An important step in the planning a healthy baby to identify the chromosomal future parents. This study blood in some countries as familiar as the determination of blood group and rhesus factor. The study of chromosomal analysis for two, because the child gets half of the chromosomes from mom and half from dad. Perfectly healthy people can be carriers of balanced chromosomal rearrangements, not knowing about this. But if the child will go to the junk rebuild from one of the parents, possible imbalance. In this family the risk of having a child with a chromosomal abnormality is 10-30 %. But if the change in the chromosome set of the spouses detected in time, perhaps a special screening during pregnancy, which will help to prevent the occurrence of defective offspring.
When planning a pregnancy, the couple should refrain from Smoking, drugs, alcohol for several months before conception. The most important pregnancy - the first 12 weeks, when there is a bookmark of organs of the baby. At this time, the woman should receive adequate nutrition, vitamins, have a minimum loads and stresses. It is necessary to exclude, if possible, medication, adverse factors (chemical, radiation).
During pregnancy every woman should undergo investigationsincluding up to 10 weeks for viral infections (herpes, cytomegalovirus, toxoplasmosis, rubella), ultrasound in 11-12 and 20-22 weeks, and determining the level of special proteins (alphafetoprotein, human chorionic gonadotropin) in 16-20 weeks.
Viral infections during pregnancy can lead to miscarriage or cause malformations of the fetus. One of the dangerous infections is rubella. This disease during pregnancy can cause congenital malformations: congenital heart defect, hearing loss, vision, delayed mental and physical development. When the disease rubella before 12 weeks of pregnancy, the risk level is 70 - 80 %. So you have to make a decision about abortion. Protection against rubella necessary expectant mother. If you find that the woman has no immunity to rubella (German measles) - must be vaccinated within three months prior to pregnancy. There are other infections no less dangerous for the body of the unborn child. For example, herpes, cytomegalovirus, toxoplasmosis. Screening for these infections should be carried out prior to conception and during the first weeks of pregnancy, when it is still possible to prevent their influence on the fetus.
ultrasound scanningstarting from 11 - 13 weeks pregnancy can be diagnosed some defects and to detect changes that may indicate the presence of chromosomal abnormalities of the fetus. Thus, the presence of thickening of the neck area of a fetus at 11 - 13 weeks of pregnancy in 70 % allows to detect down syndrome. To exclude a pathology of chromosomes hold a special prenatal examination (biopsy of chorionic villi in the first trimester of pregnancy).
Second ultrasound is in 20-22 weeks. In this stage of the pregnancy it is possible to identify most of the abnormalities of the face, extremities, and also to reveal the defects of the internal organs of the fetus.
Study of the level of biochemical markers (alphafetoprotein and human chorionic gonadotropin) in blood of pregnant conducted at 16-20 weeks of pregnancy. By changing the concentrations of these proteins in the mother's blood can be suspected chromosomal pathology and the number of malformations of the fetus, primarily the anterior abdominal wall and the nervous system. The level of biochemical markers can be changed when the threat of termination, toxaemia of pregnancy and other conditions. Therefore, to properly evaluate the results of biochemical tests can only be a doctor.
Some pregnant women need a special invasive methods of prenatal diagnostics such as the chorion biopsy, amniocentesis, Corrientes. Indications for invasive diagnostics are the age of the pregnant over 35 years, the presence of a child with malformations or chromosomal disorders, increased risk of a genetic disease to the fetus, the carrier of chromosomal rearrangements by one of the spouses, as well as ultrasound abnormalities and changes in the level of alphafetoprotein detected obsledovanie during pregnancy.
All invasive manipulations are carried out under ultrasound control in the hospital one day by a trained doctor. After the procedure, pregnant within four to five hours to be under the supervision of professionals. To avoid possible complications the patient prophylactically prescribed medications before and after the procedure.
Biopsy of a chorion is obtaining cells from a future placenta, is held at 8-12 weeks of pregnancy. The risk of complications (spontaneous abortion) after chorionic villus sampling is 2-3 %. The advantages of this method is the duration up to 12 weeks and the speed feedback - 2-3 days. Thus in case of pathology of the fetus, to terminate a pregnancy in the early period.
Amniocentesis aspiration of amniotic fluid at 16-24 weeks of gestation. To obtain cytogenetic analysis of amniotic fluid cells must undergo prolonged cultivation (2-3 weeks). Amniocentesis is the most secure method of prenatal diagnosis, as the percentage of complications after the use does not exceed 1%.
Highly informative invasive method is Corrientes - puncture of the umbilical cord of the fetus. Optimal execution period cordocentesis - 22-25 weeks of gestation.
Using invasive prenatal diagnosis revealed a chromosomal abnormality such as down syndrome (the presence of an extra 21st chromosome), Klinefelter's syndrome (extra X chromosome), Turner syndrome (lack of X-chromosome), as well as monogenic diseases, available prenatal diagnosis (hemophilia, phenylketonuria, muscular dystrophy Duchenne, cystic fibrosis, etc.).
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- The most favorable time for conception the end of summer - beginning of autumn. Exposure to fresh air, foods rich in vitamins, the sun, the absence of viral infections - all this has a positive effect on the birth of a strong, healthy child.
- Making a career, we must not forget that the woman is in better shape for the birth of healthy children from 18 to 35 years. If the pregnancy occurred after 35 years should undergo genetic testing.
- Not recommended closely related marriages. The closer the relationship, the higher the level of risk for future offspring serious illnesses.
- Folic acid 2 mg 2 times a day for 3 months before conception and for 3 months after pregnancy can significantly reduce the likelihood of birth defects of the brain and the anterior abdominal wall.
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