Expert consensus on the clinical application strategy of NIPT2.0, a new-generation non-invasive prenatal screening technology
10.3760/cma.j.cn511374-20240626-00353
- VernacularTitle:新一代无创产前筛查技术NIPT2.0临床应用策略专家共识
- Author:
Chenming XU
1
;
Chenghong YIN
;
Aihua YIN
;
Shanling LIU
;
Yulin JIANG
;
Qiong LUO
;
Hua WANG
;
Hefeng HUANG
Author Information
1. 复旦大学附属妇产科医院遗传中心，上海 200011
- Keywords:
Non-invasive prenatal screening;
Chromosomal abnormality;
Dominantly inherited monogenic disorder;
Expert consensus
- From:
Chinese Journal of Medical Genetics
2024;41(10):1155-1163
- CountryChina
- Language:Chinese
-
Abstract:
The new-generation non-invasive prenatal screening technology (NIPT2.0) is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies, microdeletion/microduplication syndromes and dominantly inherited monogenic disorders. NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques (NIPT and NIPT Plus) including incapability to detect fetal monogenic disorders, insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities (in particular trisomy 13, sex chromosomal abnormalities, and small-segment microdeletions and microduplication syndromes). How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification. The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus, which has put forwards suggestions over the clinical application strategy for NIPT2.0, including the scope of application, target disease, pre-test consultation, clinical application pathway, post-test genetic counseling and intervention, quality control and limitations, for the reference by peers, with a view to standardize its application and provide better clinical service.
