What is fetal congenital malformation: diagnosis, causes. Treatment of congenital malformations of the fetus. Congenital pathologies and their varieties

Congenital malformations of the fetus (CMF) are perhaps the most dangerous complication of pregnancy, leading to childhood disability and mortality.

The birth of a child with congenital developmental defects is always a big trauma for any parent. The statistics in this regard are not comforting: in Russia, the incidence of congenital malformations reaches 5-6 cases per 1000 children.

1. Hereditary

Hereditary diseases are the result of gene mutations. Mutation is a change in the hereditary properties of an organism due to rearrangements in structures that are responsible for the storage and transmission of genetic information. These include Down syndrome, Patau syndrome, and others.

2. Congenital

Congenital anomalies are diseases acquired in the womb due to the influence of external factors (and trace elements, trauma during pregnancy, etc.). They can affect almost any organ. Congenital malformations of the fetus include heart defects, underdevelopment of the brain, maxillofacial deformities, etc.

3. Multifactorial (combined factor)

The division of fetal anomalies into species is rather arbitrary, because in the overwhelming majority of cases, developmental delays are a combination of hereditary and congenital factors.

Classification of fetal malformations

The most common fetal malformations are:

• Aplasia (absence of any organ);
• Dystopia (the location of the organ in an uncharacteristic place for it);
• Ectopia (displacement of an organ outward or into an adjacent body cavity);
• Hypotrophy, hypoplasia (decrease in fetal body weight, underdevelopment);
• Hypertrophy, hyperplasia (an increase in the size of an organ);
• Atresia (clogging of natural holes);
• Fusion of paired organs;
• Stenosis (narrowing of the canals and openings of the fetal organs);
• Gigantism (an increase in the body and internal organs of the fetus in size);
• Dyschrony (acceleration or inhibition of the development of processes).

I would like to note that the severity of pathologies can be completely different. It depends on the location of the genetic breakdown, as well as on the duration and intensity of the toxic effect on the fetus. There is no clear relationship between them.

A woman who has been toxic during pregnancy can give birth to an absolutely healthy baby. At the same time, the risk of a developmental delay in the future offspring of this fetus remains, as a result of genetic breakdown with the absence of clinical manifestations.

Causes of fetal malformations

The issue of studying pathologies of fetal development is very diverse. This topic is dealt with by specialists of different levels and directions - genetics, embryologists, neonatologists, specialists in prenatal diagnostics.

It is sometimes not so easy to understand the causes of VLOOKUP. Deviations in the set of chromosomes of one or both parents lead to the birth of a child with diseases such as Down syndrome, Patau syndrome, Edwards syndrome, hemophilia, color blindness, etc.

The cause of hereditary pathologies is a gene mutation. Various adverse effects on the organs of the fetus during pregnancy, especially during critical periods of its development, lead to the appearance of congenital anomalies. The factors that cause CM are called teratogenic.

The most studied teratogenic factors:

• medication (taking drugs prohibited during pregnancy or during a certain period of pregnancy);
• infectious (measles, chickenpox, transmitted from mother to fetus);
• ionizing radiation (X-rays, radioactive radiation);
• alcohol factor (the intake of a large amount of alcohol by a pregnant woman can lead to severe alcohol syndrome in the fetus, incompatible with life);
• nicotine factor (smoking during pregnancy can provoke a delay in the development of the child);
• toxic and chemical (women working in hazardous industries, a few months before pregnancy and for its entire period, should exclude contact with aggressive chemical and toxic substances in order to avoid the appearance of a teratogenic effect in the fetus);
• lack of vitamins and microelements (lack of folic acid and omega-3 polyunsaturated acids, proteins, iodine, lack of a balanced diet can lead to a delay in fetal development, disruption of the brain).

Often, hereditary predisposition plays an important role in the appearance of fetal congenital malformations. If the parents or close relatives of the child have had congenital malformations, then the risk of giving birth to a child with the same defects increases many times.

Critical periods of fetal development

Intrauterine development of the fetus lasts an average of 38-42 weeks. All this time, the fetus is well protected from external factors by the placental barrier and the mother's immune system. But there are 3 critical periods in which he is very vulnerable to harmful agents. Therefore, at this time, a pregnant woman should especially take care of herself.

The first critical period occurs approximately 7-8 days after fertilization, when the embryo passes the stage of implantation into the uterus. The next dangerous period is from 3 to 7 and from 9 to 12 weeks of pregnancy, when the placenta is formed. Disease, chemical or radiation exposure to a pregnant woman during these periods can lead to intrauterine fetal malformations.

