Congenital malformations

Congenital malformations of the fetus are one of the most serious complications of pregnancy, which is  By the formation of the fetus congenital malformations can cause a variety of reasons
 It leads to child mortality and disability. Having a baby with congenital malformations is often the cause of family breakdown. Not all parents can survive such a shock and begin to blame for what happened to each other.

Health statistics show that in recent decades throughout the world children with congenital malformations has been steadily increasing. In Russia, the incidence of this disease is 5 - 6 cases for every thousand births in Western Europe this figure about half below.

Causes of congenital malformations

By the formation of the fetus congenital malformations can cause a variety of reasons. Most often, this pathology is the result of genetic mutations caused by alcohol, drugs, exposure to ionizing radiation and other harmful factors. Congenital malformations can also be caused by different sets of chromosomal abnormalities in the mother or father, as well as the lack in the diet of pregnant women vitamins, especially folic acid.

Classification of congenital malformations

There are various criteria by which doctors are building a system of classification of congenital malformations. Depending on the cause of congenital fetal malformations are divided to environmental (exogenous), hereditary (endogenous) and multifactorial.

The development of hereditary defects due to a change of chromosomes or genes in the gametes that is the cause in the zygote (fertilized egg) chromosomal, genetic or genomic mutations. These mutations lead to violations of the formation of the fetus tissues and organs.

Exogenous birth defects occur due to various teratogenic factors (industrial poisons, smoking, alcohol, viruses, medicines and much more).

Multifactorial birth defects called fetal development defects such development is due to the combined influence of genetic and environmental factors.

Depending on what stage of embryogenesis (formation of the fetus) are beginning to show their effects, or exogenous genetic factors, formed under the influence of defects in development are divided into the following types:

  • Gametopatiya or blastopatiya. Developmental disorders occur at the stage of the zygote or blastula. They are very rough character. In most cases the fetus dies and is its rejection - miscarriage. In cases where the miscarriage does not occur, there is not developing (non-viable) pregnancy.
  • Embriopaty. Developmental defects occur during the period from 15 days and up to 8 weeks of life of the embryo. Embriopaty are the most common cause of congenital malformations of the fetus.
  • Fetopathy. It arises under the influence of adverse factors after 10 weeks of pregnancy. In this case, congenital malformations are usually not rude character and appearance of the baby manifested different functional disorders, delayed mental and physical development, weight loss.

In addition, allocate primary and secondary congenital malformations of the fetus. Initial always caused by direct exposure to any teratogens. Secondary malformations also occur as a complication of primary, and thus always linked to their pathogenesis.

World  Congenital malformations occur under different teratogens
 Health Organization proposed a classification of congenital malformations in their place of localization, ie on the basis of anatomical and physiological principles. In accordance with this classification allocate:

  • Congenital malformations of the nervous system. These include spina bifida (open spinal hernia), underdevelopment of the brain (hypoplasia) or its absence (anencephaly). Congenital malformations of the nervous system are very serious and often lead to the death of a child in the first hours of his life, or the formation of persistent disability.
  • Deformation of the maxillofacial region - cleft palate, cleft lip, hypoplasia of the mandible or maxilla.
  • Congenital malformations of the limbs - their complete absence (atresia) or shortening (hypoplasia).
  • Congenital malformations of the cardiovascular system. These include the formation of defects of the heart and major blood vessels.
  • Other congenital malformations.

How to prevent the birth of a child with birth defects?

Approach to planning pregnancy should be very responsible. For high-risk birth of a sick child are:

  • Families that have already been cases of birth of children with various congenital malformations;
  • Families with a previous pregnancy ended in intrauterine fetal death, miscarriage or stillbirth;
  • Spouses who are in kinship (cousins, second cousins, brothers and sisters);
  • If a man's age exceeds 50 years, and women 35 years of age;
  • If a man or a woman exposed to the above-mentioned negative factors as your health or occupation.

If you are at high risk for the birth of a child with developmental disabilities, the active planning before pregnancy, you should definitely see a doctor genetics. The specialist will pedigree and calculate the risk of having a sick child. At very high risk for couples is usually recommended to resort to artificial insemination of donor eggs or donor sperm insemination.

You are already expecting a baby and thus are at high risk? In this case, you should always consult with a geneticist. Never take an independent decision to terminate a pregnancy in cases where you do not know about it and take certain medicines, or chest X-rays were, for example, drinking alcohol. How, in fact, in these situations, high risk of fetus malformations, the doctor can only decide after conducting the necessary research.

What to do if your baby has a congenital malformation?

Any couple who has a sick child was born, and especially with congenital nervous system was in a state of psychological shock. To cope with it, refer to the Genetics and find out the exact reasons that led to the development of pathology. A sick child should be required to carry out cytology. This is necessary not only for its treatment, but also to forecast the probability of re-birth of the spouses in these patient baby.

Final genetic consultation should be carried out not earlier than three months after childbirth. During this time the psychological tension in the family is usually reduced, and the couple will be able to deal adequately with all the necessary information for them.





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