Annually on the planet there are about 8 million kids with genetic abnormalities. Of course, you can not think about this and hope that you will never be touched. But, for this very reason, genetic analysis is gaining popularity in pregnancy today.
You can rely on fate, but not everything is possible to predict, and it is better to try to prevent a huge tragedy in the family. Many hereditary diseases can be avoided if you undergo treatment at the planning stage of pregnancy. And all you need is to undergo preliminary consultation with a geneticist. After all, it is your DNA (yours and your husband) that determine your health and your child's hereditary traits ...
As already mentioned, it is necessary to consult this specialist at the planning stage of pregnancy. The doctor will be able to predict the health of the baby's future, determine the risk of the appearance of hereditary diseases, tell you what studies and genetic tests must be carried out to avoid hereditary pathologies.
Genetic analysis, which is carried out both during the planning period and during pregnancy, reveals the causes of miscarriage, determines the risk of congenital malformations and hereditary diseases in the fetus, under the influence of tetragonal factors before conception and during pregnancy.
Be sure to consult a geneticist if:
- expectant mother more than 35 years;
- in the family there are hereditary diseases;
- was born a child with congenital malformations;
- affected by harmful factors during conception or during pregnancy (X-ray, taking certain medications, radiation);
- during pregnancy the expectant mother was overtaken by an acute viral infection (toxoplasmosis, rubella, acute respiratory infections, influenza);
- if the woman had miscarriages or stillbirths;
- pregnant women who are at risk for biochemical analysis and ultrasound.
Genetic tests and tests that are performed during pregnancy
One of the main methods of determining violations in the development of the fetus is intrauterine examination, which is carried out with the help of ultrasound or biochemical research. With ultrasound, the fetus is scanned - this is an absolutely safe and harmless method. The first ultrasound is carried out at 10-14 weeks. Already at this time, it is possible to diagnose the chromosome pathologies of the fetus. The second planned ultrasound is carried out at 20-22 weeks, when the majority of abnormalities in the development of internal organs, face and limbs of the fetus are already determined. At 30-32 week, ultrasound helps to identify smaller defects in fetal development, the number of amniotic fluid and abnormal placenta. At terms 10-13 and 16-20 weeks, a genetic analysis of the blood during pregnancy is carried out, biochemical markers are determined. The above methods are called non-invasive. If pathology is detected in these analyzes, then invasive examination methods are prescribed.
In invasive studies, physicians "invade" the uterus cavity: they take material for research and determine the fetal karyotype with high accuracy, which makes it possible to exclude genetic pathologies like Down's syndrome, Edwards and others. Invasive methods are:
- Chorion biopsy - cells are taken from the future placenta by puncture of the anterior abdominal wall. She is held for a period of 9-12 weeks. The procedure does not last long, the result will be 3-4 days, the probability of a miscarriage - 2%. But if they detect gene pathologies, then it is possible to interrupt pregnancy in the early stages;
- amniocentesis - analysis of amniotic fluid at 16-24 weeks of gestation. This is the safest method, because the percentage of complications is no more than 1%. But the result will have to wait a long time, as specialists "grow" cells, and this process takes time;
- Cordocentesis - puncture of the umbilical cord of the fetus followed by fetal collection of blood, is carried out for a period of 20-25 weeks. This is a very accurate analysis, which is carried out for 5 days;
- placentocentesis - samples of cells from the placenta, containing cells of the fetus. The risk of complications is 3-4%.
When carrying out these procedures, the risk of complications is high, therefore genetic analysis of the pregnant and fetus is carried out according to strict medical indications. In addition to patients from the genetic risk group, these analyzes are performed by women in case of a risk of diseases,
These tests are performed only in a day hospital under the supervision of ultrasound, because a woman after their conduct should be under the supervision of specialists for several hours. She may be prescribed medication to prevent possible complications.
When using these diagnostic methods, up to 300 of 5000 genetic diseases can be detected.