The third critical period of pregnancy is weeks 18-22, when the neural connections of the brain are laid and the hematopoietic system begins to work. A delay in the mental development of the fetus is associated with this period.

Risk factors for fetal anomalies

Risk factors for congenital malformation on the part of the mother:

• age over 35 years - intrauterine growth retardation, genetic disorders;
• age up to 16 years - prematurity, lack of vitamins and minerals;
• low social status - infections, fetal hypoxia, prematurity, intrauterine growth retardation;
• lack of folic acid - congenital malformations of the nervous system;
• alcohol, drugs and smoking - intrauterine growth retardation, sudden death syndrome, fetal alcohol syndrome;
• infections (chickenpox, rubella, herpetic infections, toxoplasmosis) - congenital malformations, intrauterine growth retardation, pneumonia, encephalopathy;
• arterial hypertension - intrauterine growth retardation, asphyxia;
• polyhydramnios - congenital malformations of the central nervous system, pathology of the gastrointestinal tract and kidneys;
• diseases of the thyroid gland - hypothyroidism, thyrotoxicosis, goiter;
• kidney disease - intrauterine growth retardation, nephropathy, stillbirth;
• diseases of the lungs and heart - congenital heart defects, intrauterine growth retardation, prematurity;
• anemia - intrauterine growth retardation, stillbirth;
• bleeding - anemia, prematurity, stillbirth

Risk factors for congenital malformations from the fetus:

• fetal presentation anomalies - hemorrhage, congenital malformations, trauma;
• multiple pregnancy - fetofetal transfusion, asphyxia, prematurity;
• intrauterine growth retardation - stillbirth, congenital malformations, asphyxia,
  Risk factors during delivery:
• premature birth - fraught with the development of asphyxia;
• late labor (delay in labor for 2 weeks or more) - development of asphyxia or stillbirth is possible;
• long labor - asphyxia, stillbirth;
• prolapse of the umbilical cord - asphyxia.

Placental anomalies:

• small placenta - intrauterine growth retardation;
• large placenta - the development of dropsy of the fetus, heart failure;
• premature placental abruption - possible large blood loss, development of anemia;
• placenta previa is fraught with blood loss and the development of anemia.

Diagnosis of fetal malformations

Prenatal diagnosis of fetal anomalies and genetic pathologies is a very complex process. One of the stages of this diagnosis is screening examinations assigned to a pregnant woman at 10-12, 20-22 and 30-32 weeks (in each trimester). This test is a blood test for biochemical serum markers of chromosomal pathology (malformations).

This will make it possible to obtain an assumption about the presence or absence of chromosomal abnormalities in the fetus, and an ultrasound scan as an additional diagnostic method will show whether there are abnormalities in the physical development of the fetus. Ultrasound should be performed by a highly qualified specialist and on high-quality equipment. The results of each study are evaluated jointly, without breaking with each other.

Screening does not guarantee one hundred percent pathology, it only allows you to identify a high-risk group among pregnant women. This is an important and necessary measure and, despite the voluntary nature, most expectant mothers understand this. There are frequent cases when specialists find it difficult to answer the question of the presence of genetic defects in the fetus. Then, depending on the trimester of pregnancy, the patient is assigned invasive research methods:

• (study of chorionic villi)

It is done in the 1st trimester of pregnancy (11-12 weeks) and allows you to identify genetic abnormalities in the development of the fetus.

• amniocentesis (examination of the anatomical fluid in which the fetus is located)

In the 1st trimester, this analysis reveals hyperplasia of the adrenal cortex, in the 2nd trimester - diseases of the central nervous system, chromosomal pathologies.

• placentocentesis (examination of placenta particles)

Performed from 12 to 22 weeks of pregnancy to identify genetic pathologies.

• (taking blood from the umbilical cord of the fetus)

Allows you to identify the susceptibility of the fetus to genetic or infectious diseases.

Pregnant women are referred to a mandatory consultation with genetics:

• whose age is over 35 years old;
• have a child or children with genetic disabilities;
• had a history of miscarriages, undeveloped pregnancy, stillbirth;
• in the family of which there are relatives with Down syndrome and other chromosomal abnormalities;
• recovered from viral diseases in the 1st trimester of pregnancy;
• taking drugs prohibited during pregnancy;
• exposed to radiation.

To diagnose fetal pathologies after birth, they are used the following research methods: analyzes of blood, urine and other biological fluids, X-rays, computed and magnetic resonance imaging, ultrasound, angiography, broncho and gastroscopy, other immune and molecular methods ...

