A Program on Noninvasive Prenatal Diagnosis of α-Thalassemia in Mainland China: A Cost–Benefit Analysis

Abstract

The aim of the present study was to determine the cost effectiveness of a noninvasive prenatal diagnosis (PND) program for α-thalassemia (α-thal) using ultrasound scan. During a 5-year period, 1923 pregnancies at-risk for homozygous α⁰-thal were recruited into the noninvasive PND program. There were 1452 women who avoided invasive testing because of a normal ultrasound scan. The remaining 471 showed abnormal fetal ultrasonographic findings, and invasive testing was recommended. The overall cost of running the noninvasive PND program was US$213,383, while the cost of running the invasive program would have been US$554,810. The total savings were estimated at US$356,499 for women with an unaffected pregnancy with a net saving of US$246 per capita. This study demonstrated that it is cost effective to run a noninvasive PND program for α-thal in an area where the disease is prevalent, and therefore effectively avoiding an invasive test in unaffected pregnancies.

Keywords:

• α⁰-Thalassemia (α-thal)
• cost effectiveness
• prenatal diagnosis (PND)
• ultrasound