Abstract
This paper reports the case of a patient who sought assisted reproductive technology (ART) treatment and was referred to pre-implantation genetic diagnosis (PGD) on account of a chromosomal translocation presented with secondary infertility. The patient underwent a highly complex ART treatment and had 14 metaphase II oocytes collected on the day of follicular aspiration. The embryos were taken to extended culture and five were biopsied and vitrified. The embryo genetic report showed aneuploidy in four of the blastocysts, while the other resulted in 46, XX. In conclusion, chromosome translocations involving the X chromosome might result in the deregulation of gene expression and defective ovarian formation. Therefore, the genes present in the X chromosome are believed to be essential in normal ovarian function.
Highlights
For decades embryo viability has been assessed based on embryo morphology (Ebner et al, 2003), many cycles do not result in gestation
In 1990, pre-implantation genetic diagnosis (PGD) was performed for the first time in a couple with genetic disease to rule out the possibility of transmitting the condition to their offspring (Harper, 2009)
X chromosome known as "critical region Xq" - ranging from Xq13 to Xq28 - has been associated with the formation of the female gonad and ovarian function maintenance; the genes present in this chromosome are believed to be essential for normal ovarian function (Simpson & Rajkovic, 1999)
Summary
For decades embryo viability has been assessed based on embryo morphology (Ebner et al, 2003), many cycles do not result in gestation. The advancements in reproductive medicine have made it possible to evaluate embryo viability through chromosomal and gene mutation analysis. The technique is indicated to couples with known genetic or chromosomal alterations, with the purpose of preventing the transmission of the alterations to their offspring.
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