Indications for termination of pregnancy

Any detection of congenital malformations of the fetus implies a proposal to terminate the pregnancy for so-called medical reasons. If a woman refuses to do this and decides to leave the child, she is taken under special control and the pregnancy is monitored more closely.

But the expectant mother should understand that not only her feelings and experiences are important here, but also the fact that children born with serious defects and pathologies often turn out to be unviable or remain deeply disabled for life, which, of course, is very difficult for any family.

There are other indications for termination of pregnancy:

• malignant neoplasms (pregnancy with cancer is contraindicated);
• diseases of the cardiovascular system (heart defects, deep vein thrombosis, thromboembolism);
• neurological diseases (multiple sclerosis, myasthenia gravis);
• infectious diseases (in active form, in acute and severe stages,);
• diseases of the blood and blood-forming organs (hemoglobinopathy, aplastic anemia, leukemia);
• eye diseases (diseases of the optic nerve and retina);
• kidney disease (acute urolithiasis and with large calculi, acute);
• diffuse connective tissue diseases;
• endocrine disorders (, thyrotoxicosis, uncompensated hypothyroidism in severe forms);
• some gynecological diseases;
• obstetric indications (refractory to therapy and strong, accompanied by severe vomiting, gestational trophoblastic disease, severe hereditary diseases identified during pregnancy, etc.)

Abortion for medical reasons is carried out only with the consent of the patient.

Prevention of congenital malformations of the fetus

The main activity aimed at preventing the appearance of congenital malformations of the fetus is pregnancy planning. Quality preparation may affect not only the success of conception, but also the process of gestation, quick and correct delivery and the health of the mother and child in the future.

Before planning a pregnancy, it is necessary to undergo a number of examinations: pass tests for (STD), HIV, hepatitis, syphilis, check blood clotting, hormonal status, oral cavity sanitation, do ultrasound of the pelvic organs to exclude inflammatory diseases and neoplasms, visit a therapist to identify all possible chronic diseases, ideally genetic testing for both parents.

The key point in the prevention of congenital fetal anomalies is maintaining a healthy lifestyle, giving up bad habits, balanced and nutritious nutrition, excluding any negative and harmful factors affecting your body. During pregnancy, it is important to timely treat all possible diseases and follow the instructions of the obstetrician-gynecologist.

Treatment of congenital malformations of the fetus

Treatments for congenital malformations of the fetus vary greatly depending on the nature and severity of the anomaly. Unfortunately, the statistics on this issue are not encouraging. A quarter of children with congenital anomalies die within the first year of life.

The birth of a child with congenital developmental defects always overwhelms the family; this topic is one of the most difficult in obstetrics. At the first moment, spouses experience an incomparable psychological shock, which then turns into a feeling of guilt, it seems to them that they will never have a healthy child.

It should be said right away that a child with congenital defects can be born in absolutely any family - young, healthy, without bad habits, with a normal pregnancy. According to long-term statistics, around the world, about 5% of children are born with congenital diseases.

Congenital malformations of the fetus can be divided into two large groups - hereditary (that is, inherent in genes and chromosomes, inherited) and actually congenital (acquired during intrauterine development). This division is rather arbitrary, since most developmental defects are caused by a combination of hereditary predisposition and unfavorable external influences, representing multifactorial anomalies.

The problem of congenital malformations of the fetus is very diverse; various specialists are engaged in the study of this issue - geneticists, neonatologists, embryologists, specialists in prenatal (prenatal) diagnostics. Sorting out the reasons is always difficult.

Hereditary diseases

Mutations are the cornerstone of hereditary diseases. Thanks to modern chilling thrillers, the word now causes almost superstitious horror in many. In fact, the Latin word mutatio means "change" - nothing more. Mutation is a change in the hereditary properties of an organism as a result of rearrangements in the structures responsible for the storage and transmission of genetic information. Diseases associated with pathological changes in chromosomes are usually called chromosomal diseases... Under actually hereditary diseases understand disorders caused by gene mutations.

Table 1 below lists just a few of the life-compatible hereditary anomalies by way of example.

