Reproductive Risk of Couples with Reciprocal Translocations

Background: In carriers of reciprocal translocations, gametes with unbalanced chromosomes can be created during the reproductive period, which reduces the reproductive ability of the carriers. The reproductive risk of carriers of reciprocal translocations depends on the length of the translocation segment. The aim of this study was to evaluate the reproductive risk of reciprocal translocations with segments of different lengths for couples carrying these translocations. Methods: Chromosome analysis was performed using the Moorhead and Seabright method. For the exact identification of chromosomes, the standard method of G bands was used. Results: A cytogenetic diagnosis of reciprocal translocations with segments of different lengths was confirmed on 20 couples. Among the examined cases the most frequent (55%) were those with reciprocal translocations having a long translocated segment on one chromosome and a short translocated segment on another non-homologous chromosome. In total 64 pregnancies were conceived among the examined couples with reciprocal translocation. These pregnancies showed a higher risk of miscarriages and congenital anomalies: 59.4% resulted in recurrent miscarriages, 14.1% in stillborn babies, 10.9% in babies with congenital malformations, and 15.6% in normal birth. All three groups of subjects with different types of reciprocal translocations had a high risk for recurrent miscarriages. The three couples with reciprocal translocations had primary infertility. Conclusion: In our study population reciprocal translocations were identified as the main cause of impaired reproductive health in 17 couples and the primary cause of infertility in 3 couples. Among couples with reciprocal translocations involving long and short translocated segments, a higher risk of congenital anomalies and recurrent miscarriages was observed.