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Published on: August 17, 2022
Preimplantation genetic diagnosis for X-linked agammaglobulinemia: a case report
Chenming Xu1, Bingsen Xu, Hefeng Huang
1Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.
Objective:
To report the first clinical experience of preimplantation genetic diagnosis (PGD) for X-linked agammaglobulinemia (XLA), which resulted from a point mutation in Bruton's tyrosine kinase (BTK) gene.
Design:
Case report.
Setting:
Clinical IVF laboratory.
Patient(S):
A couple carrying BTK gene mutation (c.832C>T) that is associated with XLA.
Intervention(S):
Day 3 embryos, obtained by IVF with intracytoplasmic sperm injection, underwent blastomere biopsy and DNA testing via nest polymerase chain reaction and restriction enzyme analysis to detect the presence of a maternal BTK mutation.
Main Outcome Measure(S):
Successful PGD for a BTK gene mutation and transfer of healthy embryos.
Result(S):
The patient received two PGD cycles. In total, 19 oocytes were fertilized, 15 embryos were suitable for embryo biopsy, 6 were diagnosed as unaffected, 6 were carriers, 2 were mutant, and the remaining 1 did not provide any diagnosis. In two treatment cycles, two ETs of three embryos each were performed. Unfortunately no pregnancy was achieved.
Conclusion(S):
We are the first to report a case of PGD for XLA. The result indicates that PGD is feasible for this genetic disease and may represent a viable alternative to prenatal diagnosis with the subsequent option of terminating an affected pregnancy.
