cross sectional imaging and colour flow mapping. Pulsed Dop-pler of the atrioventricular valves was recorded if possible. Subsequently, the fetal karyotype was ascertained by chorionic villous sampling. Results: Pulsed Doppler recording of the tricuspid valve was obtained for 262 fetuses. Tricuspid regur-gitation was present in 70 (27%) of these, of whom 58 (83%) proved to have karyotype anomalies. In contrast, 68 (35%) of those without tricuspid regurgitation were found to have karyotype anomalies (95 % confidence interval 36 % to 59%, p < 0.001). Structural heart defects were detected in 34 of the 58 (59%) with tricuspid regurgitation and in 22 (32%) of those without. The chromosome defect mos