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Congenital malformations: causes and prevention




In a difficult demographic situation, the problem of preserving human life in Bukovina is becoming increasingly important, especially when it comes to the life of a newborn child. Environmental pollution and aggravation of unfavorable environmental situation, failure to maintain a healthy lifestyle, unbalanced diet, deteriorating material conditions of the population, the burden of accumulated genetic defects negatively affect the gene pool. The birth of a sick child is always associated with severe moral and material damage to the family and society. A healthy child is not only a gift of nature, but also a great happiness for parents, because good health is an essential condition for a prosperous and full life. Therefore, the care of the child's health should begin long before his birth. It is necessary to understand that a person's life does not begin after his birth, and from the moment of fertilization. The fetus must be perceived as a person who feels and, unfortunately, is sick. With the help of modern methods it is possible to diagnose the condition of the fetus, provide the necessary assistance in utero, to carry out effective prevention of postpartum complications. Modern genetic research shows that the development of many birth defects can be prevented and the fate of affected children can be improved.

Structural disorders that occur before the birth of a child and are detected immediately or shortly after birth and cause organ dysfunction - are congenital malformations. They occupy a prominent place in the structure of causes of disability and mortality in young children. The most difficult to predict are multiple congenital malformations, congenital malformations of the central nervous system, congenital malformations of the heart, gastrointestinal tract and kidneys.

Depending on the stage at which the genetic or exogenous action is manifested, all disorders that occur in ontogenesis are divided into gametopathy, blastopathy, embryopathy and fetopathy. Significant developmental disorders at the zygote or blastula stage lead to embryonic death. Embryopathies that occur in the period from fifteen to 75 days are the cause of congenital malformations. Fetopathies (occurring from the 76th day) are pathological conditions that are not characterized by significant morphological disorders, but there are deviations from the general development in the form of weight loss, intellectual retardation, various functional disorders.

The birth of children with congenital pathology occurs under the influence of teratogenic factors, environmental factors that affect the fetal period of development of the unborn child, as well as associated with distant ancestors - family members of other generations, called hereditary diseases that affect health 'I am a man. Thus, depending on the cause, all congenital malformations are divided into hereditary, exogenous, multifactorial.

Hereditary are defects that occur due to damage to the germ cells of the parents, which are manifested by chromosomal and gene mutations. Hereditary diseases are heterogeneous in nature and are divided into gene and chromosomal depending on where the mutation occurred - in the genes or in the chromosomes of somatic or germ cells. If the mutation occurred in somatic cells, the changes that occurred in them are not transmitted from parents to children, ie not inherited. From generation to generation are transmitted only changes that occur as a result of mutations in the germ cells of the parents.

Often mutations are caused by the action of the environment - ionizing radiation, various chemicals used in industry and agriculture (pesticides, herbicides), in the food industry (food additives, preservatives), in medicine (drugs, viral infections). A mutation can contribute to the underdevelopment or appearance of an abnormal trait that did not exist before.

The dependence of the frequency of mutations on the age of the parents is proved. As the age of parents increases, the frequency of births of children with OCD increases. Thus, mothers aged 45-50 years, children with various congenital diseases are born 3 times more often than mothers under 28 years. The optimal childbearing age is from 20 to 30 years. Parents over the age of 35 are at risk and must undergo a comprehensive examination and training to give birth to a healthy baby. Therefore, to avoid various congenital malformations in children, it is better to give birth to children at a young age.

