Carriers Age Research Articles

The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers.

To analyze factors affecting segregation and ploidy results from Robertsonian carriers, and determine chromosomes involved impact chromosome stability during meiosis and mitosis. This retrospective study include 928 oocyte retrieval cycles from 763 couples with Robertsonian translocations undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) using next-generation sequencing (NGS) between December 2012 and June 2020.The segregation patterns of the trivalent of 3423 blastocysts were analyzed according to the carrier's sex and age. A total of 1492 couples who received preimplantation genetic testing for aneuploidy (PGT-A) were included as the control group and matched according to maternal age and testing time stage. A total of 1728 (50.5%) normal/balanced embryos were identified from 3423 embryos diagnosed. The rate of alternate segregation in male Robertsonian translocation carriers was significantly higher than that in female carriers (82.3% vs. 60.0%, P < 0.001). However, the segregation ratio exhibited no difference between young and older carriers. Further, increasing maternal age decreased the proportion of transferable embryo cycle in both female and male carriers. And the ratio of chromosome mosaic from the Robertsonian translocation carrier group was significantly higher than that in the PGT-A control group (1.2% vs. 0.5%, P < 0.01). The meiotic segregation modes were affected by the carrier sex and were independent of the carrier's age. Advanced maternal age decreased the probability of obtaining a normal/balanced embryo. In additional, the Robertsonian translocation chromosome could increase the possibility of chromosome mosaicism during mitosis in blastocysts.

Interaction of acrocentric chromosome involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations.

Are meiotic segregation patterns of reciprocal translocations affected by the combined effect of chromosome type and carrier's sex? Interaction of an acrocentric chromosome (Acr-ch) involved in the translocation and sex of the carrier influences the proportion of alternate segregation for normal or balanced chromosome contents during meiotic segregation in autosomal reciprocal translocations. Carriers of reciprocal translocations are at a significantly increased risk of fertility problems due to the generation of unbalanced gametes in meiotic segregation of a quadrivalent. Previous studies have reported that meiotic segregation patterns of a quadrivalent can be affected by factors such as a carrier's sex and age and the chromosome type. However, the reported proportion of alternate segregation does not differ significantly, except in one study, and whether combined effects between these factors exist is unclear. A retrospective study of array comparative genomic hybridization (aCGH) outcome data from patients with autosomal reciprocal translocations was conducted to analyse meiotic segregation patterns and blastocyst euploidy rates. We enroled 473 couples whose embryos were tested between January 2013 and September 2016. Meiotic segregation patterns of 2101 blastocysts from 243 female carriers, including 76 cases with translocations involving Acr-ch, and 230 male carriers, including 88 cases with translocations involving Acr-ch, were analysed according to chromosome type, carrier's sex and age. In cases with translocations involving the Acr-ch subgroup, the proportion of alternate segregation (53.9 vs 33.4%, P < 0.0001) was significantly higher in male carriers than in female carriers, with the proportion of 3:1 segregation (6.8 vs 16.3%, P < 0.0001) being significantly lower. The proportions of alternate segregation were similar between sexes in cases with translocations not involving the Acr-ch subgroup. Meanwhile, in the female carrier subgroup, the proportion of alternate segregation (33.4 vs 45.2%, P < 0.001) was significantly lower and the proportion of 3:1 segregation (16.3 vs 8.2%, P < 0.001) was significantly higher in cases with translocations involving Acr-ch than in those not. In the male carrier subgroup, the proportion of alternate segregation (53.9 vs 46.9%, P = 0.031) was higher and the proportion of adjacent-1 segregation (27.1 vs 37.3%, P < 0.001) was significantly lower in cases with translocations involving Acr-ch than in those not. Carrier's age did not affect the meiotic segregation patterns. However the euploidy rates were significantly lower in couples with advanced compared to young maternal age respectively. Mosaic embryos were not identified using aCGH in this study. Patients with complex chromosome rearrangements and translocations involving sex chromosomes were excluded. Interchromosomal effect was not analysed. The findings of this study provide detailed information for genetic counselling of couples with autosomal reciprocal translocations on their chances of producing euploid gametes. This research was supported by the National Key Research and Development Program of China (2016YFC1000202); the National Natural Science Foundation of China (81671522); the Natural Science Foundation of Shandong Province in China (ZR2016HP09); and the Innovative Foundation of Reproductive Hospital Affiliated to Shandong University (20171114, 20171111). No competing interests are declared. N/A.

Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers

Balanced reciprocal translocation is the most common chromosome rearrangement, with an incidence of 1 out of 625 newborns. In reciprocal translocation carriers, genetically unbalanced gametes can be produced through three principal modes of segregation: adjacent-1, adjacent-2 and 3:1. In this study, we reviewed 133 cycles of preimplantation genetic diagnosis (PGD) for 65 couples with reciprocal translocation and analyzed pregnancy outcomes and the meiotic segregation mode of gametes of the translocation carriers using fluorescent in situ hybridization (FISH). We found that 285 of 1,508 embryos (18.9%) were normal or balanced. Thirty-three clinical pregnancies, including eight spontaneous abortions (21.6% per couple), were established. According to the meiotic segregation analysis, the frequencies of 3:1 and 4:0 segregation modes were significantly higher (P < 0.05) in female carriers, and the frequencies of adjacent-1 and chaotic segregation modes were significantly higher (P < 0.05) in male carriers. Our results indicate that meiotic segregation might be affected by the carrier's sex but not by the carrier's age or breakpoints.

A systems theory approach to a case of anorexia nervosa.

Systems theory views mental and psychosomatic illness as the natural consequences of a dysfunctional human interactional group. The symptom chosen is affected by the symptom carrier's age, sex, and unique individual characteristics. However, the reason the symptom develops and is maintained is to be found in the system(s) of which the symptom carrier is a part. A human system consist of two or more individuals who have an ongoing, often goal-directed, relationship with each other. The most important human system today is undoubtedly the family. The welfare of the individual is usually related to membership in a vital, well-adjusted family. A dysfunctional family easily becomes dependent on mental or behavioral deviations in one of its members as a means of preventing disintegration. We hope this article's description of a typical treatment situation will demonstrate how a systems theory approach differs from other forms of family therapy in its evaluations and techniques.