Hospital-based birth defects surveillance in Kampala, Uganda

摘要 据估计，每年有 790 万儿童出生时患有严重先天缺陷，其中 330 万是患有严重先天缺陷的儿童。 是指因出生缺陷相关因素而死亡的五岁以下儿童。全面、可靠 大多数发展中国家没有出生缺陷的数据。在许多资源匮乏的地区， 出生缺陷的基线患病率尚不清楚，对出生缺陷进行系统监测很困难或无法进行 存在的。妊娠期抗逆转录病毒治疗（ART）可以最大程度地降低病毒垂直传播的风险 HIV，因此建议所有感染 HIV 的孕妇接受有效的 ART 治疗方案，以 防止艾滋病毒传播给婴儿。然而，有人担心这种可能性 在受孕时或妊娠前三个月接受抗逆转录病毒治疗的女性，生出患有先天性心脏病的婴儿的风险增加 出生缺陷。该提案的目标是建立基于医院的出生缺陷监测计划 在乌干达坎帕拉，确定主要外部出生缺陷的患病率以及与 孕产妇危险因素包括针对这些缺陷的抗逆转录病毒治疗。乌干达坎帕拉的四家医院 将被纳入监测系统，每年约有 48,000 次交付。信息出生（活 和死产）无论胎龄大小，在四家医院出生的都将纳入监测范围 项目为期五年。信息丰富的出生是指新生儿发育良好，能够 确定是否存在出生缺陷。每个新生儿出生后都会尽快接受检查。 将获得婴儿测量值（体重、头围和身长），并对所有新生儿进行测量 由训练有素的助产士检查主要的外部出生缺陷。患有严重外部出生缺陷的新生儿将 征得同意后进行拍照，照片将用于分类诊断。根据需要， 照片和逐字描述将发送给出生缺陷专家以确认诊断并进行治疗 使用 ICD-10 疾病分类标准对出生缺陷进行编码。人口统计信息、艾滋病毒状况和 产科信息（产次状况、以前的活产和死产、以前出生的身体缺陷的存在） 儿童）将为所有母亲收集。每一位婴儿的母亲都被诊断出患有严重的外部出生缺陷 感兴趣的人将被要求参加病例对照研究。每种情况都会选择三个对照 与分娩医院相匹配。同意后，每位母亲将被要求回答以下问题： 怀孕期间服用的药物类型，包括抗逆转录病毒药物和复方新诺明、病史 以及更详细的人口统计信息。监测计划将提供有关当前情况的重要数据 乌干达出生缺陷的基线流行率，而病例对照研究将允许检查可能的情况 抗逆转录病毒治疗对婴儿结局的影响，同时还筛查其他常见的已知原因 出生缺陷。

ABSTRACT Every year there are an estimated 7.9 million children born with a serious birth defect and 3.3 million of these are children under five years of age who die from factors related to their birth defect. Comprehensive, reliable data on birth defects are not available for most developing countries. In many resource-poor settings, the baseline prevalence of birth defects is not known and systematic monitoring for birth defects is difficult or non- existent. Antiretroviral treatment (ART) in pregnancy can maximally reduce the risk of vertical transmission of HIV, and therefore it is recommended that all pregnant women with HIV receive effective ART regimens to prevent the transmission of HIV to their infants. However, there have been concerns about the possibility of women on ART at conception or during the first trimester having an increased risk of delivering an infant with a birth defect. The goal of this proposal is to establish a birth defect hospital based surveillance program in Kampala, Uganda and to determine the prevalence of major external birth defects and association of maternal risk factors including antiretroviral therapy to these defects. Four hospitals in Kampala, Uganda will be included in the surveillance system with approximately 48,000 deliveries per year. Informative births (live and stillborn) regardless of gestational age that are born at the four hospitals will be included in the surveillance project for a duration of five years. Informative births are those in which the newborn is formed well enough to ascertain whether or not there is a birth defect. Each newborn will be examined as soon as possible after birth. Infant measurements (weight, head circumference and length) will be obtained and all newborns will be examined for major external birth defects by trained midwives. Newborns with major external birth defects will be photographed after obtaining consent and the photographs will be used to classify the diagnosis. As needed, the photos and verbatim descriptions will be sent to birth defect experts for confirmation of diagnoses and for coding of the birth defect using ICD-10 disease classification criteria. Demographic information, HIV status and obstetric information (parity status, previous live and still births, presence of physical defects of births of previous children) will be collected for all mothers. Every mother of an infant identified with a major external birth defect of interest will be asked to participate in a case-control study. Three controls will be selected for each case matched on hospital of delivery. After consenting, each mother will be asked to respond to questions regarding, types of medications taken during pregnancy including antiretroviral drugs and cotrimoxazole, medical history and more detailed demographic information. The surveillance program will provide crucial current data on the baseline prevalence of birth defects in Uganda while the case-control study will allow examination of the possible effects of antiretroviral treatment on infant outcomes while also screening for other common known causes of birth defects.