A retrospective analysis of 8 005 cases of prenatal genetic diagnosis of thalassemia using PCR-flow fluorescence hybridization
10.3760/cma.j.cn114452-20210519-00319
- VernacularTitle:PCR-流式荧光杂交用于8 005例地中海贫血产前基因诊断的回顾性分析
- Author:
Danqing QIN
1
;
Cuize YAO
;
Jicheng WANG
;
Yanlin HUANG
;
Tingting HU
;
Li DU
Author Information
1. 广东省妇幼保健院医学遗传中心，广东省妇幼代谢与遗传病重点实验室，广州511442
- Keywords:
Thalassemia;
PCR-flow fluorescence hybridization;
Liquid chip;
Prenatal genetic diagnosis
- From:
Chinese Journal of Laboratory Medicine
2022;45(5):483-487
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology in prenatal genetic diagnosis of thalassemia.Methods:8 005 cases of prenatal genetic diagnosis of thalassemia in Guangdong Women and Children Hospital from September 2017 to December 2020 were retrospectively analyzed. All samples were diagnosed by traditional genetic methods include multiple Gap-PCR, PCR-RDB, MLPA and Sanger sequencing. Meanwhile, PCR-flow Fluorescence Hybridization technology was used as a verification platform for detecting common mutation sites of thalassemia. The results were analyzed to evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology compared with traditional methods in prenatal genetic diagnosis of thalassemia.Results:By traditional methods, 1 939 cases (24.22%, 1 939/8 005) were normal and 6 066 cases (75.78%, 6 066/8 005) were diagnosed as thalassemia, including 4 513 cases of α-thalassemia, 1 475 cases of β-thalassemia, and 78 cases of αβ-thalassemia. By PCR-flow Fluorescence Hybridization technology, 7 845 samples were successfully diagnosed after initial interpretation by software. Compared with traditional methods, all the sensitivity, specificity and accuracy were 100%. The other 160 samples which failed in the initial interpretation can be successfully interpreted after review or manual interpretation.Conclusion:There were no differences between the two methods on the detecting of common mutation sites of thalassemia.
