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Updated: Dec 9, 2025
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Retrospective analysis and mining of data from 10 840 patients undergoing non-invasive prenatal screening]
Fang Chen1, Meihua Tan, Yanwen Xu
1Department of Obstetrics and Gynecology, He Xian Memorial Hospital, Panyu District, Guangzhou, Guangdong 511400, China. ever.2000@163.com.
Objective:
To retrospectively analyze non-invasive prenatal screening (NIPS) data from two centers.
Methods:
The NIPS results of 10 840 samples were analyzed, including 21/18/13 trisomies (T21/T18/T13), sex chromosome and other autosomal aneuploidies, and copy number variants (CNVs). The maternal age, gestational week, body mass index and concentration of free fetal DNA (cffDNA) were also analyzed.
Results:
The average gestational age of the 10 840 pregnant women was (32.34±5.04) year old, and the average gestational week for NIPS was (17.60±3.55) week. The overall false positive rate for T21/T18/T13 was 0.11%, sensitivity was 100%, specificity was 99.89%, and positive predictive value was 81.5%. The positive predictive values for sex chromosome and other autosomal aneuploidies and CNVs were 56.67%, 11.76% and 83.33%, respectively. The incidence of T21/T18 in the elder women (35 years or elder) was 2.12 times(P<0.01) and 1.81 times (P> 0.05) that of young women. cffDNA was in proportion to gestational week (r = 0.207) and in inverse proportion to body mass index (r = -0.177). It has increased slowly before 15 weeks of gestation and thereafter at a rate of 0.5% per week after the 16th week.
Conclusion:
The performance of NIPS in this study is by large close to the reported in the literature, and the results can provide a reference for further study.
