神经管缺陷预防、筛查、诊断、咨询及干预多学科专家共识

doi:10.12372/jcp.2025.24e0672

摘要/Abstract

摘要：

神经管缺陷（NTDs）是一类致死致残性出生缺陷。为进一步指导神经管缺陷的预防、筛查、诊断及管理，中国妇幼保健协会出生缺陷防治与分子遗传分会等组织多学科专家讨论，并参考国内外最新研究进展及共识指南，提出以下专家共识，供国内同道参考。

关键词: 神经管缺陷, 叶酸增补, 预防, 筛查及诊断, 治疗康复, 专家共识

Abstract:

Neural tube defects (NTDs) are a class of birth defects that can lead to death or disability. To further guide the prevention, screening, diagnosis, and management of NTDs, the Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association and other organizations convened a panel of multidisciplinary experts for discussion. This panel referenced the latest domestic and international research progress and consensus guidelines, formulating the following expert consensus.

Key words: neural tube defects, folic acid supplementation, prevention, screening and diagnosis, treatment and rehabilitation, expert consensus

中国妇幼保健协会出生缺陷防治与分子遗传分会, 中国医师协会医学遗传医师分会儿童遗传病学组, 国际神经修复学会中国委员会神经遗传发育疾病分会. 神经管缺陷预防、筛查、诊断、咨询及干预多学科专家共识[J]. 临床儿科杂志, 2025, 43(2): 81-92.

Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association, Pediatric Genetics Group of the Medical Genetics Physicians Branch of the Chinese Medical Doctor Association, Neurogenetic and Developmental Disorders Section of the China Chapter of the International Neurorestoration Society. Multidisciplinary expert consensus on the prevention, screening, diagnosis, counseling and intervention of neural tube defects[J]. Journal of Clinical Pediatrics, 2025, 43(2): 81-92.

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