陕西地区两种无创产前筛查系统阳性结果的重复性比较分析

Comparison and analysis of the repeatability of positive results in two non-invasive prenatal screening systems in Shaanxi region

摘要

目的 初步评估陕西地区孕妇外周血胎儿游离DNA产前检测(NIPT)与拓展性孕妇外周血胎儿游离DNA产前检测(NIPT-plus)两种产前筛查系统应用于目标疾病阳性结果重复性的优劣,为日后两种检测方法的实验室内部质控评价及该项目的临床应用提供检测依据。方法 选择2021年10月至2022年12月在西北妇女儿童医院医学遗传中心就诊的77例NIPT、95例NIPT-plus产前筛查系统目标疾病阳性结果的孕妇作为研究对象.比较NIPT与NIPT-plus产前筛查系统应用于目标疾病阳性结果的重复性。结果 对77例NIPT产前筛查系统目标疾病阳性结果进行重复检测,两次检测结果一致为72例,重复性一致率为93.5%;对95例NIPT-plus产前筛查系统目标疾病阳性结果进行重复检测,两次检测结果一致为67例,重复性一致率为70.5%,两者比较差异有统计学意义(χ²=14.485,P<0.001).各项NIPT产前筛查系统内目标疾病阳性结果重复性一致率比较差异无统计学意义(χ²=1.047,P>0.05).各项NIPT-plus产前筛查系统内目标疾病阳性结果重复性一致率比较差异有统计学意义(χ²=39.016,P<0.001)。结论 NIPT与NIPT-plus筛查系统对常见染色体三体的筛查阳性结果具有较高的重复性,NIPT-plus筛查系统对性染色体异常和染色体微缺失/重复综合征(MMS)筛查的重复性为中低水平,推荐NIPT与NIPT-plus筛查系统作为13、18、21号染色体非整倍体的一线筛查方法;需发展测序技术和优化算法模型,提高NIPT-plus筛查的重复性,保证结果的可靠性,以减少不必要的有创产前诊断.

Abstract

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 (χ ²=14.485, P<0.001). The differences in repeatability rates of positive results for target diseases within the NIPT system were not statistically significant (χ²=1.047, P>0.05). The differences in repeatability rates of positive results for target diseases within the NIPT-plus system were statistically significant (χ²=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.

关键词

产前筛查 / 孕妇外周血胎儿游离DNA产前检测 / 拓展性孕妇外周血胎儿游离DNA产前检测 / 重复性

Key words

prenatal screening / non-invasive prenatal testing / expanded non-invasive prenatal testing / repeatability

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基金资助

国家自然科学基金资助项目(82201865)