摘要
无创产前检测是一种通过抽取孕妇外周血浆中游离DNA片段(包含胎儿游离DNA)进行测序,进而分析得到胎儿的遗传信息,计算胎儿患染色体疾病风险的方法。本文通过描画无创产前检测现状,从产前适应症、检测对象、影响准确性因素以及应对策略四个方面进行分析,为后续产前检测工作提供思路和参考。同时,建议无创产前检测进行正常产检以及对临床其他检测指标进行综合评价,以提高筛查准确率,降低假阳、阴性率,减少误诊和漏诊的发生。
Non-invasive prenatal testing is a method of sequencing free DNA fragments(including fetal free DNA)extracted from the peripheral plasma of pregnant women,analyzing the genetic information of the fetus,and calculating the risk of fetal chromosomal diseases.This article summarizes the current situation of non-invasive prenatal testing from four aspects:prenatal indications,testing subjects,factors affecting accuracy,and coping strategies,providing ideas and references for subsequent prenatal testing work.It is recommended that non-invasive prenatal testing undergo normal prenatal examination and comprehensive evaluation of other clinical testing indicators to improve the accuracy of screening,reduce false positive and negative rates,and reduce the occurrence of misdiagnosis and missed diagnosis.
作者
詹雅杰
冯艳梅
赵彦利
ZHAN Yajie;FENG Yanmei;ZHAO Yanli(Beijing Ching-Yihe Women and Children's Hospital,Beijing 100016;Third Medical Center,PLA General Hospital,Beijing 100039)
出处
《中国科技纵横》
2024年第18期159-162,共4页
China Science & Technology Overview
关键词
产前诊断
无创DNA
综述
prenatal diagnosis
noninvasive DNA
summarize
