Molecular PGD in Iran: reporting experience on more than 500 blastomeres

Background: Preimplantation genetic diagnosis (PGD) has been developed to detect genetic disorders before pregnancy. In this method diagnoses are done on blastomeres biopsied from 8-cell stage embryos created by in vitro fertilization method (IVF). Molecular PGD is a PCR-based approach which is used in Dr. Zeinali’s Medical Genetics Lab. The aim of this study was to report PGD results for diagnosing some single gene disorders which are usually accompanied with evaluating chromosomal aneuploidies (QF), HLA typing and sex selection.Methods: In this study, haplotype analysis was performed using short tandem repeats (STRs) in a multiplex nested PCR and the Causative mutation was detected by Sanger sequencing Result: This study was approved by research committee of Kawsar Human Genetics Research Center. PGDs for 106 cases (527 blastomeres) were performed since 2009. 64 blastomeres for beta-thalassemia, 31 for beta-thalassemia and QF, 40 for beta-thalassemia and sex selection, 74 for beta-thalassemia and HLA typing, 32 for Hemophilia A and sex selection, 28 for Hemophilia A, sex selection and QF, 16 for Hemophilia B and sex selection, 34 for PKU and sex selection, 16 for DMD and sex selection, 9 for DMD, sex selection and QF, 46 for Fanconi Anemia and HLA typing, 16 for Deafness and sex selection, 19 for EB and HLA typing, 8 for FHL4 and HLA typing, 7 for CF and QF, 39 for sex selection and 48 for sex selection and QF.Conclusion: In conclusion, PGD is regarded as a powerful diagnostic tool for carrier couples who desire a healthy child and wish to avoid medical abortion.

Keywords:

Haplotype , Iran , Nested PCR , Molecular PGD , STR