2020 年第 9 期 第 15 卷

预防出生缺陷优生优育是全民健康的重要基石

Prevention of birth defects, prenatal and postnatal care is an important cornerstone of health for all

作者：张璘1刘雪霞1宋桂宁1李艳晖1任梅宏1王建六2

英文作者：Zhang Lin1 Liu Xuexia1 Song Guining1 Li Yanhui1 Ren Meihong1 Wang Jianliu2

单位：1北京大学人民医院产前诊断中心 100044； 2北京大学人民医院妇产科 100044 

英文单位：1Prenatal Diagnosis Center Peking University People′s Hospital Beijing 100044 China; 2Department of Obstetrics and Gynecology Peking University People′s Hospital Beijing 100044 China

关键词：出生缺陷；优生优育；三级预防；全民健康

英文关键词：Birthdefects;Prenatalandpostnatalcare;Tertiaryprevention;Healthforall

• 摘要：

• 出生缺陷指胚胎或胎儿先天发生的形态、结构、功能、代谢等异常，可发生在各个组织、器官，表现为先天畸形或先天智力低下、聋哑等。出生缺陷是婴幼儿死亡的首要原因，也是最主要的致残、致障原因，由于部分缺陷患儿丧失生活、劳动能力，需要大量医疗费、社会保障费和福利费等，给家庭和社会带来严重的精神和经济负担。近年来，从国家层面讲，党和政府在推进优生优育、预防出生缺陷方面出台了一些政策和法规，为优生优育提供了有力保障。在出生缺陷防控中，广大妇幼工作者积极采取三级防控措施层层把关。一级预防通过孕前健康教育，提高保健水平，为优生优育创造良好的环境。二级预防通过孕期产前筛查及产前诊断技术，早发现、早诊断宫内严重缺陷儿，及时干预。三级预防通过对一些出生后的缺陷患儿早期诊断、早期治疗，有效地降低其致残率。通过出生缺陷三级预防的宣传、普及、推广，出生缺陷的发生率下降，取得了积极的成效，提高了出生人口的素质，为助力全民健康奠定了重要基石。

• Birth defects refer to abnormalities in the form, structure, function and metabolism of the embryo or fetus, which can occur in various tissues and organs, and are manifested as congenital malformations or congenital mental retardation, deafness and so on. Birth defects are the primary cause of infant death, as well as the main cause of disability and disability. Due to the loss of living and working ability, children with birth defects need a lot of medical expenses, social security expenses and welfare expenses, which bring serious mental and economic burden to the family and society. In recent years, the party and the government have promulgated some policies and regulations to promote prenatal and postnatal care and prevent birth defects, which provide a favorable guarantee for prenatal and postnatal care. In the prevention and control of birth defects, three levels of prevention and control measures have been adopted. Primary prevention is to improve the national cultural quality and health care level through health education before pregnancy and create a good environment for healthy birth and childbearing. Secondary prevention through prenatal screening and prenatal diagnosis technology, early detection, early diagnosis of severe intrauterine defects, timely intervention. The third prevention, through early diagnosis and early treatment of some children with post-birth defects, can effectively reduce their disability rate, minimize their disability rate. Through the publicity, popularization and promotion of three-level prevention of birth defects, the incidence of birth defects has been reduced, positive results have been achieved, and the quality of the birth population has been improved, which has laid an important foundation for the health of the whole nation.