1. Department of ART for Infertility Treatmet Research Centre of Ob/Gyn &Perinatology Named After V.I. Kulakov Ministry of Health And Social Development of Russian Federation Zhanna Glinkina Assistive Reproductive Technologies (ART) Outcomes Optimization Thought PGD: Role of Medico-genetic Factors

2. More than 30 years of IVF in the world!

3. 1.Developed and applied new drugs for ART programs; 2. developed new protocols ART; 3. introduced new technologies (ICSI, PGD, TESA, cryopreservation of embryos, etc.) ART program provided an opportunity to have children to couples with previously untreatable forms of infertility

4. 1. Reproductive behavior changed man; 2. changed the patients included in the program ART (patients with cancer history, patients with genetic disorders, etc.)

5. Must exercise great caution when conducting genetic program of ART in this group of patients

6. Scientific - practical activities of VRT offices in different countries has shown that changes in genotype among patients with impaired reproductive function occur much more frequently than in the population. Reproductive disorders are usually caused by chromosomal and gene mutations, the presence of a hereditary predisposition to the disease. Mutations in the parents, leading to disruption of reproduction and the impossibility of conceiving a child naturally, the application program VRT can be transmitted through the gametes of the future offspring.

7. Patients IVF in 29 couples out of 391 (7.4%), one of the spouses had changes in the karyotype (24 women, 5 men, 3.7%) In the group of patients ICSI program In 37 couples out of 558 (6.6%), one of the spouses had changes in the karyotype (7 women, 30 men, 3.3%) The level of chromosomal aberrations in the population - 0.5%

8. Heterozygous carriers of mutations CYP21V different methods were found in 37.1% of cases Of all the identified mutations in men and women in both groups, deletions of CYP21B gene was 70.7%; duplication - 24.4%.

9. Mutations in the CFTR gene were detected in 14.8% of patients MutationsThe results of semen analysis F508delОАТ W1282XОАТ 2143delTОАТ 1677delTA Astenoteratozoospermiya 2184insA obstructive azoospermia F508del и 5Т oligozoospermia 5ТОАТ nonobstructive azoospermia Astenoteratozoospermiya Teratozoospermia 5Т/5Т nonobstructive azoospermia obstructive azoospermia

10. AZF microdeletions of the Y chromosome loci were detected in 15.1% of patients ICSI program Del sY 1192 Del sY 1291 Del sY 242 Del sY 1125 Del sY 254, sY255 Del sY 1291, Del sY 1197 Del sY 242, Del sY 254, Del sY 157 Del sY 1192, Del sY 254, Del sY 255, Del sY 1206 Del sY 1192, Del sY 254, Del sY 255, Del sY 1291, Del sY 1206

11. conclusion: The high frequency of chromosomal and genetic changes in the genotype of patients ART program determines the need for medical genetic counseling and cytogenetic survey of both spouses and on the testimony of the molecular - genetic survey to include them in IVF / ICSI.

12. Results of the study of chorion Karyotypeself-pregnancyinduced by pregnancy number (700) % from abnormal karyotypes number (57) % Of abnormal karyotypes normal 259(37%) 26(45,6%) trisomy autosomes 322 73 18 58 triploidy 59 12 1 3,2 tetraploids 12 3 1 3,2 monosomy X 32 8 7 22,6 structural abnormalities 8 2 1 3,2 others disorders 82 3 9,6 Total anomalous 441(63%) 31(54,4%)

13. What does the PGD?  2) reducing the frequency of spontaneous abortions; 3) reduction in the incidence of multiple of pregnancies. 1) The birth of healthy offspring;

14. With PGD, %Without PGD %Р Pregnancy rate per cycle33.333.60.09 Pregnancy rates in embryo transfer36.635.80.04 The frequency of implantation31.722.070.08 The frequency of abortion I trimester7.744.2< 0.01 The frequency of abortion in the II trimester -7 ART in couples where the husband has patozoospermiya

15. After biopsy blastomeres, further development of embryos is observed in 90-95% of cases

16. Analysis of the results of PGD Patients with genetic mutations showed that 23% of the patients in this group of patients on genetic criteria are no embryos suitable for transfer

17. 10 th International Congress on Preimplantation Genetic Diagnosis 5-8 May 2010, Montpellier, France

20. Prospects of development of PGD 1) Identification of mutations in the embryo of fertile couples, but with a high risk of birth of offspring with genetic disorders; 2) identification of HLA antigens embryos selection of donor leukocyte antigen identical to a sick child - brother / sister; 3) identification of a genetic predisposition to severe diseases (oncology, Alzheimer's disease and etc.); 4) The selection of embryos with specific phenotypic traits - eye color, hair, married couples, benefited from donor cells in the IVF

21. Thank you for your attention