Geburtshilfe Frauenheilkd 2011; 71 - A4
DOI: 10.1055/s-0031-1292695

Does preimplantation genetic diagnosis (PGD) reduce risk of adverse reproductive outcomes in balanced chromosome translocations' (BCTs) carriers?

N Andronova 1, NV Zaretskaya 1, O Doronina 1, O Bykovskaya 1, E Yutkin 2, A Solodovnikov 3, S Yakovenko 2
  • 1Research Centre for Obstetrics, Gynecology and Perinatology named after V.I. Kukakov, laboratory for reproductive genetics, Moscow, Russian Federation
  • 2IVF clinic Altra Vita, Moscow, Russian Federation
  • 3Wordwide Clinical Trial, Ekaterinburg, Russian Federation

BCTs' carriers are at higher risk for infertility, recurrent miscarriage, birth of a phenotypically abnormal child due to high rate of abnormal gametes and embryos [Ozawa N., 2008, Speicher M.R., Antonarakis S.E., Motulsky A.G., 2010]. PGD allows selection and transfer in utero chromosomally balanced embryos [Verlinsky Y., 1996]. However, in light of contradictory results of studies examining PGD effectiveness [Fischer J., 2010, Franssen M.T., 2011, Mastenbroek S, 2011] it is still unclear whether PGD is associated with substantial reduction in adverse reproductive outcomes in BCTs' carriers.

The aim of this cohort study was to assess risk of miscarriage, congenital fetal abnormalities in the PGD group and three control groups: C1– couples with pregnancies after natural conception; C2– couples undergoing conventional IVF/ICSI; C3– patients attempting IVF/ICSI with donor gametes.

Methods: In total of 57 couples in which one or both partners had a BCT were ascertained through infertility, recurrent miscarriage, birth of a phenotypically abnormal child or prenatal chromosome analysis. Patients who had a history of natural conceptions prior to PGD or IVF with donated gametes were included in appropriate groups as different cases (N=69). PGD via fluorescence in situ hybridization (FISH) was performed on blastomeres from day 3 embryos.

Results: (Fig.1) The PGD group had lower pregnancy loss rate than controls: 33.3% versus 63.2% in C1 and 50% in C2, (p1=0.084; p2=0.445). Chromosome translocations' carriers are 45% less likely to have a miscarriage compared to those after natural conception.

Conclusions: Although sample size is limited, these preliminary results suggest that PGD is associated with substantial pregnancy loss rate reduction. Additional study in this area in larger populations as well as further research of molecular mechanisms underlying related to BCT phenotypical abnormalities and PGD methods improvement are needed.

Figure 1: Flowchart of reproductive outcomes in BCTs' carriers.