Study On Disease Burdens Of Main Birth Defects And Economic Evaluation Of Their Preventive Interventions In China

BackgroundBirth defects are becoming an important factor that increases infant mortality and children morbidity based on the WHO report. Birth defects not only lead to the patient's premature death, morbidity and disability, but also bring about the psychological stress and depression to their parents and families, and create heavy economic burdens to the society.With rapid socioeconomic development and health improvement in China, birth defects are becoming an outstanding public health issue in China. It is estimated that 800-1,200 thousand new babies are born with any birth defect every year, sharing 4%-6% of total births annually in China. Birth defects are becoming an important factor leading to children death, premature death, morbidity, disability and low quality of life, and are challenging the Chinese health care delivery system. The central government has enacted some laws, regulations, and policies consecutively, which are targeting prevention and control of birth defects, and has developed a good context to conduct preventive interventions for birth defects.There are several barriers for systematic and scientific development of birth defects prevention programs in China, including studies lag behind, lack of basic information of birth defects of our country, and absence of evidence based evaluation of interventions. This study is intended to narrow those gaps to some extent, and is served for facilitating birth defects prevention programs and the health improvement in China.Study goalThis study is to measure disease burdens of some main birth defects, to conduct economic evaluation of interventions on birth defects, and to provide evidence-based policy suggestions in order to control birth defects and disabilities effectively and improve the population's health in China.Study contents1. To measure disease burdens due to Down's syndrome (DS) and congenital heart diseases (CHD), including disease economic burdens and intangible burdens, and to describe the incidence of neural tube defects (NTD).2. To assess effectiveness, cost-effectiveness or cost-benefit of different prevention strategies for NTD, DS and CHD. The periconceptional folic acid supplementation for NTD is a strategy of the primary prevention, the prenatal diagnosis for DS is a strategy of the secondary prevention, and the surgery for CHD is a strategy of the tertiary prevention.3. To propose policy suggestions based on evidences, and to facilitate effective implementation of preventions for birth defects in China.Study methodologies1. Method of disease economic burden. The study conducted the field survey in Hebei, Shaanxi and Shanghai, approaching DS's families in communities by helps of local maternal and child health institutions, disabled person unions, and special education institutions, and looking for CHD's patients in hospitals that provide the heart operation services. There were 222 cases of DS and 303 cases of CHD surveyed. Based on the survey of health services and literature reviews, the study measured the lifespan economic burden of a new case mainly by the incidence-based method. The economic burden of birth defects is calculated from direct healthcare costs, direct non-healthcare costs, developmental and special education costs, and indirect costs such as productivity loss. Estimation of the economic burden in the study includes both of those based on the effective demand and those based on the health care need.2. Method of qualitative study. All DS and CHD patients' caregivers were interviewed by the semi-structured interview; it was intended to have a good understanding of impacts of diseases on families and their expectations.3. Method of measuring quality of life. The study employed the EQ-5D instrument to measure quality of life for caregivers of DS and CHD patients, and analyzed factors that influence the EQ-5D health index and score.4. Method of economic evaluation. Based on the field survey and literature reviews, the study developed three decision tree models for three interventions, simulated different health outcomes in a cohort of 10 thousand target population, and evaluated their cost-effectiveness or cost-benefit. These interventions are periconceptional folic acid supplementation for NTD, prenatal diagnosis for DS (and other chromosome diseases), and surgery for CHD. Sensitivity analysis was used to test the robustness of models, and identify main factors that influence the results of models.Main results1. Disease economic burden due to DS and CHDThe study measured the economic burden of DS by the incidence and prevalence method. By incidence-based approach, there were 18 (95% CI 16-20) thousand new DS cases in 2003 in China; the average lifetime economic burden of a new DS amounted to 450 thousand Yuan from the societal perspective, and the total economic burden of all new DS cases accumulated to 8.1 (95% CI 7.3-9.0) billion Yuan in 2003 in China. By prevalence-based approach, there were 640 thousand (95% CI 570-710 thousand) alive DS cases in China by 2003; and the total economic burden of all alive DS was summed up to 5 (95%CI 4.5-5.5) billion Yuan in 2003 in China from the societal perspective.By incidence-based approach, there were 110-160 thousand new CHD cases in 2003 in China; the average lifetime economic burden of a new CHD amounted to 97 thousand Yuan from the societal perspective, and the total economic burden of all new CHD cases accumulated to 10.9-15.6 billion Yuan in 2003 in China.Economic burdens based on health care needs are higher than those based on health care