Application of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai region.
10.3760/cma.j.cn511374-20210727-00624
- Author:
Li PAN
1
;
Wen SU
;
Yongmei CHEN
;
Daobin LIN
Author Information
1. Prenatal Diagnosis Center, Zhuhai Maternal and Child Health Care Hospital, Zhuhai, Guangdong 519001, China. 13600368328@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Genotype;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Pregnancy;
Prenatal Diagnosis/methods*;
Technology;
alpha-Thalassemia/genetics*;
beta-Thalassemia/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(8):824-828
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To compare the performance of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai area through comparison with traditional methods.
METHODS:A total of 1463 pregnant women were randomly selected. Following DNA extraction, high-throughput sequencing and conventional three-step thalassemia screening were carried out for each sample. Inconsistent results samples were validated by quantitative fluorescence PCR (QF-PCR) or Sanger sequencing. The results by the two methods were compared.
RESULTS:Among the 1463 cases, 318 (21.74%) were detected by conventional method, which included 210 (14.35%) with α-thalassemia, 97 (6.63%) with β-thalassemia, 11 (0.75%) with composite α- and β-thalassemia. Meanwhile, 379 cases (25.91%) of thalassemia were detected by high-throughput sequencing, which included 260 (17.77%) with α-thalassemia, 107 (7.31%) with β-thalassemia, 12 (0.82%) with composite α- and β-thalassemia. Six one cases were missed by the conventional method, which yielded a missed diagnosis rate of 16.09%, including 50 cases of α- thalassemia,10 cases of β-thalassemia, and 1 case of α-compound β-thalassemia. No cases of thalassemia were missed by high-throughput sequencing, and 10 rare thalassemia genotypes were detected.
CONCLUSION:High-throughput sequencing technology can improve the detection rate of thalassemia and reduce the missed diagnosis rate. It has a high application value in prenatal thalassemia screening in Zhuhai area and can more effectively prevent the birth of patients with severe thalassemia.
