Karyomapping in Preimplantation Genetic Testing of Patients with Beta-thalassemia and Sickle Cell Anemia

Abstract

This study aimed to first validate the karyomapping technique by using previously known beta globin (HBB) sample test results and then establish it as a sole PGT method for future detection of HBB mutations. Materials and Methods: The karyomapping protocol was first validated on a total of 30 samples with HBB mutation detected by conventional PGT techniques. Then karyomapping was used in 31 embryo samples as the sole technique to identify the HBB mutation status. Results: A high concordance (97%) was found between the karyomapping and conventional PGT results. Five PGT cycles with direct karyomapping for HBB mutations were carried out, and two pregnancies were established by transferring four unaffected and chromosomal normal embryos in two patients. Discussion and Conclusion: Karyomapping technique can reliably detect HBB mutations during clinical practice without prior test development and prevent the transfer of aneuploid embryos.