Sensitivity of ultrasound screening for congenital anomalies in unselected pregnancies

To assess the influence of heart defect frequency and severity on screening sensitivity of the entire spectrum of congenital anomalies (CA) and on detection rate of congenital heart defect (CHD) when performing routine ultrasound screening in unselected pregnant women.

Secondary analysis was performed on data from Eurofetus, a large international collaborative study of ultrasound screening for CA in unselected populations. The present study addressed the relations (i) between the frequency of CHD in the screened population and the global sensitivity of ultrasound in detecting CA; (ii) between frequency of ventricular septum defect (VSD) and detection rate of CA and CHD; and (iii) between seriousness of CHD and CHD sensitivity.

A negative correlation (p<0.001) between CHD frequency and CA sensitivity was observed in this study. Likewise, a negative correlation was also found between frequency of VSD and sensitivity for CA or CHD detection (p<0.001). In addition, a positive significant relationship (p<0.001) was observed between sensitivity and severity of CHD.

A low CHD frequency introduces bias in CA and CHD sensitivity evaluation. Incomplete assessment of fetal and neonatal malformations brings on systematic error, leading to the pre-eminence of severe defects in the studied population sample and artificially improving sensitivity figures. On the other hand, from a clinician's viewpoint, the higher sensitivity for severe defect is welcomed, since their detection is most crucial for appropriate management.