Anomaly	Inheritance mechanism	Manifestation	Treatment and rehabilitation measures
Phenylketonuria (PKU)	Autosomal recessive inheritance - the birth of a sick child from healthy parents is possible. The frequency in the population is 1: 2000.	Gross retardation of mental and physical development associated with impaired metabolism of the amino acid phenylalanine.	Examination of ALL newborns for PKU on the 4-5th day of life. A special diet prevents the development of the disease.
Hemophilia	Sex-linked recessive inheritance. Mostly men are ill. Passed from mother to sons.	The disease is caused by a deficiency of certain blood clotting factors. It is manifested by bleeding.	Treatment for bleeding - blood, plasma transfusion; hemostatic agents of general action; antihemophilic globulin; prevention of injuries and bleeding.
Color blindness	Sex-linked recessive inheritance. It is observed mainly in men. Passed from mother to sons.	Partial color blindness. Most often distributed in red and green colors.	Color vision disorders are detected using special tables or spectral instruments. Color blindness cannot be treated.
Down's disease	Chromosomal anomaly: in the mother, during the maturation of the egg, under the influence of yet unclear reasons, 3 chromosomes are formed in the 21st pair of chromosomes instead of 2. The frequency in the population is 1: 700.	One of the forms of congenital dementia. The degree of mental underdevelopment varies considerably. Patients are generally affectionate, good-natured, welcoming.	Therapeutic pedagogy based on the patient's propensity to imitate. Education in auxiliary schools, occupational therapy.
	Autosomal dominant inheritance, transmitted to children from parents with a congenital form of the disease.	Ptosis of the upper eyelid due to underdevelopment of the muscle that lifts it.	Surgery.

Congenital multifactorial malformations

Congenital malformations are very diverse, they can affect almost any organs of the fetus. Various adverse effects on the organs of the fetus lead to their occurrence, especially in the early stages of pregnancy. The factors causing fetal malformations are called teratogenic. The most studied types of teratogenic effects are the following:

• Ionizing radiation (X-rays, exposure to radioactive isotopes). In addition to direct action on the genetic apparatus, ionizing radiation has a toxic effect and is the cause of many congenital anomalies.
• Teratogenic infections , i.e. infectious diseases transmitted from mother to fetus.
• Medication ... There are no drugs that can be unconditionally recognized as completely safe, especially in the early stages of pregnancy. During pregnancy, medications should be taken only as directed by the attending physician and taking into account their possible effect on the fetus. (See S. Gonchar "Medicines and Pregnancy" in this issue of the journal. - Approx. ed.) You should not go to the other extreme and not treat follicular sore throat or carious tooth just because "the pills are harmful to a pregnant woman." The fetus is good if the mother feels good!
• Alcohol ... The consumption of alcohol by a pregnant woman in large doses can lead to the development of fetal (ie affecting the fetus) alcohol syndrome - a severe congenital disease, sometimes incompatible with life. But one should not exaggerate the risk - a glass of champagne, drunk before conception, is not at all a reason to terminate a pregnancy! If you are concerned about the risk of "drunken conception", then be sure to consult a geneticist.
• Nicotine ... Smoking a lot of cigarettes during pregnancy leads to a delay in the child's physical development.
• Exposure to toxic chemicals ... Women who are in contact with active chemicals by the nature of their work should plan a pregnancy. 2-3 months before conception and the entire period of pregnancy (especially in terms of up to 14-16 weeks), it is advisable to exclude contact with chemicals that can cause a teratogenic effect in the fetus.

Often, however, a factor such as a hereditary predisposition plays a role in the development of congenital malformations: it is known that if parents or close relatives had congenital malformations, then the risk of giving birth to a child with similar defects increases, that is, we are talking about the "family accumulation" of anomalies development. Thus, a woman with a congenital heart defect has a slightly higher chance of having a child with a developmental defect in the cardiovascular system than all other women. Therefore, it is customary to talk not so much about simply congenital as about congenital multifactorial malformations ... Nevertheless, based on a large statistical material, it has been shown that the repeated risk of having a child with a congenital malformation is small - on average, 2-4%. Here are some examples of congenital multifactorial malformations compatible with life (see. Table 2).

I would like to emphasize once again that when it comes to congenital malformations, the question is "who is to blame?" often remains unanswered, it is more productive to look for an answer to the question "what to do?" Let's talk about this topic.

