Issues in reproductive health in chromosome translocation carriers

BACKGROUND: It is common a wide range of reproductive disorders in couples with structural chromosome aberration in one of the partners, such as infertility, miscarriage, unsuccessful assisted reproductive technologies attempts. In this regard, predicting the reproductive outcome in a particular couple is an extremely difficult task. To solve it, it is necessary to consider the influence of many factors, including the type of chromosome translocation and the carrier’s sex.

AIM: To evaluate the structure of reproductive disorders in couples where one of the partners was a chromosome translocation carrier, depending on its type: Robertsonian or reciprocal, and carrier’s sex.

MATERIALS AND METHODS: In this retrospective cohort study, we analyzed the clinical and anamnestic data of 100 couples where one of the partners was a chromosome translocation carrier. Couples applied to fertility centers between March 2009 and May 2019. To assess the effect of the type of chromosomal translocation and carrier’s sex, we provided intergroup comparisons.

RESULTS: Comparative analysis of somatic pathology and chronic gynecological diseases didn’t reveal significant differences between groups of female patients (Fischer’s exact test, p > 0,05). An intergroup comparison of reproductive outcomes in couples divided by the type of chromosome translocation: reciprocal or Robertsonian, and the carrier’s sex, detected significant differences. Primary infertility was significantly more often detected in couples with a male translocation carrier, secondary — with a female carrier (Fisher’s exact test, p = 0,01). Pregnancy significantly more frequent occurred and, it was also significantly more often spontaneously interrupted in couples with a female carrying of reciprocal or Robertson translocation (χ² = 13,29, df = 3, p = 0,004). Thus, a female carrying a chromosomal translocation is characterized by a greater risk of miscarriage.

CONCLUSIONS: The chromosome translocation type and the carrier’s sex have a differential effect on the nature of reproductive disorders. Female carrying a chromosomal translocation increases the likelihood of both pregnancy and its spontaneous termination. In contrast, in couples with a male translocation carrier, the probability of both pregnancy and miscarriage is lower. Thus, the type of translocation and the carrier’s sex determine the individual risks of reproductive disorders, including infertility and miscarriage, which should be considered in the planning, choosing the method of onset and management of pregnancy.