Chromosome heteromorphisms: an impact on infertility.

Introduction: Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without a proven impact on phenotype.

Materials And Methods: We compared the presence of chromosome heteromorphisms in the karyotypes of two patient groups. The first group of patients consisted of 276 individuals of 138 infertile couples. The second group, consisted of 1,130 amniocentesis samples. This group was considered to be a sample of the fertile population, as the fetus being karyotyped is the result of a spontaneous pregnancy. Fetal karyotyping was made due to the standard indications for prenatal diagnosis, such as abnormal maternal serum screening results.

Results And Discussion: Eighteen infertile patients (6.52%) and twenty fetuses (1.77%) were found to have chromosome heteromorphisms. The difference between the two groups was statistically significant (p < 0.0001).

Conclusion: These results are consistent with other similar studies that suggest the yet undefined relationship between chromosome heteromorphisms and infertility.