Developmental defect	Manifestations	Treatment
	The release of internal organs or deep tissues from the cavities usually occupied by them, under the skin or into the intermuscular tissue without violating the integrity of the integument.	Massage, if ineffective - surgical treatment.
Congenital dislocation and congenital dysplasia of the hip joint	Congenital dysplasia of the hip joint - underdevelopment of the tissues of the hip joint, lack of correspondence between the articular surfaces - a condition preceding the dislocation of the hip joint.	With dysplasia - the use of various orthoses (devices for hip abduction) in children under one year old. In case of dislocation - reduction, the imposition of special orthoses in the first months of life. If such treatment is ineffective, surgery is performed.
Uninfected upper lip (cleft lip)	Non-union of the lateral parts of the upper lip with its middle part. It can be one-sided and two-sided. Hinders sucking.	Surgery in the first months of life.
Uninfected palate (cleft palate)	Noninfection of the upper jaw and hard palate, resulting in a cleft connecting the mouth and nose. It causes malnutrition (food entering the windpipe, nasal cavity), breathing and speech. Often associated with a cleft in the upper lip.	Surgery and prosthetics; dispensary observation (change of medical devices) up to 16 years.
Polydactyly	Polydactyly - multiple fingers, the presence of extra fingers on the hand or foot. The most common of congenital malformations; most often occurs in the form of six-fingered, usually on one limb.	Surgery.
Congenital heart disease	Abnormal intrauterine formation of the septum of the heart (for example, non-closure of the atrial or interventricular septum) or the preservation after birth of features of intrauterine circulation (for example, open botalle duct) .	With minor defects of the interventricular septum, as the heart grows, the relative size of the opening decreases - up to complete spontaneous closure. In other cases, surgical treatment.

What to do, if…

1. You are planning a pregnancy

It is known that the "risk group" from the point of view of the birth of offspring with congenital diseases includes:

• men and women in whose families this or that hereditary disease has already been encountered - even if they themselves are not sick;
• families where there are already children suffering from congenital malformations;
• families in which previous pregnancies ended in miscarriages or stillbirths;
• spouses who are related (for example, cousins ​​and second cousins);
• women over 35 and men over 50;
• men and women, due to their occupation, state of health or for some other reason, exposed to the above teratogenic factors.

In all these cases, we strongly recommend that partners planning a pregnancy visit a medical genetic consultation. Geneticists will draw up a pedigree, determine the risk of having a child with a hereditary disease. The current level of development of medical technologies allows today, in case of an unfavorable prognosis, to resort to artificial insemination with donor sperm or fertilization of a donor egg. In addition, teratogenic factors should be excluded or minimized if possible.

2. You are expecting a baby

and belong to one of the listed "risk groups". The first step in this case should be a visit to a medical genetic consultation. It's not fun to talk about it, but there are - albeit very rarely - situations when, on the basis of genetics alone, it is concluded that the fetus is affected by a disease incompatible with life. In such a case, abortion is of course recommended. However, we repeat, these cases are very, very rare. As a rule, the specialists of medical genetic counseling are not engaged in diagnostics, but in assessing the risk of having a child with severe anomalies and, on the basis of this assessment, recommend one or another method of prenatal diagnosis. Further, the decision is made depending on the results of the study. Only a specialist can decide how high the risk of having a child with developmental defects really is. Do not rush to have an abortion if you read in the annotation that the drug that you took at the very beginning of pregnancy is not recommended for use during this period; if you took alcohol, drugs or suffered an acute respiratory viral infection, took an X-ray against the background of pregnancy, etc. Be sure to contact a medical genetic consultation, where they will be able to correctly assess the real risk and recommend the necessary set of studies.

3. You have a child with a congenital malformation

The best way to cope with psychological shock is to try to get as much information as possible about the nature of developmental defects. Make sure your child is consulted by a geneticist. It is highly desirable for a sick child to undergo a cytogenetic study (analysis for a karyotype - a set of signs of chromosomes). The more information about a sick child is obtained, the more effective the treatment will be and the more accurately it will be possible to establish a prognosis for the future. It is better to apply for a final medical and genetic consultation about the prognosis for the future in 2-3 months, when the psychological tension subsides and the spouses can more objectively perceive this kind of information. For most families, subsequent pregnancies are successful. The possibilities of prenatal diagnostics add confidence in a successful outcome for both doctors and patients.

