Prenatal diagnosis of congenital heart disease; prospects and problems

Routine fetal echocardiography has been submitted as an antenatal screening test for congenital heart disease despite a wide range of efficacy reported. Hence, evaluation of the variable results of prenatal ultrasound screening programs was pursued. As the studies appeared to have a heterogeneous design, the originally reported figures have been corrected for one plausible prevalence of cardiovascular anomalies. Clinical setting (general hospitals vs. teaching hospitals), case ascertainment (retrospective vs. prospective; follow-up on (suspected) cases only vs. routine follow-up) and length of follow-up (< 1 year vs. a longer period) all have similar effects on the reported yield of cases and sensitivity of the proposed screening test. Notably, a relatively low yield of cases causes a seemingly high sensitivity, whereas a higher yield of cases causes a seemingly low sensitivity. Additional factors of study design, e.g. case definition, diagnostic procedures and appliances used, were usually not described in detail, yet may also have affected the results. Evaluating diagnostic tests apparently demands a rigorous study design to overcome biased results. Furthermore, no sufficient evidence could be found meriting current routine prenatal screening for congenital heart disease.