Fetal echocardiography: the role of the screening procedure

1841 pregnant women without any risk factor for heart malformation of the fetus underwent an echocardiographic screening at an average gestational age of 23 weeks. Seven cases of heart diseases were diagnosed (0.38%), of which one died in utero at 28 weeks and another one was interrupted. In four cases the karyotype was carried out prenatally, while in the remaining three it was performed only after birth. There were 11 false-negative (0.59%), mainly concerning anomalies of minor clinical significance. Within this group, two newborns with interatrial defect of the ostium secundum type appeared to be affected by trisomy 21. Therefore, the rate of congenital heart diseases in live births not at risk (0.86%) was in line with the data reported in paediatric literature. On the other hand, the association with chromosomal anomalies was surprisingly frequent (4 out of the 9 karyotypes performed were anomalous). Such finding should be verified by studying a larger non-selected population. However, a fetal karyotype should be offered, for its practical consequences, also in those cases of cardiac anomalies of lesser clinical significance.