The nuclei of somatic (non-sex) cells contain 23 pairs of chromosomes, of which one pair is the sex chromosomes. In women, this pair consists of two identical chromosomes, conventionally called X chromosomes, in men, these chromosomes are different - the X chromosome and the Y chromosome. Non-sex chromosomes are called autosomes. In sex cells, chromosomes are two times less - not 23 pairs, but 23 pieces. During fertilization, the nuclei of the egg and sperm merge, and the future man receives a full set of chromosomes, thus inheriting both maternal and paternal characteristics. Chromosomes are made up of genes. For each trait in the body, a pair of genes is responsible - "mother's" and "father's". (The exception is the XY-pair of sex chromosomes in men: not all genes of the X-chromosome have "partners" in the Y-chromosome.) In each pair, one gene dominates (dominant gene), i.e. a variant of the trait caused by it is manifested, the other - "inferior" (recessive gene). In an unfavorable combination of circumstances, both genes in a pair or one of them may be carriers of a pathological sign. In the first case, their "owner" is no doubt sick. If we are dealing with only one "diseased" gene, two options are possible: (1) the dominant gene is "responsible" for the disease - then its carrier is sick; (2) the carrier of the pathological trait is a recessive gene - then the person is healthy (more precisely, as doctors say, phenotypically healthy, that is, if there is a “diseased” gene in the genotype, there are no manifestations of the disease). Autosomal dominant inheritance The carrier of a pathological trait is a dominant gene contained in an autosome (non-sex chromosome). With this type of inheritance, the birth of a sick child in healthy parents is possible only as a result of a new mutation. Such an event is usually considered random and the risk of recurrence is low. Another situation is when one of the parents suffers from a disease or has a developmental defect with an autosomal dominant mode of inheritance. Moreover, half of the children can inherit such a defect or disease; boys and girls are equally susceptible to the disease. Such developmental defects have varying degrees of severity; in some cases, they are not rude and, after successful correction, do not interfere with normal life. Autosomal recessive inheritance The carrier of the pathological trait is a recessive gene contained in the autosome. With an autosomal recessive inheritance mechanism, the situation looks paradoxical - healthy parents suddenly have a child with developmental defects, often the most difficult and even incompatible with life. The reason is the carriage by both spouses in a latent state of mutant recessive genes. As in the autosomal dominant type, boys and girls are equally susceptible to the disease. The probability of re-birth of a sick child in this marriage is 25%, which is considered a high genetic risk. If there is no reliable prenatal diagnosis of such a disease, then spouses are not recommended to continue childbearing in this marriage. Sex-linked recessive inheritance Sex-linked malformations are mainly caused by recessive mutations in the female sex chromosome (this type of inheritance is also called the X chromosomal). This trait is always transmitted through the mother - the carrier of the recessive "sick" gene (ie, the woman herself is healthy). Almost all affected are men (the affected gene on the X chromosome in the Y chromosome lacks a “partner” that could dominate it). A sick man never passes on diseases to his sons (after all, they receive from him a “healthy” Y-, not a mutant X-chromosome), but all his daughters will be carriers of the “fatal” gene. We have intentionally sketched the types of inheritance to give the reader a general idea of ​​the essence of these mechanisms. In fact, everything is much more complicated - much less unambiguous and definite.

At all times, there have been certain intrauterine malformations of the child. The seemingly smaller percentage of anomalies in the development of children in the days of our grandmothers is due to the fact that now, thanks to a qualitatively new level of examination and management of pregnant women, it is possible to endure that pregnancy, which, without outside interference, would have been interrupted at a short time in the old days. The main reason for spontaneous abortions at a short time is precisely the various, genetically determined, abnormalities of deformity. Thus, we can say that at this stage the first natural selection in the life of an individual is performed.

Causes of fetal malformations

There are many reasons for the development of anomalies in children during intrauterine development. In the first place, of course, there are all kinds of genetic defects, both hereditary and acquired as a result of various disorders of embryogenesis. Changes at the genetic level occur under the influence of unfavorable environmental factors: ionizing radiation, exposure to toxic chemicals, including some drugs. A genetic defect can be passed on to a child from one of the parents, or it can be a "personal acquisition" - the mutation occurs after the combination of high-quality genetic information of a man and a woman. Unfortunately, methods of effective prevention of such situations have not yet been invented. Most of the embryos carrying a genetic mutation are not viable and their development stops almost immediately after fertilization, at the very beginning of the formation of the embryo. This situation is called fetal growth arrest and requires a thorough understanding of the reasons for its development. In addition to the genetic defects described above, maternal diseases can lead to the fading of pregnancy: infectious (including sexually transmitted infections), endocrine, and disorders of the immune system.

What are the congenital malformations of the fetus?

