孕产妇-出生缺陷生物样本库建设质量控制要点  

Quality management in the construction of pregnant and parturient women-birth defects biobank

作　　者：何建萍[1] 唐健 秦茂华[1] 侯江厚 苏虹[3] 沈翠花[4] 黄蓉霞[5] 吕梦欣 HE Jianping;TANG Jian;QIN Maohua;HOU Jianghou;SU Hong;SHEN Cuihua;HUANG Rongxia;LYU Mengxin(Department of Medical Genetics and Prenatal Diagnosis,Kunming Maternal and Child Care Hospital,Kunming,Yunnan 650031,China;Scientific Research Department,Kunming Maternal and Child Care Hospital,Kunming,Yunnan 650031,China;Genetic Counseling Clinic,Kunming,Yunnan 650031,China;Obstetrics Department,Kunming Maternal and Child Care Hospital,Kunming,Yunnan 650031,China;Gynecology Department,Kunming Maternal and Child Care Hospital,Kunming,Yunnan 650031,China)

机构地区：[1]昆明市妇幼保健院医学遗传与产前诊断科,云南昆明650031 [2]昆明市妇幼保健院科研部,云南昆明650031 [3]昆明市妇幼保健院遗传咨询门诊,云南昆明650031 [4]昆明市妇幼保健院产科,云南昆明650031 [5]昆明市妇幼保健院妇科,云南昆明650031

出　　处：《中国优生与遗传杂志》2022年第1期128-132,共5页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划项目(2016YFC1000100);昆明市卫生健康委卫生科研项目(2019-21-01-003,2020-01-03-001)。

摘　　要：目的以我院样本库建设的运行经验为基础阐述孕产妇-出生缺陷生物样本库建设各环节质量控制要点。方法孕产妇生物样本库依托"建立出生人口队列开展重大出生缺陷风险研究"国家重点专项项目的建设同步进行管理。结果孕产妇生物样本库的建设有助于"出生缺陷预防"研究的开展。结论通过样本库各环节质量控制,不断完善样本库的建设,为孕产妇及出生缺陷相关疾病研究提供有力支撑。Objective Based on the operation experience of our hospital, the key points of quality control in the construction of pregnant and parturient women-birth defects biobank are explained. Methods The biobank of pregnant and parturient women in our hospital relied on the construction of the National Key Special Project of ‘establishing a birth population cohort to carry out research on the risk of major birth defects’ for simultaneous management. Results The construction of a biobank for pregnant and parturient women is conducive to the development of ‘birth defect prevention’ research. Conclusion By the quality control of each link, the construction of the biobank is continuously improved to provide effective support for the research on diseases related to pregnant and parturient women-birth defects.

关 键 词：生物样本库 质量控制 信息管理 出生缺陷预防 

分 类 号：R172[医药卫生—妇幼卫生保健]