Unfortunately, no one is immune to the disaster. A child with congenital malformations can appear in any family - young, healthy, without bad habits - and in the absence of complications during pregnancy. According to statistics, in the world about 5% of children are born with congenital diseases. In Russia, approximately four thousand pregnancies are interrupted annually due to various chromosomal abnormalities and malformations of the fetus. Therefore, in the process of monitoring a pregnant woman, it is very important to reveal the deviations in fetal development as early as possible and provide the parents of the unborn child with the most complete information about the prospects of its development. The task of doctors is to identify the disease, and to terminate the pregnancy or not, the woman decides. Congenital malformations of the fetus can be divided into two groups: hereditary (inherited) and congenital (acquired during intrauterine development). In some cases, developmental defects can occur simultaneously due to hereditary factors and due to adverse external effects. Diagnosis of malformations is a difficult task.
Understand the reasons for their appearance is not always easy. Many specialists are involved in solving this problem: obstetricians, genetics, neonatologists, specialists in prenatal diagnostics.
At the basis of hereditary diseases are mutations - changes in the hereditary properties of the organism as a result of rearrangements in the structures responsible for storing and transferring hereditary information. The most frequent, compatible with life hereditary diseases are Down's disease, phenylketonuria (PKU) and hemophilia.
Down's disease is the most common chromosomal disease (one case for 700-800 births). It was first described in 1866, but only in 1959 it was proved its connection with the anomaly of a set of chromosomes. Under the influence of unclear reasons in the process of maturation of the egg in the 21st pair of chromosomes, three chromosomes are formed instead of two. In addition to characteristic physical abnormalities, people with Down's disease suffer from congenital dementia. The risk of a child with this disease increases with the age of a woman. If among 19-year-old pregnant women the sick child is born at one of 1600, among 39-year-olds - at one of 80. At risk are young women who become pregnant before the age of 16.
Phenylketonuria - a hereditary disease associated with impaired amino acid exchange of phenylalanine, is accompanied by gross deviations of mental and physical development. Occurs in one case for 2000 births. To detect this disease in the PKU it is common to examine all newborns on the fourth or fifth day of life. When confirming the diagnosis, a special diet is chosen for the child, which helps prevent the development of the disease.
Hemophilia is caused by a deficiency in certain clotting factors. It is passed from mother to sons, manifested in increased bleeding.
There is another group of malformations, which is caused by a hereditary predisposition. If parents or immediate relatives have congenital malformations, the risk of having a child with similar defects increases.
These vices include:
- congenital heart defects;
- polydactyly (the presence of unnecessary fingers on the hands or feet);
- non-covering of the upper lip and palate ("hare lip" and "wolf mouth");
- congenital dislocation and dysplasia of the hip joints, etc.
Thus, the risk group for the birth of children with congenital diseases includes:
- men and women in families of whom already there was this or that hereditary disease (even if they themselves are not sick);
- families in which there are children suffering from congenital malformations;
- Women who had previous pregnancies ended in miscarriage or stillbirth;
- spouses who are related (for example, cousins ??and second cousins);
- Women over 35 and men over 50;
- Men and women affected by teratogenic (unfavorable) factors. In all these cases, when planning pregnancy, visit a medical genetic counseling where the geneticist will determine the risk of having a child with a hereditary disease.
Diagnosis of fetal abnormalities is carried out by prenatal diagnosis methods.