The severity of the pathology of fetal development can be different. It depends on the location of the genetic breakdown, and on the strength and duration of the toxic effect, if any. It should be noted that there is no clear relationship between the intensity of external influence and the severity of a particular developmental defect. A woman who has been toxic during pregnancy can give birth to a healthy baby. However, there is a risk that a fetal malformation will appear in the grandchildren or even great-grandchildren of this woman, as a result of genetic breakdowns that occurred in her child during the prenatal period, but did not have clinical manifestations.
The most common congenital fetal malformations are:
- complete or partial absence, deformation of one or another organ or part of the body (limbs, brain, internal organs);
- anatomical defects of the face and neck (clefts of the upper lip and palate, other anomalies of the facial skeleton);
- spina bifida - non-closure of the spinal canal, expressed in varying degrees;
- congenital heart defects;
The most common chromosomal abnormalities: Down syndrome and Edwards syndrome accompany multiple intrauterine fetal malformations.

Diagnosis of fetal malformations

Prenatal diagnosis of fetal malformations and chromosomal abnormalities is a very complex process. One of the stages of such diagnostics is the so-called screening studies - a set of examinations that are assigned to a woman at 12, 20 and 30 weeks of pregnancy. Such a complex includes a blood test for biochemical serum markers of chromosomal pathology (tests for fetal malformations).

In the first trimester (double test):
- free β-subunit of human chorionic gonadotropin;
- PAPP-A (pregnancy associated plasma protein A): pregnancy associated plasma protein A.
In the second trimester (triple test):
- total hCG or free β-subunit of hCG;
- α-fetoprotein (AFP);
- free (unconjugated) estriol.
Depending on the laboratory's capabilities, the latter analysis is sometimes not performed. An obligatory addition to such a study is an ultrasound of the uterus and fetus.

The result of each study cannot be assessed in isolation from other data - that is, the assessment of the result should be comprehensive and carried out only by a specialist.
Such an examination does not give a 100% guarantee, but only allows to identify a high-risk group among pregnant women who need invasive diagnostic methods - chorion biopsy, cordocentesis to determine the karyotype in the fetus and exclude chromosomal pathology from it.
Chorionic biopsy in the first trimester and placentocentesis or cordocentesis in the second trimester allow with 100% accuracy to exclude or confirm only chromosomal abnormalities in the fetus, but not defects! Congenital malformations of the fetus (CM) can be excluded only with the help of ultrasound of the fetus and, most often, at 20-22 weeks of pregnancy. Moreover, doctors of ultrasound diagnostics who conduct ultrasound of the fetus must have extensive experience in ultrasound of the fetus and specialize in prenatal diagnosis of congenital malformations. Unfortunately, not all doctors of ultrasound diagnostics are well aware of the anatomical features of the fetus, therefore, they miss the CMF. For the same reason, signs characteristic of genetic diseases can sometimes be seen (shape of the skull, features of skin folds, characteristic ratios of the sizes of the facial / cerebral skull, sizes of the head / body length, etc.). Another reason for errors in prenatal diagnostics of congenital malformations is the low quality of the equipment used for the study. With a low resolution of the ultrasound machine, even a high-class diagnostician can leave behind the scenes what is obvious to a student of a medical institute, provided that the device is of high quality. As a rule, in regional centers, large cities there are medical and genetic centers, where women are examined and consulted on a mandatory basis, at least once per pregnancy.

Pregnant women must be sent for medical genetic counseling:
- over 35 years old;
- having a child with Down syndrome or other genetically determined pathology;
- with cases of miscarriages, stillbirths, undeveloped pregnancies;
- if in the family of one of the parents there are patients with Down syndrome and other chromosomal pathology;
- undergone viral diseases in the early stages of pregnancy;
- while taking certain medications;
- if there was exposure to radiation.

So, in order to identify genetic defects in the fetus, it is necessary, first of all, to conduct screening blood tests. This will give a presumptive answer about the presence or absence of chromosomal abnormalities in the child. After the ultrasound, it becomes clear whether there are physical malformations or not. If experts find it difficult to resolve the issue of genetic defects, chorionic biopsy or cordocentesis is prescribed (depending on the duration of pregnancy).
Any case of detection of congenital malformations becomes a reason for offering a woman an abortion for medical reasons. If a woman decides to leave the child, she should be monitored especially closely, preferably by specialists from the medical genetic center.
Malformations of a child, in most cases, significantly limit his ability to live. The causes of fetal malformations must be established to determine the degree of risk in subsequent pregnancies.

Ultrasound of the fetus to identify genetic pathologies is the identification of trisomies (an additional third chromosome in the genetic set of the fetus), leading to the birth of a baby with serious hereditary diseases and physical deformities. It is possible to detect fetal defects on ultrasound already at the first stages of pregnancy.

