摘要目的:探讨数字PCR(dPCR)技术在胎儿常见非整倍体产前诊断中的应用价值。方法:基于dPCR技术平台建立快速检测21、18、13三体的方法。回顾性分析2017年1月至2023年12月浙江省台州医院产前诊断中心收集的173份羊水样本。以染色体核型分析为金标准，采用双盲法评估多重dPCR检测体系的诊断效能。本研究通过了浙江省台州医院医学伦理委员会的审查(批准号：K20250339)。结果:核型分析共确诊59例21三体、5例18三体、2例13三体、101例正常核型及6例染色体结构异常或嵌合体。针对染色体数目异常(非整倍体)样本，dPCR检测( Zcut-off ＝ 4.0，置信度99.997%)结果与核型分析完全一致(敏感性100%，特异性100%；Kappa ＝ 1)。针对染色体结构异常或嵌合体样本，dPCR准确检出4例，但2例21三体因其嵌合比例极低(3.3%、6.9%)误判为正常。 结论:本研究建立的多重dPCR检测体系对于检测常见的染色体非整倍体具有高度的准确性，24小时内即可获得结果，可作为传统核型分析的有效补充，为临床紧急决策提供可靠的依据。

abstractsObjective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.