1. Kawsar Human Genetics Research Center (KHGRC), Dr. Zeinali’s Medical Genetics Lab, Tehran, Iran
Abstract
Introduction
Preimplantation genetic diagnosis (pgd) is a strategy that has been applied for high-genetic-risk couples with a known genetic disorder who aim who avoid the risk of abortion. pgd can be used in any single gene disorders in combination with aneuploidy screening, hla typing and sex selection on each blastomere that biopsied from 8-cell stage embryos.
hemophilia a is an x-linked recessive bleeding disorder which is characterized by deficiency in factor viii activity.
this article presents experience of molecular pgd to select unaffected embryos for hemophilia a (in combination with aneuploidy screening and sex selection) in a carrier woman with an affected son and history of having an affected fetus. she also has two affected brothers.
Methods
Couples who were candidates for pgd were referred to our laboratory. genetic counseling was done. dna was extracted using salting out method. fragment analysis and haplotype mapping was performed using multiplex short tandem repeats (strs). mutation and informative str markers were investigated for each cell using multiplex nested pcr. mutation detection was performed using sanger sequencing.
Results
2 out of 5 blastomeres were transferred to woman’s uterus (normal male and carrier female). pre-natal diagnosis (pnd) confirmed pgd results. a girl and a boy were born in august 2014.
Conclusion
Pgd is a reliable technique with 99.9% accuracy. pgd’s failure rate is all associated with the standard risks of in vitro fertilization (ivf).
