Genetics and IVF: from healthy embryos to a healthy child
"From a gene to a full genome - the man and the unborn child"
Modern people plan everything. But not all plans get to become real at the appointed time. Study and career, the achievement of social and material status sometimes push away our main task in life - the appearance of offspring - to a distant position. And this task is not always performed by us in the designated time.
At present, more and more families are forced to seek help from IVF clinics. Although the development of reproductive technology allows the majority to achieve the desired result - getting pregnant, there are always fears and doubts for everyone - how healthy is the embryo and how healthy baby will the baby be.
Indeed, the risk is always there for everyone. Most of our sexual cells male and female, contain, as strange as it seems, the wrong number of chromosomes. And any such cell can give rise to the development of the embryo and then the fetus during a natural cycle or during IVF process. But depending on the severity of the abnormlities the duration of its life can be only a few hours, days or weeks, or many years. That means a pregnancy "can NOT occur", or be non-viable, or can lead to the birth of a sick child with an altered number of chromosomes. Apart from the number of chromosome abnormalities there are also intrachromosomal breakage and restructuring. New combinations of genes and mutations in them creates a separate group of problems, which in the most cases lead to serious incurable and complex pathologies in the child limiting lifetime and the reduction of its quality for the child and difficulties for all of his family members.
And although the embryos during IVF are carefully selected for the activity of their division and external characteristics, such options do not guarantee the genetic health of the fetus and child. That is why IVF usually transfer not one but two embryos - so in a case of natural death of one there is a chance of becoming pregnant.
Is it possible to prevent problems and to increase the chances? Can modern medicine help future parents confidently go through pregnancy and have healthy children?
To solve these problems reproductive technologies today are joining forces with the achievements of modern genetics.
It is this idea has led to the birth of St. Petersburg Medical Center of the new generation - Reproduction and Genetics Clinic.
It is advisable for future parents to think about the health of the future child in the planning stage and not just during pregnancy,. A physician-geneticist can help deal with the medical history of the family. On a medical-genetic consultation you can clarify your individual and family risk, the probability of a future offspring having those diseases that the parents have themselves or those that have been in any of the closest extended family. Specific genetic studies of individual genes or entire systems will be assigned if necessary. And even if the whole family history looks safe, it is important to understand that the risks to the offspring is always there. Each one of us can be, while not showing any signs be a carrier of special rearranged chromosomes, called translocation. And absolutely all of us are the owners of "bad" genes of a recessive type, which can be passed from generation to generation, and only at a certain stage when they met with a similar gene of another parent, this combination can lead to the birth of a child with a severe hereditary disease.
How to understand what risk a particular family is taking?
It is especially important to determine if there is a need to resort to reproductive treatment using donor cells.
In the Clinic of Reproduction and Genetics (NGC) all the "creators" of a child can perform genetic research of individual genes and whole genome. In the Laboratory of Genetics of NGC Clinic there is a unique molecular genetic testing panel for future parents. The task - in the first place is to protect the new members of the family from the most severe and frequent hereditary diseases that manifest themselves both during birth and later in life. This is primarily cystic fibrosis, spinal muscular atrophy, phenylketonuria, myodystrophy, neurofibromatosis, hemophilia and many others.
Any person who is responsible and worries about the health of future children can take such a test. The most useful comprehensive genetic study is carried out in tandem. After all, according to test results, in each participant different variants of genes can be found , and you can only tell how they will show themselves, only if given the genotype of the other parent. Detection of different genetic variants does not put an end to plans to build a family, it only helps to determine the best course of action, so as "not to stumble on the reefs." In difficult cases the PGD methods- preimplantation genetic diagnosis come to the aid of the parents.
Deep genetic testing is especially important if you plan to use donor cells. Many couples do not dare to resort to such a way of getting pregnant because of the fear of getting "bad genetic material." There is such a risk. And the standard survey of donors at the therapist with a minimum of common analyzes and in the best case study of karyotype does not guarantee "good genetics". The modern approach involves a comprehensive study of the donor’s genes to create a "genetic passport of the donor." Accordingly, the family may choose a donor, not only by appearance, and his achievements, but they can also have "insurance" with an absence of reasons for the development of many serious inherited genetic disease in the unborn child.
Modern training programs to a healthy pregnancy can be recommended for absolutely everybody.
But especially they acquire relevance if there was an unsuccessful pregnancy or sick children in the family.
In any case, during a medical-genetic consultation the doctor-geneticist will help you understand your history and determine a program of genetic research for you personally and for your family at the stage of planning of pregnancy as well as a fetal survey plan during pregnancy.
In the Clinic of Reproduction and Genetics Research prenatal fetus research is carried out in the most gentle way using high-tech methods. After all, we often observe a "super priced" pregnancy obtained after IVF after prolonged treatment. Therefore, we start fetal research, already at 9 weeks of pregnancy, when our "patient" has grown only upto 2.5 cm! By 11th week, our patients already know exactly that their child will never have chromosomal disorders such as Down syndrome, Edwards and Patau, changes in the number of sex chromosomes, triploidy at their unborn child. Application of testing technology of fetal DNA from the mother's blood can achieve highly accurate results without the "puncture" and interventions, that is, without invasive methods. This test is recommended during any pregnancy in any family. After all,absolutely everyone has the risks. Meanwhile the standard research evaluates indirect signs of chromosomal pathology - ultrasound and fetal proteins - does not detect all cases of disease of chromosomes in the fetus.
Therefore, a high-tech testing of fetal DNA in the mother's blood has come to the replacement of such programs and the method is becoming more and more accurate.
Genetics and Reproduction Union currently allows many couples to not just get a long-awaited pregnancy, but also to give birth to a child with a "genetic passport", allowing you to have confidence in the health of your offspring from pregnancy, to early childhood and later on in life.
Head of the Department of Clinical Genetics, a physician-geneticist