Expert consensus on the application of digital PCR non-invasive prenatal screening technology for the preliminary implementation of fetal chromosomal disease screening
10.3760/cma.j.cn511374-20240318-00176
- VernacularTitle:数字PCR无创产前筛查技术应用于胎儿染色体病筛查初步实施的专家共识
- Author:
Peng DAI
1
;
Chen CHEN
;
Ganye ZHAO
;
Ning LIU
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
- Keywords:
Digital PCR;
Non-invasive prenatal screening;
Chromosomal disease;
Expert consensus
- From:
Chinese Journal of Medical Genetics
2024;41(10):1164-1170
- CountryChina
- Language:Chinese
-
Abstract:
Clinical application of serological screening and non-invasive prenatal testing (NIPT) both have difficulties to attain high detection rate and low cost. For its advantages of high detection rate, high sensitivity, simplicity, short turnaround time and low cost, digital PCR (dPCR) has provided a new choice for prenatal screening of trisomies 21, 18 and 13. To standardize the application of dPCR for prenatal screening, we have formulated this consensus by referring to relevant guidelines, expert consensus and latest literature, which has covered the basic requirements, application scope, pre-testing service, testing procedure, report interpretation, genetic counseling, and limitations for this technology.
