Background: Previously reported pathological series suggest that cardiac malformations are universal in trisomy 18. We examined our experience of fetal echocardiography in trisomy 18 for comparison.
Methods: Of 255 fetuses with trisomy 18 detected in our centre between January 1999 and June 2004, 174 were evaluated using fetal echocardiography. Our results were compared to four previous echocardiographic and four autopsy series, comprising 89 and 110 patients, respectively.
Results: Of these 174 fetuses, 114 were examined between 10 and 14 weeks gestation and the remainder between 15 and 33 weeks. An increased nuchal translucency measurement was the reason for referral in most of the early cases and extracardiac anomalies in the remainder. Images were non-diagnostic in 12 cases (7%), all examined at <15 weeks gestation. Abnormal cardiac findings were detected in 118 of the remaining 162 fetuses (73%), including 15 with functional anomalies. The various heart malformations included ventricular septal defects, tetralogy of Fallot, left heart disease, and atrioventricular septal defects. In all series used for comparison, a similar diversity of disease was seen. In pathological series of trisomy 18, structural heart malformations were found in all cases, but some had lesions which would not be detectable echocardiographically in the fetus.
Conclusion: Abnormal cardiac findings are detectable echocardiographically in the majority of cases of trisomy 18 examined during fetal life, but not in all. A wide spectrum of heart defects is seen. Diagnosis of heart malformations can be made reliably, even in the first trimester at the time of nuchal translucency measurement.