Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities

Abstract

An acceptable pregnancy rate can be achieved among couples with structural chromosomal abnormalities.

One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre

“…This often means that they lose valuable time during their most fertile period. As previously reported by Fridströ m et al (2001), when comparing Robertsonian versus with reciprocal translocations, we find that the Robertsonian translocation group is more likely to have an embryo transfer. However, if a woman from the reciprocal translocation group has an embryo transfer, the chance of establishing a pregnancy is even slightly higher than for a woman from the Robertsonian group.…”

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

“…The median number of eggs collected was 13 (range 4-39) and the median number of embryos biopsied was 6 (range [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. In our study the number of oocytes was not an important predictor for a live-birth pregnancy (OR 1.0, 95% CI 0.92-1.10, P ¼ 0.960).…”

“…5,6 Some approaches allow discrimination between normal and heterozygote chromosome complements, as well as detecting abnormal copy number for the translocation segments. [7][8][9] However, the most commonly used methodology of locus-specific probes applied to interphase nuclei from cleavage stage blastomeres, [10][11][12][13][14][15][16] or cells sampled from the trophectoderm, 17 will not differentiate between normal and heterozygote chromosome complements unless probes are designed to flank closely or span the breakpoints. 18 Guy's and St Thomas' Centre for PGD has undertaken 319 biopsy cycles with genetic testing for 171 couples with reciprocal translocations, which has resulted in the delivery of 85 live-born offspring.…”

Genetic Considerations in Recurrent Pregnancy Loss

“…The most frequently used probes identify specific chromosomes and readily show the presence of additional chromosomes or the absence of a chromosome, as seen in unbalanced translocations, trisomies, and monosomies. FISH can also be used to detect structural chromosome abnormalities, such as deletions (Fridstrom et al 2001). When used for PGS rather than PGD, FISH technology is limited by the number of probes that can be differentially labeled and discriminated at one time.…”