Inborn malformations

Inborn malformations of a fruit represent one of the most serious complications of pregnancy which results in child mortality and disability. The child's birth with inborn malformations quite often is the reason of disintegration of a family. Not all parents can endure similar shock and begin to accuse of each other incident.

Data of medical statistics show that in the last decades around the world the number of children with inborn malformations steadily grows. In Russia the frequency of this pathology makes 5 – 6 cases on each one thousand childbirth, in Western Europe this indicator is approximately half lower.

Reasons of inborn malformations

At a fruit of inborn malformations can lead various reasons to formation. The most often this pathology results from the genetic mutations caused by alcohol intake, drugs, influence of the ionizing radiation and other harmful factors. Inborn malformations can be also caused by various deviations in chromosomal complements of the father or mother, and also a lack of a diet of the pregnant woman of vitamins, especially folic acid.

Classification of inborn malformations

There are various criteria on the basis of which doctors build system of classification of inborn malformations. Depending on the reason inborn malformations of a fruit share on environmental (exogenous), hereditary (endogenous) and multifactor.

Development of hereditary malformations is caused by change of chromosomes or genes in gametes that is an origin in a zygote (oospore) of chromosomal, gene or genomic mutations. These mutations lead to disturbances of process of formation at a fruit of fabrics and bodies.

Exogenous inborn malformations arise under the influence of various teratogens (industrial poisons, smoking, alcohol, viruses, medicines and many other things).

Multifactor inborn malformations of a fruit call such defects which development is caused by joint influence of genetic and environmental factors.

Depending on at what stage of an embryogenesis (formation of a fruit) begin to show the action the exogenous or genetic factors forming under their influence defects of development are divided into the following types:

• Gametopathy or blastopatiya. Disturbances of development arise already at a stage of a zygote or a blastula. They have very rough character. Most often the germ perishes and there is its rejection – a misbirth. When the abortion does not come, there is not developing (stood) pregnancy.
• Embryopathy. Defects of development arise during the period from 15 days to 8 weeks of life of an embryo. Embryopathies are the most frequent reason of inborn malformations of a fruit.
• Fetopathy. Arises under the influence of adverse factors after 10 weeks of pregnancy. In this case inborn malformations usually have not rough character and are shown by emergence in the child of various functional disturbances, a delay of mental and physical development, decrease in body weight.

In addition allocate primary and secondary inborn malformations of a fruit. Primary are always caused by immediate effect of any teratogens. Secondary malformations arise as a complication primary, and at the same time are always connected with them pathogenetic.

The World Health Organization offered classification of inborn malformations by the place of their localization, i.e. on the basis of the anatomo-physiological principle. According to this classification allocate:

• Inborn malformations of a nervous system. Treat them a back of a bifid (open spinal hernia), a brain underdevelopment (hypoplasia) or its total absence (anencephalia). Inborn malformations of a nervous system are very heavy and most often lead to the death of the child during the first hours to his life or formation of resistant disability.
• Deformations of maxillofacial area – a wolf mouth, a labium leporium, an underdevelopment of the lower or upper jaw.
• Inborn malformations of extremities – their total absence (atresia) or shortening (hypoplasia).
• Inborn defects of cardiovascular system. Defects of formation of heart and large blood vessels concern to them.
• Other inborn malformations.

How to prevent the child's birth with inborn malformations?

It is necessary to approach pregnancy planning very responsibly. Treat high risk group of the birth of the sick child:

• Families in which there were already cases of the birth of children with various inborn malformations;
• Families in which the previous pregnancies came to an end with pre-natal death of a fruit, a spontaneous abortion or a still birth;
• The spouses who are in a family relation (cousin, three times removed sisters and brothers);
• If the age of the man exceeds 50 years, and women of 35 years;
• If the man or the woman are subject to influence of the listed above adverse factors on a condition of the health or professional activity.

If you treat group of high risk on the child's birth with malformations, then prior to active planning of pregnancy you should visit surely the doctor of the geneticist. The specialist will make a family tree and will calculate risk of the birth of the sick child. At very high risk to married couple usually recommend to resort to artificial fertilization of a donor ovum or insemination by sperm of the donor.

You already expect a baby and at the same time treat group of high risk? And in this case you should consult surely with the geneticist. Never make the independent decision to interrupt pregnancy when you did not know about it and accepted some medicines, studied fluorography or, for example, took alcohol. As far as, really, in similar situations the risk of emergence at a fruit of inborn malformations is high, only the doctor after carrying out necessary researches can solve.

What to do if your kid has an inborn malformation?

Any married couple at which the sick child was born and especially with inborn defects of a nervous system, tests a condition of psychological shock. To cope with it, address geneticists and find out the exact reason which led to development of pathology. The sick child surely should conduct a cytologic research. It is necessary not only for its treatment, but also for the forecast of probability of the repeated birth at these spouses of the sick kid.

Final medicogenetic consultation has to be held not earlier than in three months after the delivery. During this time psychological tension in a family usually decreases, and spouses will be able adequately to apprehend all information, necessary for them.