Bermejo-Sánchez Eva, Botto Lorenzo D, Feldkamp Marcia L, Groisman Boris, Mastroiacovo Pierpaolo
Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII), Avda. Monforte de Lemos, 5. Pabellón 3. 1ª planta, 28029, Madrid, Spain.
ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), ISCIII, Madrid, Spain.
J Community Genet. 2018 Oct;9(4):411-415. doi: 10.1007/s12687-018-0387-z. Epub 2018 Sep 18.
Birth defects (BD), also known as congenital anomalies, are structural or functional abnormalities present at birth as a result of abnormal prenatal development. Their cause can be broadly categorized as genetic, environmental, or a combination of both. It is estimated that approximately 3-6% of newborn infants worldwide are affected by BD, many of which are associated with serious morbidity, mortality, and lifelong disabilities. The International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), founded in 1974, promotes worldwide birth defect surveillance, research, and prevention through the ongoing sharing of data, expertise, and training. In this review, we show value and contribution of BD surveillance systems in pursuing these aims. In the time of personalized medicine for many rare and common diseases, there are still massive gaps in our understanding of the causes and mechanisms of many birth defects, especially structural congenital anomalies. The main aim of the Sustainable Development Goals (SDGs), adopted by the United Nations in 2015, is to ensure healthy lives and promote well-being for all children. One specific goal is to end preventable deaths of newborns and children less than 5 years of age by 2030. The SDGs also underscore the need to consider BD as a priority in the global child health agenda. It can be said that counting BD helps BD to count. By sharing data and expertise and joining in surveillance and research, BD surveillance programs can play a major role in increasing our understanding of the causes of BD, and promoting prevention.
出生缺陷（BD），也称为先天性异常，是指由于产前发育异常而在出生时就存在的结构或功能异常。其病因大致可分为遗传因素、环境因素或两者的综合作用。据估计，全球约3%-6%的新生儿受出生缺陷影响，其中许多与严重的发病、死亡和终身残疾相关。国际出生缺陷监测与研究信息中心（ICBDSR）成立于1974年，通过持续共享数据、专业知识和培训，在全球范围内推动出生缺陷监测、研究和预防工作。在本综述中，我们展示了出生缺陷监测系统在实现这些目标过程中的价值和贡献。在针对许多罕见病和常见疾病的精准医疗时代，我们对许多出生缺陷，尤其是结构性先天性异常的病因和机制的理解仍存在巨大差距。2015年联合国通过的可持续发展目标（SDGs）的主要目标是确保所有儿童健康生活并促进其福祉。其中一个具体目标是到2030年消除5岁以下新生儿和儿童的可预防死亡。可持续发展目标还强调需要将出生缺陷作为全球儿童健康议程的优先事项。可以说，统计出生缺陷有助于重视出生缺陷问题。通过共享数据和专业知识以及参与监测和研究，出生缺陷监测项目可以在增进我们对出生缺陷病因的理解以及促进预防方面发挥重要作用。
