Traisrisilp Kuntharee, Zheng Yu, Choy Kwong Wai, Chareonkwan Pimlak
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Obstet Med. 2024 Jun;17(2):101-107. doi: 10.1177/1753495X231207676. Epub 2023 Oct 26.
Conventional thalassemia screening takes a stepwise approach and has limitations in comprehensively identifying all spectrums of mutations. This study aimed to investigate the performance of third-generation sequencing (TGS) compared to conventional molecular testing.
TGS was applied to validate all known variants detected by conventional testing and to detect missing variants in undiagnosed cases. The study was conducted at Maharaj Nakorn Chiang Mai Hospital between December 2021 and April 2022.
In total, 19 cases were included in this study, among which 52.6% (10/19) had known thalassemia variants, while 47.7% (9/19) cases were undiagnosed by conventional methods. All 16 variants previously detected were validated by TGS, and TGS additionally detected 43.8% (7/16) thalassemia variants for 36.8% (7/19) cases.
TGS could provide additional genetic diagnoses compared with conventional methods. Further cost-effectiveness studies with a larger sample size are needed to explore the role of TGS in clinical practices.
传统的地中海贫血筛查采用逐步检测的方法，在全面识别所有突变类型方面存在局限性。本研究旨在探讨与传统分子检测相比，第三代测序（TGS）的性能。
应用TGS验证传统检测所发现的所有已知变异，并检测未确诊病例中遗漏的变异。该研究于2021年12月至2022年4月在清迈玛哈拉吉医院进行。
本研究共纳入19例病例，其中52.6%（10/19）有已知的地中海贫血变异，而47.7%（9/19）的病例通过传统方法未被诊断出来。之前检测到的所有16种变异均通过TGS得到验证，并且TGS还为36.8%（7/19）的病例额外检测到了43.8%（7/16）的地中海贫血变异。
与传统方法相比，TGS能够提供更多的基因诊断结果。需要进行更大样本量的进一步成本效益研究，以探索TGS在临床实践中的作用。
