The earliest diagnosis is a way to avoid disability
Is it possible to give birth to a healthy child in St. Petersburg
Vladislav Baranov, Chief geneticist of St. Petersburg, Corresponding Member of the Russian Academy of Medical Sciences, Head of the Laboratory of Prenatal Diagnostics of Hereditary and Congenital Diseases of the D.O. Ott Institute of Obstetrics and Gynecology, spoke about the possibilities of early diagnosis at the conference "Genetic testing as a social responsibility of citizens and prevention of disability".
Combined screening is an ultrasound and biochemical examination that is performed during pregnancy. Its results are entered into a special program, it calculates and reports on possible risks. Based on these data, a decision is made on the need for further (invasive) diagnostics, in which the material necessary for the study is taken and karyotyping (study of the chromosome set) is performed. "Thanks to molecular karyotyping," says Baranov, "we have increased the possibilities of diagnosing such chromosomal diseases as Down, Patau, Edwards, Turner, Klinefelter syndromes, X-chromosome polysomy."
How to conceive a healthy childIf the risks of having a child with genetic diseases in a couple are very high, then modern science and medicine allows them to avoid not only carrying, but also conceiving a sick child with the help of prenatal diagnostics.
It is used as the first stage of in vitro fertilization (IVF). When embryos are formed "in vitro" as a result of fertilization, they are examined, those that have not inherited genetic mutations are selected and then, as in conventional IVF, they are planted in a woman's uterus.
ReferenceList of clinics in St. Petersburg where IVF can be done in 2014,
and the number of cycles that the CHI foundation pays for each clinic:City clinics:
- Mariinsky Hospital – 174
- Family Planning and Reproduction Center – 127
- Women's consultation No. 44 – 127
Federal clinics:
- State Pediatric Medical University (SPbSPMU) – 10
- D.O. Ott Research Institute of Obstetrics and Gynecology – 136
- Federal Medical Research Center named after V.A. Almazov – 107
- L.G. Sokolov Clinical Hospital No.122 – 105
- National Medical and Surgical Center named after N.I. Pirogov – 136
- Kirov Military Medical Academy - 10
Private clinics:
- "AVA-PETER" – 188
- International Center for Reproductive Medicine (ICRM) – 99
- Center for Innovative Embryology and Reproductology ("Embrilife") – 177
- Euromed – 136
- "Mother and Child Saint Petersburg" – 10
- "Genesis" -10
- "ArtECO" – 10
- Aimed Medical Center – 10
- "Baltic Institute of Human Reproduction" – 10
- InAlMed – 10
Vyacheslav Baranov cited the example of Taiwan and Israel. In Taiwan, the birth of about a hundred children with the most serious disease – spinal amyotrophy of Werdnig-Hoffmann was prevented, and in Israel – the birth of children with X-linked (nonspecific) mental retardation. To do this, all couples who have a high risk of having children with these pathologies were tested, and doctors suggested that they plan the birth of a child using IVF and prenatal diagnostics.
In Russia, they cannot boast of such bright results so far. Although in the fall of 2013, at the D.O. Ott Institute, a couple who had a very high risk of having a child with Werdnig-Hoffmann syndrome (children with this syndrome die at the age of 9-10) were helped to give birth to a healthy child – for the first time in the country. Using the IVF method, thirteen embryos were obtained, of which only three turned out to be without genetic pathology, and only one was transplanted and carried out. In March 2014, the couple had a healthy child.
Spouses should be tested for the risk of having a sick child even before they have planned this child. However, Olga Romanenko, the chief physician of the Medical and Genetic Diagnostic Center of St. Petersburg, reports that of all married couples, only three percent come to be examined in order to plan the future birth of healthy children, that is, before a woman becomes pregnant.
Why do parents need a "genetic passport"Meanwhile, genetic testing in developed countries has long been not only one of the conditions for family planning, but also a way to pay attention to the risk of problems with their own health in the future.
That is, parents can use it to create their own "genetic passports", in which, based on the study, all possible risks inherent in nature and transmitted with parental genes are indicated. And thanks to this information, preventive measures can also be taken – adjusting living conditions can lead to the fact that the risk of these hereditary problems will be minimized or disappear altogether.
By the way, with the help of genetic testing, you can also find out what kind of sport is preferable for a child to do. This is especially important for those who train future athletes of the highest achievements. Vladislav Baranov believes that genetic testing of future athletes – students of Olympic reserve schools, students of sports schools is justified and even useful: "It is important not so much to find future Olympic hopes, as to identify children who are harmful and dangerous to engage in sports of the highest achievements, because Olympic sports is a sport at the limit of human capabilities."
Portal "Eternal youth" http://vechnayamolodost.ru14.10.2014