Comparison and analysis of the repeatability of positive results in two non-invasive prenatal screening systems in Shaanxi region
Objective To preliminarily evaluate the repeatability of positive results for target diseases in two non-invasive prenatal screening systems,namely non-invasive prenatal testing(NIPT)and expanded non-invasive prenatal testing(NIPT-plus),in pregnant women in the Shaanxi region.This aims to provide a basis for the internal laboratory quality control evaluation of the two detection methods and the clinical application of this project in the future.Methods 77 pregnant women who underwent NIPT and 95 pregnant women who underwent NIPT-plus for target diseases with positive results at the center of medical genetics in Northwest Women's and Children's Hospital from October 2021 to December 2022 were selected as the research subjects.This aim is to compare the repeatability of positive results for target diseases between the NIPT and NIPT-plus systems.Results For the 77 cases with positive results for target diseases in the NIPT system,repeated testing yielded consistent results in 72 cases,resulting in a repeatability rate of 93.5％.For the 95 cases with positive results for target diseases in the NIPT-plus system,repeated testing yielded consistent results in 67 cases,resulting in a repeatability rate of 70.5％.The difference was statistically significant between the two when compared(x2=14.485,P＜0.001).The differences in repeatability rates of positive results for target diseases within the NIPT system were not statistically significant(x2=1.047,P＞0.05).The differences in repeatability rates of positive results for target diseases within the NIPT-plus system were statistically significant(x2=39.016,P＜0.001).Conclusion The NIPT and NIPT-plus screening systems exhibit high repeatability in detecting positive results for common chromosome trisomies.The repeatability of NIPT-plus screening system is moderate to low in detecting sex chromosome abnormalities and microdeletion/microduplication syndrome(MMS).NIPT and NIPT-plus screening systems are recommended as first-line screening methods for trisomies of chromosomes 13,18 and 21.Further development of sequencing technology and optimization of algorithm models are necessary to improve the repeatability of NIPT-plus screening and ensure the reliability of results,thereby reducing the need for unnecessary invasive prenatal diagnosis.
万方数据
维普
