摘要
目的评估扩展性无创产前检测(expanded non-invasive prenatal testing,NIPT-Plus)对各类胎儿染色体异常的筛查效能,并探讨孕妇年龄对阳性预测值(positive predictive value,PPV)的影响。方法本研究回顾性纳入2021年1月至2025年3月河源市妇幼保健院接受NIPT-Plus检测的4891例孕妇,对于提示高风险的病例,以染色体核型和(或)染色体微阵列分析诊断结果为金标准,计算各类染色体异常的PPV。结果4891例接受NIPT-Plus检测的孕妇中,共有104例(2.13%)提示高风险,其中87例(83.65%)接受产前诊断。NIPT-Plus对常见三体综合征的总体PPV为66.67%(18/27),其中T21、T18、T13的PPV分别为92.86%(13/14)、66.67%(4/6)和14.29%(1/7),对性染色体异常、罕见常染色体非整倍体、微缺失/微重复综合征PPV分别为32.00%(8/25)、4.55%(1/22)和62.50%(10/16);胎儿分数中位数为21.56%,与孕周呈微弱正相关(r=0.112,P<0.001),但未显著影响筛查结果(P>0.05);高龄孕妇(≥35岁)的总体PPV显著高于年轻孕妇(57.50%比28.00%,P=0.004)。结论NIPT-Plus对常见非整倍体(尤其T21)和微缺失/微重复综合征展现出良好的筛查效能,但对其他染色体异常的PPV相对有限,其临床解读须结合异常类型和孕妇年龄及影像学进行差异化分析,这对于实现精准产前咨询至关重要。
Objective To evaluate the performance of expanded non-invasive prenatal testing(NIPT Plus)in screening for various fetal chromosomal abnormalities and to examine the influence of maternal age on the positive predictive value(PPV).Methods This retrospective study included 4,891 pregnant women who underwent NIPT-Plus in Heyuan Maternal and Child Health Hospital between January 2021and March 2025.For cases identified as high-risk,chromosomal karyotyping and/or chromosomal microarray analysis(CMA)served as the gold standard for diagnosis.The PPVs for different types of chromosomal abnormalities were calculated accordingly.Results Among 4,891 pregnant women who underwent NIPT-Plus testing,104 cases(2.13%)were identified as high-risk,of whom 87(83.65%)received prenatal diagnostic testing..The overall PPV for common trisomies was 66.67%(18/27),with PPVs for T21,T18,and T13 being 92.86%(13/14),66.67%(4/6),and 14.29%(1/7),respectively.The PPVs for sex chromosome aneuploidies,rare autosomal trisomies,and microdeletion/microduplication syndromes were 32.00%(8/25),4.55%(1/22),and 62.50%(10/16),respectively.The median fetal fraction was 21.56%,which exhibited a weak positive correlation with gestational age(r=0.112,P<O.O01),but did not significantly influence screening results(P>0.05);Furthermore,the overall PPV was significantly higher in women of advanced maternal age(≥35 years)compared to their younger counterparts(57.50%vs.28.00%,P=0.004).Conclusion NIPT-Plus demonstrates high efficacy in screening for common aneuploidies,particularly Trisomy 21(T21),and microdeletion/microduplication syndromes.However,its PPV for other chromosomal abnormalities remains relatively limited.Consequently,the clinical interpretation of results necessitates a differentiated analysis that integrates the specific type of abnormality,maternal age,and imaging findings,which is crucial for achieving precise prenatal counseling..
作者
颜丽香
刘志祥
陈永久
彭涛
Yan Lixiang;Liu Zhixiang;Chen Yongjiu;Peng Tao(Department of Medical Genetics,Heyuan Maternal and Child Health Hospital,Heyuan,Guangdong 5170O0,China;Department of Public Health,Heyuan Maternal and Child Health Hospital,Heyuan,Guangdong 517000,China;Depart ment of Obstetrics and Gynecology,Heyuan Maternal and Child Health Hospital,Heyuan,Guangdong 517000,China)
出处
《中国产前诊断杂志(电子版)》
2025年第4期52-58,共7页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
基金
2023年河源市社会发展科技计划项目(230526101607915)。
关键词
扩展性无创产前检测
阳性预测值
染色体异常
产前诊断
Expanded Non-Invasive Prenatal Testing
Positive Predictive Value
Chromosome Aberrations
Prenatal Diagnosis
