Prevention and control of birth defects and rare diseases in the era of genomic medicine
10.3760/cma.j.cn112150-20210427-00420
- VernacularTitle:基因组医学时代出生缺陷与罕见病的预防控制
- Author:
Jian WANG
1
;
Yufei XU
;
Qihua FU
Author Information
1. 上海交通大学医学院附属上海儿童医学中心遗传分子诊断科，上海 200127
- Keywords:
Genomics;
Birth defects;
Rare diseases;
Three level of prevention;
Sequencing
- From:
Chinese Journal of Preventive Medicine
2021;55(9):1023-1027
- CountryChina
- Language:Chinese
-
Abstract:
Birth defects and rare diseases have become major public health problems, and early prevention and control are the most effective interventions. In recent years, with the rapid development of genomic techniques such as high-throughput sequencing, the level of screening and diagnosis of genetic birth defects and rare diseases has been greatly improved. This article reviews the application of genomic technologies in the pre-pregnancy, preimplantation, prenatal and neonatal stages, as well as the trend of clinical transformation, highlighting the broad prospects of constructing an early and precise prevention and control system in the era of genomic medicine.