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The health of future generations is determined by the health of parents. There is no doubt that a large number of diseases of the mother can have an adverse effect on the fetal development of the child. It has been established that such chronic diseases of the mother as rheumatism, heart disease, hypertension, hypotension, vascular neurosis, diabetes, anemia, lung and kidney disease, gynecological diseases, toxicosis of pregnancy and others, cause complex changes in the pregnant woman that cause negative influence on fetal development and promote the birth of a premature baby or a child with congenital malnutrition. Delayed fetal development is associated with disorders of uteroplacental circulation, impaired gas exchange. The fetus is most sensitive to various adverse stimuli, mainly in the first 3 months. pregnancy. Slowing of blood circulation in the fetus,

Exogenous are defects that occur under the influence of teratogenic factors (alcohol, drugs, tobacco smoke, industrial poisons, drugs, food additives, viruses, etc.), ie environmental factors that affect embryogenesis and disrupt the development of tissues and organs. Organs are very sensitive to harmful effects during the period of the greatest number of cell divisions and rapid differentiation (for the human embryo the critical period is from the 15th to the 60th day of embryonic development, but it should be noted that each organ has its most sensitive period when the largest disorders of morphogenesis). The mechanism of congenital malformations under the influence of exogenous factors is the same as with genetic ones. As a result, the manifestations of genetic and exogenous defects are very similar and are called phenocopies.

Medicines also play a role. There are no drugs that can be considered completely safe, especially in early pregnancy. During pregnancy, medication should be taken only with a doctor's prescription and taking into account their possible effects on the fetus. It should be remembered that the fetus is good when the mother is good.

The use of alcohol by pregnant women in large doses can lead to the development of fetal (fetal) alcohol syndrome - a congenital disease that is accompanied by numerous malformations, which are sometimes incompatible with life. If you are concerned about the risk of "drunken conception", be sure to consult a doctor.




Smoking a large number of cigarettes during pregnancy leads to a delay in the child's physical development.

Plays the role and effects of toxic chemicals. These can be chemical factors that can accumulate in a woman's body and penetrate the placenta, physical factors (vibration, computer electromagnetic field), radiation exposure. In some cases, it is necessary to fully or temporarily transfer a woman from harmful working conditions. Women who are exposed to active chemicals by nature should plan for pregnancy. 2-3 months before conception and the entire period of pregnancy (especially in the period up to 14-16 weeks), it is desirable to exclude contact with chemical factors that can cause teratogenic effects in the fetus.

It is impossible to exclude from among the factors influencing formation of a fruit, quality of food of the pregnant woman. This effect is mainly due to micronutrient deficiencies. The most fully studied deficiency of zinc, magnesium, copper. It is important that the diet is balanced in micronutrients, vitamins and proteins. Daily use of folic acid or multivitamins, which contain 0.8 mg of it, in the period before conception and in the first months of pregnancy significantly reduces the risk of giving birth to children with defects of the brain, spinal cord and other malformations.

Defects that develop under the influence of both genetic and exogenous factors are multifactorial.

Factors that cause teratogenic infections (infectious diseases transmitted from mother to fetus) include viral diseases (rubella, cytomegalovirus, herpes simplex, influenza, mumps, chickenpox). A special group is occupied by sexually transmitted infections - toxoplasmosis, syphilis, chlamydia, ureaplasmosis. The term of infection is essential.

Intrauterine infectious diseases of children occur when germs or viruses from the body of a sick mother enter the fetus, there is an intrauterine infection. It is known that approximately 90% of infant diseases are associated with fetal lesions, the effects of which appear only after birth. Defeat of an embryo by an infection leads either to its death, or to emergence of malformations of one or several bodies. If the fetus is infected at a later stage of pregnancy (after 29 weeks), it either dies, or is born with defects, or the disease manifests itself in the first days after birth. In the first 7 weeks of pregnancy give the probability of developing malformations in 50-60% of newborns, during the 3rd month - in 15%, after the 4th month - in 1.1% of cases.

The ways of infection from mother to fetus are different: through the placenta; during childbirth, by inhalation or ingestion of infected mucus of the birth canal or amniotic fluid.

