Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies
10.3760/cma.j.cn511374-20250402-00196
- VernacularTitle:基于数字PCR技术的胎儿常见染色体非整倍体快速诊断方法的建立及应用
- Author:
Xuejiao CHEN
1
;
Yanfeng YANG
;
Yuanyuan YING
;
Feiyan PAN
;
Zhiqiang GU
;
Weimeng JIAO
;
Zehang HE
;
Huihui XU
Author Information
1. 温州医科大学附属台州医院中心实验室，临海 317000
- Publication Type:Journal Article
- Keywords:
Prenatal diagnosis;
Digital PCR;
Chromosomal karyotype analysis;
Trisomy 21;
Trisomy 18;
Trisomy 13
- From:
Chinese Journal of Medical Genetics
2025;42(5):592-596
- CountryChina
- Language:Chinese
-
Abstract:
Objective: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.
