Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22) with high rates of unbalanced sperm and embryos: a case report

Abstract

Background: Regarding the literature on the results of preimplantation genetic diagnosis (PGD) in reciprocal chromosomal translocation carriers seems to prevail a view that this method reduces the frequency of miscarriages, and the pregnancy rate is directly proportional to the number of normal spermatozoa. Therefore, we compared the results of sperm karyotype analysis of a carrier of familial t(2;7)(p11.2;q22) with PGD results. The carrier was ascertained as his wife had had two miscarriages.

Methods: Empirical data from a pedigree of t(2;7)(p11.2;q22) carrier was collected. A tri-color fluorescence in situ hybridization method (FISH) was used to show the meiotic segregation pattern in sperm of the proband. PGD of blastomeres from a single ICSI cycle and standard prenatal diagnosis procedures to confirm the PGD results was performed.

Results: Meiotic segregation pattern showed only 34.2% of normal/balanced spermatozoa. The high rate (42%) of miscarriages was observed in this family, which could be explained by chromosomal unbalanced karyotypes as a product of fertilization by unbalanced spermatozoa found with a frequency of approximately 66%. The lack of unbalanced progeny at birth suggests a natural selection of unbalanced fetuses. The 37.5% of normal/balanced embryos received after a single ICSI cycle and PGD was similar to the percentage of normal/balanced spermatozoa (34.2%). After 38 weeks a healthy girl with normal karyotype was born.

Conclusion: The presented study is an optimistic message for translocation carriers showing that even in case with more than 60% of genetically unbalanced sperm there is a reasonable chance for reproductive success.