Issue: 2018, Vol. 23, No. 3
PRE-IMPLANTATION GENETIC DIAGNOSIS OF EMBRYOS IN THE PROGRAM OF EXTRACORPORAL FERTILIZATION AS A PREVENTIVE MEAN OF HEREDITARY PATHOLOGY
- Keywords
- pregnancy, embryo, preimplant diagnosis, genetic abnormities
- Abstarct
- Actuality. Disorder of early embryo development in the most cases is determined by genetic defect of embryo/ fetus. Embryo pre-implantation genetic diagnosis by aGGH technique - comparative genomic hybridization on chips in the program of extracorporal fertilization is proved to be high-informative diagnostic technique which allowed to determine numerical and structural (deletions and duplications) anomalies of embryo chromosomes. Objective: to evaluate frequency and spectrum of chromosome aberrations in emryos obtained according to extracorporal fertilization program. Materials and methods. 70 samples of embryo trophoectoderma were obtained from 25 couples in extracorporal fertilization program; these samples were examined by aGGH technique. Results. From trophoectoderma samples obtained from 70 embryos normal kariotype was revealed in 24 embryos (34,3%); numerical and structural kariotype abnormities were diagnosed in 46 (65,7%). The spectrum of the abnormities revealed was as follows: so called chaotic kariotype when multiple numerical and structural chromosome abnormities were presented - in 11,2% cases; trisomies by one pair of chromosomes - in 12,9% cases; monosomies by one pair - in 8,6%; combined numerical abnormities by autosomes (simultaneous presence of tri- and monosomies by two and three pairs of chromosomes) - in 14,3% cases; numerical abnormities by sexual chromosomes - in 8,6%; deletions and duplications - in 17,2%. In the examination of embryos obtained from couples with normal kariotype (23 from 25 couples examined) imbalanced abnormal kariotype was diagnosed in 62,7% cases. Conclusions. The obtained results allowed to recommend to perform embryo prenatal genetic diagnosis both in case of chromosome aberrations’ presence in couple itself and in all cases of supplementary reproductive technologies application.
10-13_Фетисова