We report on the phenotype and the reproductive history of an adult female patient with an unbalanced karyotype: 8p23 and 18p11.3 terminal deletions and 8p22 duplication. The indication for karyotyping of the 28-year-old patient was a structural rearrangement in her miscarriage specimen: 45,ХХ,der(8;18)t(8;18)(p23;p11.3). Unexpectedly, the patient had the same karyotype with only one normal chromosome 8, one normal chromosome 18, and a derivative chromosome, which was a product of chromosomes 8 and 18 fusion with loss of their short arm terminal regions. Fluorescence in situ hybridization revealed that derivative chromosome was a pseudodicentric with an active centromere of chromosome 8. Array comparative genomic hybridization confirmed 8p and 18p terminal deletions and additionally revealed 8p22 duplication with a total of 43 OMIM annotated genes being affected by the rearrangement. The patient had minor facial and cranial dysmorphia and no pronounced physical or mental abnormalities. She was socially normal, had higher education and had been married since the age of 26 years. Considering genetic counseling, the patient had decided to conceive the next pregnancy through in vitro fertilization (IVF) with preimplantation genetic testing for structural chromosomal aberrations (PGT-SR). She underwent four IVF/PGT-SR cycles with a total of 25 oocytes obtained and a total of 10 embryos analyzed. Only one embryo was balanced regarding chromosomes 8 and 18, while the others were unbalanced and demonstrated different combinations of the normal chromosomes 8 and 18 and the derivative chromosome. The balanced embryo was transferred, but the pregnancy was not registered. After four unsuccessful IVF/PGT-SR cycles, the patient conceived naturally. Non-invasive prenatal testing showed additional chromosome 18. The prenatal cytogenetic analysis of chorionic villi revealed an abnormal karyotype: 46,ХХ,der(8;18)t(8;18)(p23;p11.3)mat,+18. The pregnancy was terminated for medical reasons. The patient has a strong intention to conceive a karyotypically normal fetus. However, genetic counseling regarding this issue is highly challenging. Taking into account a very low chance of balanced gametes, emotional stress caused by numerous unsuccessful attempts to conceive a balanced embryo and increasing age of the patient, an IVF cycle with a donor oocyte should probably be considered.

We studied the impact of age and the serum anti-Müllerian hormone (AMH)/follicle-stimulating hormone (FSH) levels on the number of cumulus–oocyte complexes (COCs) retrieved from female reciprocal and Robertsonian translocation carriers after controlled ovarian hyperstimulation (COH). The number of COCs retrieved after COH was retrospectively analyzed in female translocation carriers and 46,XX partners of male translocation carriers from 100 couples. The median number of COCs varied from nine to 16 and did not differ among subgroups of women categorized by age, presence and type of a translocation. The number of COCs correlated negatively with the woman’s age in both the reciprocal and the Robertsonian translocation carriers, while in 46,XX women no correlation was detected. The number of COCs did not differ between the reciprocal and the Robertsonian translocation carriers aged either <35 or ≥35 years. In translocation carriers, the number of COCs correlated with the serum AMH level only in the younger-age subgroups; the correlation was strong positive in reciprocal and moderate positive in Robertsonian translocation carriers. The 46,XX women aged both <35 and ≥35 years showed similar moderate positive correlations. Across all subgroups, the number of COCs correlated moderately negatively with the serum FSH level only in Robertsonian translocation carriers aged <35 years. Our results suggest that chromosomal translocations per se do not increase the risk of poor oocyte retrieval outcome after COH. In translocation carriers, oocyte retrieval outcome depends to a large extent on their age. The serum AMH level strongly predicts oocyte retrieval outcomes only in young reciprocal translocation carriers, while the serum FSH level has a moderate predictive value in young Robertsonian 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 carriers 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 carriers 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 carriers sex, we provided intergroup comparisons. RESULTS: Comparative analysis of somatic pathology and chronic gynecological diseases didnt reveal significant differences between groups of female patients (Fischers 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 carriers sex, detected significant differences. Primary infertility was significantly more often detected in couples with a male translocation carrier, secondary with a female carrier (Fishers 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 (2 = 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 carriers 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 carriers 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.