Current status and reflection on molecular diagnosis of birth defects
10.3760/cma.j.cn112150-20231008-00240
- VernacularTitle:出生缺陷分子诊断的现状与思考
- Author:
Ming QI
1
;
Qihua FU
;
Xiaoqing ZHANG
Author Information
1. 上海交通大学医学院附属上海儿童医学中心儿科转化医学研究所 上海市儿科临床分子诊断重点实验室，上海 200127
- Keywords:
Molecular diagnostic techniques;
Birth defects;
Genomics;
High-throughput sequencing;
Editorial
- From:
Chinese Journal of Preventive Medicine
2024;58(2):166-170
- CountryChina
- Language:Chinese
-
Abstract:
Birth defects are a major problem threatening the health of children in China. Genetic factors play a major role in birth defect etiology. Molecular diagnosis is the key means for screening, diagnosing, and preventing birth defects caused by genetic factors. How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China. This article reviews the current status of birth defects in China, the application of molecular diagnostic technology in birth defect prevention and control, and the challenges in promoting its use, to provide references for clinical practice in birth defect molecular diagnosis.
