Health economic evaluation of prenatal screening and prenatal diagnosis strategy for fetal chromosomal aneuploidy in women with advanced maternal age
Lyu Yan, Qi Qingwei, Jiang Yulin, et al
ObstetricCenter, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730,China
Abstract: 【Abstract】 Objective To investigate the health economic evaluation of prenatal screening and prenataldiagnosis strategy for common fetal chromosomal aneuploidy in women with advanced maternal age. Method From April 1, 2016 to December 31, 2020, a total of 16 715 pregnant women with advancedmaternal age and singleton pregnancy in Peking Union Medical College Hospital or contracted prenatalscreening institutions were recruited in the prospective study. The participants were divided into non-invasiveprenatal testing (NIPT) group and amniocentesis diagnosis group based on their selection and informedconsent after genetic counselling. The incidence of fetal trisomy 21, 18 and 13, the detection rate and the falsepositive rate of NIPT, and the fetal abortion rate after amniocentesis were calculated. Using the data extracted fromthe two groups, a model of 10 000 pregnant women with advanced maternal age was conducted to comparethe cost, effect, benefit, safety index, cost-effectiveness ratio and benefit-cost ratio between the NIPT strategyand the amniocentesis diagnosis strategy. Univariate sensitivity analysis was conducted to analyze the keyfactors in the two strategies and to evaluate the change of the major parameters in the strategies on the healtheconomic effectiveness. Result Among 11 930 cases in the NIPT group, all of the 83 screening highriskpregnant women chose to perform amniocentesis. Forty-seven cases with fetal trisomy 21, 16 cases withtrisomy 18, and 2 cases with trisomy 13 were detected, respectively. No abortion occurred after amniocentesis.Among 11 847 cases with negative NIPT result, one trisomy 18 and one trisomy 21 were detected duringfollow-up. The compound detection rate, false positive rate, and positive predictive value of NIPT were 97.01%(65/67), 0.15% (18/11 863), and 78.31% (65/83), respectively. In the amniocentesis diagnosis group, the incidenceof fetal chromosomal abnormalities was 0.92% (44/4 785). Three cases of abortion occurred within 2 weeks afteramniocentesis and the karyotype of the aborted fetuses was normal. The compound incidence of trisomy 21, 18,13 was 0.66% (111/16 715). The fetal abortion rate after amniocentesis was 0.06% (3/4 868). The pregnancytermination rate of fetal chromosomal abnormality was 100%. The model showed the cost (15 119 191.43vs 22 327 710.34 Yuan), cost-effectiveness ratio (234 678.56 vs 336 223.13 Yuan), benefit-cost ratio (3.02 vs2.11), and safety index (0.000 76 vs 0.093) of the NIPT strategy were better than those of the amniocentesis diagnosis strategy. Univariate sensitivity analysis showed the higher detection rate and the lower false positiverate of NIPT and the lower NIPT price were associated with more significant health economic advantage incost-effectiveness ratio and benefit-cost ratio of NIPT. Conclusion Among pregnant women with advancedmaternal age, NIPT is effective in screening for common fetal chromosomal aneuploidy. Compared with theamniocentesis diagnosis strategy, the NIPT strategy has more significant health economic advantage as to save more public health resources and reduce the odds of invasive prenatal diagnosis.
2022, Vol. 10 
