NIPT-plus在染色体微缺失和微重复综合征检测中的应用

Application of NIPT-plus in the detection of chromosomal microdeletion and microduplication syndrome

目的分析拓展性无创产前检测(NIPT-plus)在染色体微缺失和微重复综合征检测中的应用价值。方法将佛山复星禅诚医院2023年1月至2024年1月接受NIPT-plus检查的1891例孕妇作为研究对象,其中NIPT-plus检查确定染色体微缺失和微重复高风险孕妇行羊膜腔穿刺术检查,随即开展染色体微阵列分析(CMA),以此分析NIPT-plus在染色体微缺失和微重复高风险孕妇中的具体表现。结果1891例孕妇中染色体微缺失和微重复为34例,占比为1.80%,经CMA确诊10例;34例NIPT-plus阳性检出孕妇中8例CMA结果与NIPT-plus检查预测结果一致,其中2例经NIPT-plus检查未能捕获其他相关异常,经CMA验证,根据相关专家共识及临床建议,4例最终确定为致病性变异,5例确定为疑似致病变异,1例意义未明。结论NIPT-plus可作为染色体微缺失和微重复综合征的筛查风险项,值得应用。

Objective To analyze the application value of extended non-invasive prenatal testing(NIPT-plus)in detecting chromosomal microdeletion and microduplication syndrome.Methods A total of 1891 pregnant women undergoing NIPT-plus examination in Foshan Fosun Chancheng Hospital from January 2023 to January 2024 were selected as the study subjects.Among them,NIPT-plus examination confirmed that high-risk pregnant women with chromosomal microdeletion and microduplication who underwent amniocentesis,followed by chromosomal microarray analysis(CMA)to analyze the actual diagnostic efficacy of NIPT-plus in high-risk pregnant women with chromosomal microdeletion and microduplication.Results Among 1891 pregnant women,34 cases had chromosomal microdeletions and microduplications,accounting for 1.80%.A total of 10 cases were confirmed by CMA.Among the 34 cases of NIPT-plus positive pregnant women,eight cases had CMA results consistent with the predicted results of NIPT-plus examination.Among them,two cases failed to capture other related abnormalities through NIPT-plus examination.After CMA verification and based on the consensus of relevant experts and clinical recommendations,four cases were ultimately determined as pathogenic variants,five cases were determined as suspected pathogenic variants,and one case had unclear significance.Conclusion NIPT-plus can provide more accurate predictions for chromosomal microdeletion and microduplication and is worth applying.