demands, and it reveals issues of equity and access to care.2. Disease intangible burden due to DS and CHDIntangible burdens of birth defects on affected patients and families were composed of the great psychological stress and mental depression, the serious negative impacts on daily life and work, and tremendous economic burdens. By the EQ-5D quality of lifeinstrument, EQ-5D health index for DS and CHD caregivers were 0.75 and 0.69, respectively, and EQ-5D visual analogue scale score for DS and CHD caregivers were 0.49 and 0.55, respectively. Those figures were much lower than those of Beijing general population. It may reflect that birth defects have intangible pressures to patients' family members.3. Economic evaluation of preventive interventions for different birth defectsThe study found that the periconceptual folic acid supplementation strategy covering the whole nation (FA2) and the strategy covering both urban and rural areas in the north and rural areas in the south (FA4) can avert more NTDs than the strategy covering the north areas only (FA3). Average cost-effectiveness ratios of FA2, FA3 and FA4 were 65 thousand Yuan, 40 thousand Yuan, and 55 thousand Yuan, respectively.The study revealed that maternal serum and ultrasound screening in the first trimester (PD4) had the most effective and the safest outcome; maternal serum screening in the second trimester (PD3) was inferior to PD4 slightly, and maternal age screening (PD2) was worst. PD4, PD3 and PD2 could avert 1.73,1.41 and 0.53 DS cases, respectively. From cost-effectiveness analysis, the average cost-effectiveness ratio for PD2, PD3 and PD4 was 110 thousand, 460 thousand, and 380 thousand Yuan, respectively. Considering averted DS as benefits, PD2 and PD4 were paid off; and considering averted DS as benefits and miscarriage due to diagnosis as loss, costs for three strategies were over their benefits. If considering detection of other chromosome diseases as outcomes, average cost-effectiveness ratios for PD2, PD3 and PD4 declined dramatically, 30 thousand, 170 thousand, and 150 thousand Yuan respectively, and benefit-cost ratio were all over 1.The study estimated that costs for curing 1 alive CHD patient by operation was 38 thousand Yuan, incremental cost-effectiveness ratio was 35 thousand Yuan compared to the palliative treatment. The surgery for CHD is a cost-effective strategy.Main conclusions1. Disease burdens due to birth defects (such as DS and CHD) are dramaticallyheavy, so policy makers should pay more attentions to reduce or avoid burdens.Studies of disease burdens due to birth defects are an essential part of needs assessment for health policy. Disease burdens due to birth defects could be measured from the patient, the patient's family, and the society perspectives. Both economic burdens and intangible burdens due to birth defects are tremendously heavy. Birth defects, outstanding public health issues, are big threats to population's health improvement and socioeconomic development in a sustainable, holistic, and consistent way. Policy makers should realize the necessity, relevance and urgency of preventions of birth defects.2. Economic evaluation of preventive interventions for birth defects is to facilitate the efficiency of health resource allocation and utilization.Periconceptional folic acid supplementation for reducing NTDs, the strategy covering both the north areas and rural areas in the south would be better than other strategies in terms of effectiveness and cost-effectiveness.Prenatal diagnosis for preventing DS, the maternal age screening strategy was cheapest of the average cost-effectiveness ratio, but it is the worst in terms of effectiveness and safety. Screenings in the first trimester and the second trimester are strategies with higher costs and higher effectiveness and safety. If other chromosome diseases are included into consideration, screenings in the first trimester and the second trimester will be improved significantly in terms of cost-effectiveness and cost-benefits. In conclusion, screening strategies in the first trimester and the second trimester are worth implementing, and the screening strategy in the first trimester would be better than other strategies in terms of effectiveness, safety and cost-effectiveness.Surgery for CHD is a more cost-effective strategy, compared to the palliative treatment.Several factors influence cost-effectiveness of different interventions, including the incidence and prevalence of different birth defects, technical capacity of healthtechnology (such as efficacy of treatment, accuracy of diagnosis), providers' motivation and compliance, acceptance of the target population, dissemination and administration of health technology, price of health services and price ratio among services, etc.Policy recommendation1. To strengthen development of birth defects surveillance system, to conduct scientific researches, and to have a better understanding of birth defects.2. To mobilize the society and integrate societal resources, and to alleviate heavy burdens from patients with birth defects and their families.3. To input resources positively, to implement three tier preventive interventions, and to control birth defects effectively.4. To take health care needs and feasibilities into accounts, and to design practical preventive intervention programs for birth defects.5. To take comprehensive measures, to implement preventions in a deliberated way, and to improve quality and cost-effectiveness of different preventive interventions for birth defects.6. To formulate a framework of birth defects preventive interventions, and to promote knowledge transfer to policy, services and practices.