Among the causative agents of intrauterine infection in all countries of the world is widespread Toxoplasma, which belongs to the simplest microorganisms. In our country, toxoplasmosis, which is characterized by a chronic course and lifelong preservation of the parasite in various organs and tissues, infects about 25% of the adult population. Persistent forms of Toxoplasma are released into the environment only by a domestic cat. Particularly dangerous are stray cats, which pollute the ground, sandboxes for children and toxoplasma enters the body through contaminated hands. Quite often the infection occurs through food (meat of sick farm animals and birds), when you try raw minced meat or eat meat dishes without sufficient heat treatment. Infection is also possible with the use of raw chicken and goose eggs. It is known that Toxoplasma is able to penetrate the fetus through the placenta, mainly in the second half of pregnancy. However, clinical signs of intrauterine toxoplasmosis infection may appear months and years later. In some cases, children are born with symptoms of inflammation of the brain, convulsions, strabismus, involuntary tremor of the eyeballs, paralysis and paresis (incomplete paralysis), damage to the liver, spleen, intestines and more. Possible development of congenital malformations - cerebral hernias, heart defects, etc. In such cases, children lag behind in mental development. However, only 0.5% of infected women give birth to children with congenital toxoplasmosis, which is believed to depend on the form and severity of the disease in the pregnant woman. In some cases, children are born with patients with signs of inflammation of the brain, convulsions, strabismus, involuntary tremor of the eyeballs, paralysis and paresis (incomplete paralysis), damage to the liver, spleen, intestines and more. Possible development of congenital malformations - cerebral hernias, heart defects, etc. In such cases, children lag behind in mental development. However, only 0.5% of infected women give birth to children with congenital toxoplasmosis, which is believed to depend on the form and severity of the disease in the pregnant woman. In some cases, children are born with patients with signs of inflammation of the brain, convulsions, strabismus, involuntary tremor of the eyeballs, paralysis and paresis (incomplete paralysis), damage to the liver, spleen, intestines and more. Possible development of congenital malformations - cerebral hernias, heart defects, etc. In such cases, children lag behind in mental development. However, only 0.5% of infected women give birth to children with congenital toxoplasmosis, which is believed to depend on the form and severity of the disease in the pregnant woman.

Intrauterine infection and the development of congenital listeriosis in children, which is caused by Escherichia coli, is also possible. Infection occurs during pregnancy when a woman comes in contact with sick animals, especially rodents, or when eating contaminated food and water. Often listeriosis has an inconspicuous course, with damage only to the genitourinary system. The disease manifests itself from the first days after birth and has a course similar to jaundice, inflammation of the meninges (meningitis), skin rashes. Do not come into contact with pets during pregnancy. Women caring for farm animals are transferred to another job during pregnancy. It is forbidden to try raw minced meat (especially pork), to get indoor ornamental birds, pigeons (you can also get infected with ornithosis), to drink raw milk, especially goat's milk.

Intrauterine infectious diseases of children include mycoplasma infection, the causative agent of which is mycoplasma, which occupies an intermediate position between viruses and bacteria. By infecting the fetus in utero, mycoplasma can cause premature births. Infection of the fetus occurs from a pregnant woman with SARS or inflammatory diseases of the genitourinary system. Mycoplasma infection in utero affects all internal organs and the central nervous system of the fetus. In infants, mycoplasma infection is more likely to be of the type of pneumonia.

With intrauterine infection with syphilis, the fetus is infected only by the sick mother. When infected in the first months of pregnancy there is a miscarriage, at a later stage of infection the child is born prematurely with signs of congenital syphilis: the skin is dense, covered with blisters with transparent or bloody contents, which burst, crusts are formed in their place; the spleen and liver are affected.

Intrauterine disease of the fetus may also be associated with pathogenic bacteria such as streptococci, staphylococci and Escherichia coli, which cause purulent-septic diseases that develop in the presence of acute or chronic foci of infection in pregnant women - tonsillitis (tonsillitis), gallbladder ( cholecystitis), urinary system (pyelonephritis, cystitis) or external genitalia of women (vulvovaginitis).

Intrauterine infection of the fetus with staphylococcus is rare, more often children are infected in the first days after birth. Intrauterine staphylococcal infection usually leads to fetal death; if children are born alive, they will soon die due to the general infection of the body with putrefactive microbes (sepsis). To prevent purulent-septic diseases, a pregnant woman should first follow the rules of personal hygiene. In order to develop immunity of pregnant women and infants to staphylococcal infection, staphylococcal toxoid vaccinations are carried out - at 32-34 weeks, at 36-38 weeks of pregnancy and at the maternity hospital. These vaccinations are completely harmless for both the mother and the unborn child.

