Congenital malformations may occur in utero - this is not necessarily hereditary diseases. Very often, fetal mutations occur for the first time. Affect this can electromagnetic radiation, chemicals (herbicides, arsenic, benzene), taking medicines and transferred a virus disease (rubella, influenza).
The consultation with a geneticist is usually directed, in such cases:
- The couple goes to the genetics of their own free will at the planning stage of conception of the child. A geneticist can predict the state of health of a future child, given the likelihood of a hereditary or non-hereditary disease. The doctor will make a pedigree, determine the risk group for hereditary diseases, advise what tests and studies need to be conducted to avoid genetic pathology. If the family of future parents has relatives with genetic diseases or couples have miscarriages, they all the more have to turn to genetics. He also tells you whether the problems are related to conception, miscarriages and breeding with genetics. As a rule, 5 pairs out of 100 can not do without the advice and help of a geneticist for medical reasons.
- If a pregnant woman or her family has been ill or has hereditary diseases.
- If the previous baby was born with malformations or a chromosomal pathology up to 9 months.
- When a woman enters an age at risk: gives birth to a child after 35.
- Use of pregnant medicines, alcohol or drugs before the 3rd month of pregnancy.
- The basis for visiting a geneticist may be the results of ultrasound and biochemical studies. For example, if ultrasound revealed obvious physical abnormalities, and when biochemical - outside the norm level of protein, alfa-fetoprotein and chorionic gonadotropin.
- When a woman has endocrine disruptions or during pregnancy she has suffered viral infections that can lead to miscarriage or cause developmental fetal malformations. One of the most dangerous - rubella, herpes, cytomegalovirus, toxoplasmosis.
Not bad when planning a pregnancy, if the consultation goes and the future father of the child. The andrologist examines his spermogram. If there are violations of spermatogenesis, a cytogenetic study is appointed, during which the chromosome set is examined.
Genetic studies before conception
The geneticist will collect data on the health of the spouses and will inspect them. He will also carefully examine the pedigree, the genealogical tree with the description of kinship ties, the state of health of relatives. At the same time he will ask about their age and diseases, the causes of death and the age of death. The geneticist will interview, questionnaires. As a rule, begins with the grandmother and grandfather on the maternal line. The specialist will take into account all infertile marriages, miscarriages, abortions.
If desired, you can go through an investigation of the chromosome set of future parents. They will take blood, allocate lymphocytes from it, stimulate them in a test tube, so that they begin to divide, process with a special substance, it will stop the process of cell division precisely at the stage when chromosomes are visible. The geneticist examines 11-13 cells under the microscope for changes in the chromosome set.
Genetic tests during pregnancy
During pregnancy, one of the main methods of detecting disorders in the development of intrauterine examination - it is performed by ultrasound-biochemical studies. With ultrasound, the fetus is scanned, this method is absolutely harmless and safe. When conducting biochemical studies - the pregnant woman takes blood, determine biochemical markers. The above manipulations are called non-invasive methods. Invasive, in contrast to the above, suggest a medical "intrusion" into the uterine cavity: in this way, experts take the material for examination in order to determine the fetal karyotype most accurately. These are methods, as a biopsy of the chorion, amniocentesis, placentocentesis and cordocentesis. The collection of cells is carried out from the placenta, amniotic fluid, blood from the umbilical cord of the fetus. This is a dangerous method of research, therefore, it is carried out only under strict medical conditions. For example, if the mother is a carrier of the hemophilia gene, and the sex of the unborn child is male. Invasive methods of research are carried out only under ultrasound control and in a day hospital, since after them a woman should remain under medical control for another couple of hours.
Collection of cells from the placenta - a biopsy of the chorion. It is carried out at 9-12 weeks. Puncture the anterior abdominal wall. The procedure is not long, the result is ready for 3-4 days. The probability of miscarriage after the procedure is 2%. But when revealing gene pathologies, it is possible to interrupt pregnancy in the early stages.
Taking amniotic fluid - amniocentesis - is performed for 16-24 weeks. This is the safest of the invasive methods. The percentage of complications after it is 1%. But the result will have to wait a very long time, because experts will "grow" cells, and this will take time.
Puncture of the umbilical cord of the fetus, fetal cord blood sampling - cordocentesis - is carried out at late dates: 22-25 weeks. A very accurate method of investigation, the analysis period is up to 5 days.
Non-invasive methods are performed for all pregnant women, but for invasive, strong indications are needed.
Prevention of gene diseases
It is strange, but it is possible to prevent genes. Of course, first of all it is worth thinking about this before conception. Both spouses should undergo a course of therapy, take vitamins, quit smoking, give up alcohol and minimize contact with harmful substances. And those who have hereditary pathologies in families must undergo DNA testing. In vitamins, which the couple takes a couple of months before conception, they should contain folic acid (up to 0, 4-1 mg per day), ascorbic acid, a-tocopherol, B vitamins. On the threshold of conception to spouses it is worth thinking about proper nutrition. There are herbs, legumes, liver. This will benefit both the parents' organisms and the future baby.
And do not forget - strict compliance with your doctor's prescriptions, timely research, diagnosis and testing will minimize the likelihood of genital diseases. But if this happened, remember, in our time medicine is able to perform miracles.