Feasibility of non-invasive prenatal testing for the detection of fetal chromosomal copy number variants
10.3760/cma.j.cn511374-20220504-00304
- VernacularTitle:无创产前检测技术对于检测胎儿染色体拷贝数变异的可行性分析
- Author:
Ying XUE
1
;
Longwei QIAO
;
Quanze HE
;
Chunhua ZHANG
;
Xiaojuan WU
;
Guodong ZHAO
;
Ting WANG
Author Information
1. 苏州市立医院生殖与遗传中心，苏州 215000
- Keywords:
Noninvasive prenatal testing;
Copy number variant;
Chromosomal microarray analysis;
Positive predictive value
- From:
Chinese Journal of Medical Genetics
2024;41(6):696-701
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the feasibility of non-invasive prenatal testing (NIPT) for detecting fetal chromosomal copy number variants (CNV).Methods:A retrospective analysis was carried out on NIPT positive samples in Suzhou Municipal Hospital from January 1, 2019 to December 31, 2021. The effect of NIPT on fetal CNV detection was assessed by comparison with the results of karyotype analysis and/or chromosomal microarray analysis (CMA).Results:Among the 525 NIPT positive samples, 146 were CNV cases, of which 84 were further verified by karyotyping and/or CMA, 29(34.5%) were true positive. Among them, 12 cases were pathogenic variants, 2 cases were likely pathogenic variants and 15 cases were variants of uncertain significance.Conclusion:NIPT could detect CNV with high accuracy, and to combine CNV detection and chromosomal aneuploidy detection has great significance to improve the prenatal and postnatal care.
