Department of ART for Infertility TreatmetResearch 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

More than 30 years of IVF in the world!

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

1. Reproductive behavior changed man;

2. changed the patients included in the program ART (patients with cancer history, patients with genetic disorders, etc.)

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

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.

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%

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%.

Mutations in the CFTR gene were detected in 14.8% of patients

Mutations The results of semen analysis

F508del ОАТ

W1282X ОАТ

2143delT ОАТ

1677delTA Astenoteratozoospermiya2184insA obstructive azoospermia

F508del и 5Т oligozoospermia

5Т ОАТ

nonobstructive azoospermiaAstenoteratozoospermiyaTeratozoospermia

5Т/5Т nonobstructive azoospermiaobstructive azoospermia

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

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.

Results of the study of chorion

Karyotype self-pregnancy induced 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

disorders8 2 3 9,6

Total anomalous 441(63%) 31(54,4%)

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;

With PGD, % Without PGD %

Р

Pregnancy rate per cycle 33.3 33.6 0.09

Pregnancy rates in embryo transfer

36.6 35.8 0.04

The frequency of implantation 31.7 22.07 0.08

The frequency of abortion I trimester

7.7 44.2 < 0.01

The frequency of abortion in the II trimester

- 7

ART in couples where the husband has patozoospermiya

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

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

10th International Congress on Preimplantation Genetic Diagnosis5-8 May 2010, Montpellier, France

Prospects of development of PGD1) 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 embryosselection of donor leukocyte antigen identical toa sick child - brother / sister;

3) identification of a genetic predisposition tosevere diseases (oncology, Alzheimer's disease andetc.);

4) The selection of embryos with specific phenotypictraits - eye color, hair, married couples, benefited from donor cells in the IVF

Zh. Glinkina.

Thank you for your attention