Mortality attributable to birth defects (congenital anomalies, congenital disorders) is increasing in low and middle-income countries, including India. Surveillance is essential to inform strategies to address these disorders. The objective of this narrative review was to document the birth defects surveillance/reporting systems in India, their current status, structures and reporting formats. The review used empirical analysis of retrieved literature to answer the framed research questions. Publications on birth defects surveillance in India was negligible. Website searches yielded information on two surveillance systems. The WHO South East Asia Region-Newborn-Birth Defects (SEAR-NBBD) surveillance for congenital disorders uses a non-representative sample of hospitals to conduct passive surveillance for eight congenital anomalies. The system has a hierarchy of quality control measures to assure data accuracy. The second system is a child screening and early intervention service (the Rashtriya Bal Swasthya Karyakram, RBSK), which reports data on nine birth defects among children screened at birth, in the first six weeks of life, and till 18 years of age. The RBSK uses existing community-based staff and competency-appropriate screening tools that incorporate defined referral routes to secondary or tertiary level of care. Data from neither of these systems is available in the public domain. The review identified that the strengths and weaknesses of both these systems can be utilized to put in place a potentially sustainable sentinel surveillance for monitoring birth defects in India.

Anita Kar

Journal of Community Genetics

社区遗传学杂志是一个国际论坛，用于研究不断扩大的社区遗传学领域，将医学遗传学应用于人类社区以造福个人的艺术和科学。社区遗传学包括识别处于增加的遗传风险中的人并有兴趣评估这种风险的所有活动，以使处于风险中的人能够做出明智的决定。因此，社区遗传学服务包括遗传筛查、人群遗传状况登记、常规孕前和产前遗传咨询、遗传问题的公众教育以及相关伦理问题的公众辩论等活动。社区遗传学杂志具有多学科范围。它涵盖医学遗传学、流行病学、初级保健中的遗传学、遗传学的公共卫生方面以及伦理、法律、社会和经济问题。其目的是作为全球社区遗传学论坛，重点关注低收入和中等收入国家。该杂志的特色是原创研究论文、评论、简短的通信、项目报告、新闻和通信。计划报告描述了社区遗传学领域的说明性项目，例如，教育计划的设计和进展或基因库的协议和成就。不接受描述个别患者的病例报告。

The Journal of Community Genetics serves as an international forum dedicated to the expanding field of community genetics, aiming to apply medical genetics to human communities for the benefit of individuals. The essence of community genetics lies in identifying individuals at increased genetic risk and assisting them in assessing this risk, enabling informed decision-making. Community genetics services encompass genetic screening, population genetic status registries, routine preconception and prenatal genetic counseling, public education on genetic issues, and ethical discussions related to genetics. This journal has a multidisciplinary scope, covering medical genetics, epidemiology, genetics in primary care, public health genetics, as well as ethical, legal, social, and economic issues. Its goal is to serve as a global platform for community genetics, with a particular focus on low- and middle-income countries. The journal features original research articles, reviews, brief communications, project reports, news, and announcements. Project reports describe illustrative projects in the field of community genetics, such as the design and progress of educational programs or the protocols and achievements of biobanks. Please note that case reports describing individual patients are not accepted.

《Journal of Community Genetics》是一个国际性论坛，专注于不断发展的社区遗传学领域，旨在将医学遗传学应用于人类社区，以造福个人。社区遗传学的核心在于识别那些面临遗传风险的人群，并帮助他们评估这种风险，从而使他们能够做出明智的决策。相关的社区遗传学服务包括遗传筛查、群体遗传状况登记、常规孕前和产前遗传咨询、公众教育以及与遗传问题相关的伦理讨论等。该杂志涵盖多个学科，涉及医学遗传学、流行病学、初级保健中的遗传学、公共卫生中的遗传学，以及伦理、法律、社会和经济问题。其目标是成为全球社区遗传学的交流平台，特别关注低收入和中等收入国家。杂志内容包括原创研究论文、评论、简短通信、项目报告、新闻和公告。项目报告将描述社区遗传学领域的示范项目，例如教育计划的设计与进展或基因库的协议与成就。请注意，个别患者的病例报告不被接受。

Birth defects reporting and surveillance in India: a narrative review

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4