Is genetic ultrasound cost-effective?

Abstract

During the past 10 years, investigators have reported studies examining the potential of second-trimester genetic sonography to identify fetuses at risk for trisomy 21. The consensus among most investigators is that genetic sonography offers an alternative to universal amniocentesis in high-risk women and lowers the loss rate of normal fetuses subjected to amniocentesis because of risk factors associated with advanced maternal age or abnormal maternal-serum screening. Although there is now consensus that genetic sonography may be a useful screening tool, there has been a paucity of data regarding its cost-effectiveness. In this review, 3 studies are examined and cost-effectiveness of genetic sonography evaluated. The first study compared genetic sonography and universal amniocentesis and found that genetic sonography was cost-effective if the sensitivity is 75% or higher, resulted in a savings to the healthcare system of 9%, and decreased the loss rate of normal fetuses following amniocentesis by 87%. The second study examined the use of genetic sonography in women less than 35 years of age who underwent maternal-serum triple-marker serum screening. Women who were screen negative but who were classified as moderate risk for trisomy 21 (risk 1:191 to 1:1,000) were offered genetic sonography. Amniocentesis was offered only if the genetic sonogram was abnormal. The study demonstrated that the use of genetic sonography in this group of patients increased the detection rate of trisomy 21, was cost effective, and was a safe procedure. The third study examined the use of genetic sonography in women 35 years of age and older who declined amniocentesis following second-trimester genetic counseling. Genetic sonography was offered to this group of patients followed by amniocentesis if an abnormal ultrasound finding was present. The data were analyzed for various acceptance rates of amniocentesis by the patient when informed of the ultrasound findings. Examination of the data demonstrated this approach increased the detection rate of trisomy 21, was cost-effective, and was a safe procedure. In conclusion, genetic sonography when applied in the above clinical settings is cost-effective, results in a higher detection rate of trisomy 21, and is safe procedure.