Clinical application and reflection of molecular biology technology in the tertiary prevention of birth defects
10.3760/cma.j.cn112150-20210414-00366
- VernacularTitle:分子生物学技术在出生缺陷三级预防中的临床应用及思考
- Author:
Jianbin YANG
1
;
Shiqiang SHANG
Author Information
1. 浙江大学医学院附属儿童医院实验检验中心 国家儿童健康与疾病临床医学研究中心，杭州 310052
- Keywords:
Genetic diseases, Inborn;
Tertiary prevention;
Genomics;
Next generation sequencing
- From:
Chinese Journal of Preventive Medicine
2021;55(9):1028-1032
- CountryChina
- Language:Chinese
-
Abstract:
Genetic factors are the main causes in occurrence of birth defects. With deep research in the field of genomics and application of molecular biology technology, the carrier status, fetal genetic variation and postpartum screening are respectively detected from pre-pregnancy, pregnancy and post-natal screening (before onset of disease) under perfect three-level prevention and control system for birth defects. Prospective detection, early diagnosis and intervention can prevent the occurrence of birth defects related to genetic diseases at multiple levels. This article describes and analyzes current clinical application and existing challenge of molecular biology techniques in prevention of birth defects related to genetic diseases.