Intrauterine candidiasis is possible in the case of an inflammatory process in the female genitals caused by yeast-like fungi. Babies are born either with various injuries or with signs of congenital candidiasis (skin rashes, pneumonia). In some cases, children are born prematurely or stillborn. Yeast-like fungi of the genus Candida are harmless inhabitants of the skin and mucous membranes of healthy people and children, but under certain conditions (reduced body resistance, improper use of antibiotics, etc.) they can acquire pathogenic properties, multiply and cause acute and chronic diseases of various organs and systems - skin , mucous membranes, lungs, intestines, genitourinary system.

Viral infections are dangerous. Viruses of rubella, herpes simplex, cytomegalovirus, infectious hepatitis and mumps, influenza, parainfluenza, enteroviruses, causing diseases in early pregnancy, even in mild form can infect the fetus and fetus. As a result, various complications develop - miscarriage, premature or stillborn children are born. Such viral infections in the mother - as rubella, influenza, viral hepatitis, polio, disrupt the tissue metabolism of the developing embryo, stop cell growth; as a result there is a defect of the corresponding body and children are born with injuries. If a woman in the first 2-3 months. pregnancy relapsed into rubella, the baby may develop cataracts (clouding of the lens of the eye), deafness, congenital heart disease, damage to the central nervous system (microcephaly - a small skull,

Many countries around the world (USA, UK, Italy, Germany) and in our country are vaccinated against rubella in girls aged 10-15 years, because this virus is closely linked to the birth of children with malformations - congenital rubella syndrome (congenital cataracts of the eyes, congenital neurosensory deafness, congenital heart disease). In this regard, the pregnant woman should avoid unnecessary contact, less to be in crowded places, especially during epidemic and sporadic outbreaks. In case of an infectious disease in the family of a pregnant woman, a gauze mask should be used, and it is better to isolate the patient. It should be noted that the fetus is not always affected and not in every infectious disease of the pregnant woman, because both the pregnant woman and the fetus have natural anti-infective factors.

A married couple who is preparing for the birth of a child must first undergo a medical examination, to carry out preventive treatment of all chronic diseases. During pregnancy, you should carefully monitor your health, avoid contact with infectious patients.

In the Chernivtsi region, on the basis of the Regional Medical Diagnostic Center, there is an Antenatal Center for Fetal Protection and Medical Genetics, where parents can get advice on the health of the unborn child and the likelihood of a congenital disease or OCD. Such an examination is especially necessary if the family already had a hereditary disease or the parents were exposed to any particularly harmful factors. In all the above cases, partners who are planning a pregnancy should undergo medical and genetic counseling in the Fetal Antenatal Center and medical and genetic counseling. Geneticists will compile a pedigree and determine the risk of giving birth to a child with a hereditary disease.

You can prevent the appearance of a child with congenital malformations by planning a pregnancy. The first stage is medical and genetic counseling before pregnancy. The second stage - 2-3 months before conception, the husband and wife are prescribed a complex of trace elements with a mandatory content of folic acid, a balanced diet, enriched with foods high in folic acid for 2-3 months. Folic acid in combination with B vitamins promotes normal fetal development.

The pregnant woman must be registered in time at the women's clinic at the place of residence, where during pregnancy she will be under the supervision of doctors, including geneticists.

More information on the prevention of congenital malformations can be found at http://ibis-birthdefects.org/cms2/index.php/en/about-omni-net - International Charitable Foundation "OMNI-Network for Children", Department of Pediatrics and medical genetics of Bukovynian State Medical University and the regional center of antenatal care of the fetus and medical genetics on the basis of the Chernivtsi regional medical diagnostic center. https://d7uem317sl2.typeform.com/to/PINEyv30
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