【摘要】 目的 分析比较胎儿染色体微阵列分析（CMA）和羊水核型分析对无创产前筛查（NIPT）结果提示胎儿高风险的临床诊断意义。方法 选取2023年6月至2024年6月948例行产前诊断的羊膜腔穿刺的孕妇，分析其中171例NIPT高风险，进行羊水穿刺孕妇的羊水核型分析结果及CMA的结果。结果 在多种产前诊断指征合并时，CMA检测和核型分析阳性预测值较高；NIPT检测21-三体综合征（T21）、18-三体综合征（T18）、13-三体综合征（T13）阳性预测值（PPV）分别为95.12%、66.67%、50.00%，与文献报道基本相符。CMA对21-三体、性染色体异常及其他常染色体异常检出率高于羊水核型分析，尤其在常染色体微缺失微重复综合征检测优势明显。研究中CMA检测出10例意义未明变异（VOUS），经遗传咨询孕妇选择继续妊娠，随访婴儿未发现异常。结论 NIPT可作为高效初筛手段，CMA和羊水核型分析联合确诊优势显著，CMA检测VOUS时遗传咨询至关重要。建议临床推广NIPT联合CMA及羊水核型分析的诊断模式，加强技术人员培训和数据积累，以提升产前诊断准确性，降低出生缺陷发生率。更多还原

【Abstract】 Objective To analyze and compare the clinical diagnostic significance of fetal chromosomal microarray analysis(CMA) and amniotic fluid karyotype analysis for cases where the results of non-invasive prenatal testing(NIPT) indicate a high-risk for the fetus. Methods A total of 948 pregnant women who underwent amniocentesis for prenatal diagnosis from June 2023 to June 2024 were selected. Among them, the results of amniotic fluid karyotype analysis and CMA were analyzed in 171 cases with high-risk NIPT. Results When multiple prenatal diagnostic indications coexist, the positive predictive values of CMA and karyotype analysis are relatively high. The positive predictive values(PPV) of NIPT for trisomy 21(T21), trisomy 18(T18), and trisomy 13(T13) were 95.12%, 66.67%, and 50.00%, respectively, which were basically consistent with the literature reports. CMA had a higher detection rate of trisomy 21, sex chromosome abnormalities, and other autosomal abnormalities than amniotic fluid karyotype analysis, especially in the detection of autosomal microdeletions and microduplications. In this study, CMA detected 10 cases of variants of unknown significance(VOUS). After genetic counseling, the pregnant women chose to continue the pregnancy, and no abnormalities were found in the follow-up of the infants. Conclusion NIPT can be used as an efficient initial screening method. The combined use of CMA and amniotic fluid karyotype analysis for confirmation has significant advantages. Genetic counseling is crucial when CMA detects VOUS. It is recommended to promote the diagnostic model of NIPT combined with CMA and amniotic fluid karyotype analysis in clinical practice, strengthen the training of technical personnel, and accumulate data to improve the accuracy of prenatal diagnosis and reduce the incidence of birth defects.更多还原