关键词: Community Genetics Genetic services Nigeria congenital disorders sickle cell diseases

Mesh : Anemia, Sickle Cell Central Nervous System / abnormalities Community Health Services Congenital Abnormalities Genetic Counseling Genetic Diseases, Inborn Genetic Services Humans Infant, Newborn Musculoskeletal Abnormalities Nigeria

来  源:   DOI:10.29063/ajrh2020/v24i3.18

Abstract:
Nigeria has a large number of congenital disorders (CD). For instance, two out of every hundred children born in Nigeria have sickle cell disorders (SCD). Making Nigeria the country with the highest incidence of SCD. This article reviews the prevalence of CD in Nigeria; with emphasis on those having a heavy statistical burden on the country, the availability of community genetics services in Nigeria and the efforts being made to tackle the challenges of CD. A systematic review of birth prevalence of congenital malformations (CM) in Nigeria was done through a literature search, with no time restriction for publication dates. Only studies that included the birth prevalence of CM were included. Eligible studies with incorrect or missing data were excluded. This revealed a dearth of data on CD in Nigeria, as in most Low- and Middle-Income Countries. A predominance of CM of the musculoskeletal and gastrointestinal systems was found in Nigeria. However, the pattern of CM in the South-South region was more of the central nervous system. There is scarcity of resources to address the challenges of CD in Nigeria with feeble government assistance. Meanwhile, 70% of CD can be prevented and adequately managed by well implemented community genetics services.
摘要:
尼日利亚有大量的先天性疾病(CD)。例如,在尼日利亚出生的每100名儿童中有2名患有镰状细胞疾病(SCD)。使尼日利亚成为SCD发病率最高的国家。本文回顾了CD在尼日利亚的流行情况;重点是那些对该国造成沉重统计负担的人,尼日利亚社区遗传学服务的可用性以及为应对CD挑战所做的努力。通过文献检索对尼日利亚先天性畸形(CM)的出生患病率进行了系统评价,发布日期没有时间限制。仅包括包括CM出生患病率的研究。排除具有不正确或缺失数据的合格研究。这表明尼日利亚缺乏CD数据,就像大多数低收入和中等收入国家一样。在尼日利亚发现肌肉骨骼和胃肠道系统的CM占主导地位。然而,南南地区的CM模式更多是中枢神经系统。在政府援助不足的情况下,尼日利亚应对裁谈会挑战的资源匮乏。同时,通过实施良好的社区遗传学服务,可以预防和充分管理70%的CD。
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