• cost analysis;
  • economic evaluation;
  • fetal malformations;
  • prenatal diagnosis;
  • ultrasound screening



To perform a cost-effectiveness analysis comparing the current Italian situation of no organized screening program for structural fetal malformations with an organized screening model involving a scan at 19–21 weeks of gestation.


Assumptions were made about the number of pregnant women examined per year, the number of ultrasound examinations (screening and diagnostic) and amniocenteses, the prevalence of fetal anomalies, ultrasound sensitivity and specificity and the rates of termination of pregnancy and of fetal death. The costs included procedures performed during and after the diagnosis of malformations, and the resources required to organize the program. Data sources were a literature review, estimates and national tariffs. A sensitivity analysis considered variations in screening test sensitivity, number of private scans and costs of ultrasound, fetal echocardiography, amniocentesis, care for malformed infants and organization.


An organized program would increase the number of diagnosed malformations (+10.7%) and decrease the number of malformed infants (−19.9%). It would also decrease the total cost of screening, from €505 billion to €400 billion (−20.7%), decrease the cost per woman examined from €971 to €770 (−20.7%) and decrease the cost per malformed fetus diagnosed from €79 085 to €56 637 (−28.4%).


In all scenarios considered, an organized program would lead to increased detection of malformations at lower cost. Further cost analyses should provide a better representation of resources used, especially those related to the care of malformed infants, while cost–benefit assessments should include all the consequences of prenatal diagnosis, such as those deriving from false results and those for both the woman and society, including ethical issues. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.