Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

Abstract

Purpose Implantation failure is known to be associated with an increased risk of aneuploidy in embryos, a situation leading to a pre-implantation genetic screening, not allowed in different countries like France. Our aim was to evaluate the gamete aneuploidy incidence in this context, using first polar body and spermatozoa aneuploidy screening. Methods Three groups were considered: 11 couples with pregnancy obtained after IVF for female infertility (group 1); 20 couples with pregnancy obtained after IVF for male infertility (group 2); and 35 couples with implantation failure (group 3). In group 3, 28 couples treated by ICSI volunteered for first polar body analysis (PB1). Results Spermatozoa aneuploidy rate was increased in groups 2 (1.6%) and 3 (2.1%) in comparison to group 1 (0.6%). PB1 aneuploidy rate was 35.4% in group 3. Finally, eight couples (32%) had no particular chromosomal risk in gametes, 15/25 (60%) presented an increased spermatic (>2%) or oocyte (>1/3) aneuploidy rate, and 2/25 (8%) had both. Conclusion Those results confirm that implantation failure has a heterogeneous origin, that gamete chromosome abnormality rate is one of the major contributing factors, and that 1st Polar body and spermatozoa aneuploidy screening or pre-implantation genetics screening may be indicated for these couples.

Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes?

“…The sperm aneuploidy rate (close to 0.5%) of patients heterozygous for inv(2)(p11q13) resembled the rate for patients with recurrent miscarriage and normal karyotype. This rate is close to those observed in the normal population and in our previous normal control series (0.6%) (13). Our results show no effect of this inversion on segregation of other chromosomes, which agrees with previous results in infertile patients (10).…”

Échecs répétés de fécondation in vitro : anomalies retrouvées sur le bilan diagnostique

“…Aucune anomalie n'a é té mise en é vidence chez les hommes. Selon la litté rature, il serait observé plus d'anomalies du caryotype chez les couples en é checs ré pé té s de FIV et les aneuploïdies spermatiques et ovocytaires seraient plus fré quentes [25,26].…”

Sperm FISH analysis of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat complex chromosome rearrangement

“…Slides were prepared as previously described (Vialard et al ., ; Ferfouri et al ., ). Given that chromosome 13‐, 14‐, 15‐, X‐ and Y‐specific probes did not appear to crosshybridise with other chromosomes in situ , an accurate analysis of chromosome segregation could be performed.…”