Successful Combined Preimplantation Genetic Testing for Aneuploidy (PGT-A) and for Monogenic Disorders (PGT-M) for Autosomal Dominant Polycystic Kidney Disease Following Kidney Transplant: A Case Report

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent genetic kidney disease characterized by the development of cysts in the kidney. It is caused mainly by mutations in the PKD1 or PKD2 genes. Therefore, preimplantation genetic testing for monogenic kidney disease (PGT-M) is a promising strategy for preventing the transmission of the disease to the offspring. Case Presentation: Here, we present a case of ADPKD who underwent combined PGT-M and PGT-aneuploidy (PGT-A) and conceived a healthy fetus via intracytoplasmic sperm injection (ICSI). Ultimately, a healthy girl was born. Conclusion: PGT-M offers a way for ADPKD couples to have a successful pregnancy and reduce the risk of passing on the disease. Genetic counseling and a team approach are essential for the effective use of PGT-M in these cases.