Analysis of Sex Chromosomes Disorders in Preimplantation Genetic Diagnosis

Document Type : Original Article


1 Navid's Institute of Infertility, Tehran, Iran

2 Navid's Institute of Infertility, Tehran, Iran National Institute for Genetic Engineering and Biotechnology, Tehran, Iran Science and Research Campus, Islamic Azad University, Tehran, Iran

3 Science and Research Campus, Islamic Azad University, Tehran, Iran


Introduction: Preimplantation genetic diagnosis (PGD) is an advanced diagnostic tool in
the assisted reproductive technologies (ARTs) to avoid inheritance of genetic disease by
transferring unaffected embryos. The presence of numerical sex chromosome abnormalities
was studied using fluorescence in situ hybridization (FISH) with two sex chromosome
specific probes for X and Y chromosomes.
Material and Methods: In this experimental study, PGD has been performed for 10
couples, who were carriers of inherited X linked disorders. Conventional hormone therapy,
intracytoplasmic sperm injection, blastomer, biopsy and fluorescent in situ hybridization
were carried out for all candidates.
Results: Data was analyzed by descriptive statistics. In FISH analysis 93% of cells provides
clear signals for X and Y chromosomes from that 29(XX), 18(XY), 4(XXY), 1(XO) were
diagnosed. Transferring of embryos into uterus was performed in 10 cycles resulting into
two pregnancies and one born baby. The implantation rate of embryos was 20% and the take
home baby rate was 10% following ten PGD experiments.
Conclusion: Chromosomal disorders more frequently in embryos with dismorphology
especially in the embryos from older women. 


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