Chinese Journal of Reproduction and Contraception 2025;45(10):1054-1057

doi:10.3760/cma.j.cn101441-20250425-00203

A case report of application of third-generation sequencing technology in preimplantation genetic testing for patients with autosomal dominant polycystic kidney disease

Yanru LI 1 ; Huijuan ZHANG 1 ; Chenchen CUI 1 ; Baoli YIN 1 ; Cuilian ZHANG 1

Affiliations

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Keywords

Third-generation sequencing; Autosomal dominant polycystic kidney disease; Preimplantation genetic testing

Country

China

Language

Chinese

Abstract

With the development of preimplantation genetic testing (PGT) technology, the application of third-generation sequencing technology in PGT has been increasing. This article reports the pregnancy outcome of a patient with autosomal dominant polycystic kidney disease who underwent PGT using the third-generation sequencing technology. It summarizes the technical characteristics of third-generation sequencing technology, as well as its significant advantages and limitations in PGT for families with de novo mutations.