Schuler-Faccini Lavinia, Sanseverino Maria Teresa V, de Rocha Azevedo Lígia Marques, Moorthie Sowmiya, Alberg Corinna, Chowdhury Susmita, Sagoo Gurdeep S, Burton Hilary, Nacul Luis C
INAGEMP (Instituto Nacional de Genética Médica Populacional) at Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil,
J Community Genet. 2014 Apr;5(2):147-55. doi: 10.1007/s12687-013-0165-x. Epub 2013 Aug 30.
Recent economic improvement in Brazil has been reflected in better maternal-child health indicators, with decreases in infant and perinatal mortality. However, under-five mortality due to congenital disorders remained unchanged, and congenital disorders have become the second leading cause of infant mortality. In the present study, we used the PHG Foundation Health Needs Assessment (HNA) Toolkit with the objective of first assessing the burden of disease caused by neural tube defects (NTDs) in Brazil and the impact of interventions already put in place to address the burden, and second to evaluate and prioritize further interventions and policies required for its prevention and treatment. The results from these two components of the HNA process are described in this paper. The published literature was reviewed to identify studies of NTDs (prevalence; morbidity; prenatal, perinatal, and postnatal mortality; treatment or prevention). Data on indicators of maternal and child health were obtained directly from the Brazilian Ministry of Health, through the online Live Births Information System (SINASC) and from the Mortality Information System (SIM). Descriptive analyses included reports of the rates of NTD in liveborns, fetal, and infant deaths. Differences between folic acid flour pre-fortification (2001-2004) and post-fortification (2006-2010) periods were expressed as prevalence rate ratios. Around 20 % of fetal deaths were related to congenital disorders with approximately 5 % of those being NTDs. For infant mortality, congenital disorders were notified in approximately 15 % of cases, with NTDs present in 10 % of the malformed children. Although statistically significant, the prevalence rate ratio (PRR) for spina bifida in live births was only 0.937 (95 % confidence interval (CI) 0.884-0.994), a decrease of 6.3 % when comparing the pre and post-fortification periods. The impact of fortification seemed to be more visible in fetal deaths due to anencephaly (PRR = 0.727, 95 % CI 0.681-0.777) and for spina bifida (PRR = 0.700, 95 % CI 0.507-0.967) with associated decreases of 27.3 and 30 %. The lower impact of folic acid fortification in Brazil, compared to other Latin-American countries, can be due to differences in dietary habits, concentration of folic acid in flour, as well as characteristic population ethnic composition. The HNA led to the identification of the needs to be addressed in Brazil, including the improvement of reporting congenital disorders within the nationwide birth certification system, and revision of the policy of flour folic acid fortification.
巴西近期的经济改善反映在母婴健康指标的提升上，婴儿和围产期死亡率有所下降。然而，先天性疾病导致的五岁以下儿童死亡率保持不变，先天性疾病已成为婴儿死亡的第二大主要原因。在本研究中，我们使用了PHG基金会健康需求评估（HNA）工具包，目的一是评估巴西神经管缺陷（NTDs）所导致的疾病负担以及已实施的应对该负担的干预措施的影响，二是评估并确定预防和治疗所需的进一步干预措施及政策的优先级。本文描述了HNA过程这两个部分的结果。我们查阅了已发表的文献，以确定关于NTDs的研究（患病率、发病率、产前、围产期和产后死亡率、治疗或预防）。母婴健康指标数据直接从巴西卫生部通过在线活产信息系统（SINASC）以及死亡率信息系统（SIM）获取。描述性分析包括活产儿、死胎和婴儿死亡中NTDs发生率的报告。叶酸强化面粉前（2001 - 2004年）后（2006 - 2010年）时期的差异以患病率比表示。约20%的死胎与先天性疾病有关，其中约5%为NTDs。对于婴儿死亡率，约15%的病例报告有先天性疾病，畸形儿童中有10%患有NTDs。虽然具有统计学意义，但活产中脊柱裂的患病率比（PRR）仅为0.937（95%置信区间（CI）0.884 - 0.994），与强化前后时期相比下降了6.3%。强化的影响在无脑儿导致的死胎中似乎更为明显（PRR = 0.727，95% CI 0.681 - 0.777）以及脊柱裂（PRR = 0.700，95% CI 0.507 - 0.967），分别下降了27.3%和30%。与其他拉丁美洲国家相比，巴西叶酸强化的影响较低，这可能是由于饮食习惯、面粉中叶酸浓度以及人口种族构成特征的差异。HNA导致确定了巴西需要解决的问题，包括改善全国出生证明系统中先天性疾病的报告，以及修订面粉叶酸强化政策。