Doctor's consultation based on test results or ultrasound - 500 rubles. (at the request of the patient)

Why do you need to do an ultrasound to identify fetal malformations

For every 1000 newborns, there are 5-7 babies with abnormalities of sex (hereditary) or somatic (non-hereditary) cells. Most often, an embryo with a chromosomal disorder dies in the early stages of pregnancy, when a woman develops ... With the help of ultrasound, you can see various anomalies and pathologies, therefore, ultrasound to identify malformations is mandatory for every pregnant woman.

When and why do fetal genetic pathologies occur: risks by age

Anomalies in the development of the fetus are laid already at the time of fertilization of the egg by the sperm. For example, such a pathology as triploidy (the presence of three chromosomes in a row of a chain, and not two, as it should be) occurs when two sperm cells enter the egg, each of which leaves one chromosome. Naturally, with such a set, a living organism cannot survive, therefore, at a certain stage, a miscarriage occurs or .

Spontaneous miscarriages occur in 50% of abnormal fertilizations. This is how nature protects humanity from complete degeneration.

In general, chromosomal pathologies are divided into 4 groups:

1. Gametopathy.The pathology is present even before conception in the sperm or ovum itself, i.e. this genetic disease is a congenital pathology.
2. Blastopathy... Anomalies occur in the first week of zygote development.
3. Embryopathy... The embryo gets damaged in the period from 14 to 75 days after conception.
4. Fetopathy... It consists in the formation of the pathology of fetal development starting from the 75th day after fertilization.

No one is safe from the birth of a baby with genetic disabilities. If earlier the risk group included mothers over 35 years old, diabetics, women with chronic diseases (kidney failure, thyroid problems), nowadays sick children are born to young mothers aged 20 to 30 years.

These statistics are suggestive of gloomy thoughts. So, the risk of having a baby with chromosomal abnormalities in 20-year-old women is 1: 1667, and in 35-year-olds it is already 1: 192. In fact, this means that in 99.5% of cases, a child of a thirty-five-year-old mother will be born healthy.

What genetic diseases of the fetus can be seen on ultrasound, when to pass

It cannot be said that an ultrasound scan shows 100% of all deviations, but with a high degree of probability a woman will know about the state of health of her unborn baby. During the entire pregnancy, a woman undergoes at least three ultrasound examinations: in the 1st, 2nd and 3rd semesters. They are called .

In 1 semester for a period of 10 to 14 weeks (up to 10 weeks of ultrasound is not informative), a pregnant woman undergoes a study called screening. It consists of a biochemical blood test and an ultrasound examination of the embryo. The result of screening is the identification of the following pathologies:

• Down syndrome
• Patau syndrome
• Edwards syndrome
• Shereshevsky-Turner syndrome
• Carnelia de Lange syndrome
• Smith-Lemli-Opitz syndrome
• Prader-Willi syndrome
• Angelman syndrome
• Langer-Gideon syndrome
• Miller-Dicker syndrome
• DiGeorge anomaly
• Williams syndrome
• Wilms tumor
• triploidy (when chromosomes are not 46 by 2 in each pair, but 69, i.e. three, not two)
• neural tube defect

Another ultrasound is done at 20-24 weeks. Among the genetic diseases of the fetus, visible on ultrasound examination in the 2nd semester, it is possible to note:

• anencephaly (no brain, 100% diagnostic accuracy)
• abdominal wall pathology (86%)
• pathology of limb development (90%)
• spinal cord hernia (87%)
• developmental pathology or absence of kidneys (85%)
• the presence of an opening in the diaphragm that separates the abdomen and chest (85%)
• (100%)
• heart anomalies (48%)

On the 3rd semester, dopplerometry is performed - an ultrasound examination with the determination of the vascular system of the fetus, placenta and mother. From the 23rd week of pregnancy, the umbilical artery, uterine artery and middle cerebral artery are checked. The systolic (with the contraction of the heart muscle) and diastolic (with the relaxation of the heart muscle) blood flow is investigated. In a baby with chromosomal abnormalities, blood flow is atypical.

Also in the 3rd semester they must do - measurement of sizes in order to identify developmental anomalies.

Types of ultrasound studies

Ultrasound diagnostics represents a wide range of studies. There are several types of ultrasound, which with extreme accuracy determine the intrauterine malformations of the baby.

Standard ultrasound... It is usually combined with a biochemical blood test. It should be carried out no earlier than 10 weeks of pregnancy. First of all, the thickness of the collar zone, which should not exceed 3 mm, is detected in the fetus, as well as visualization of the nasal bone. In a baby with Down syndrome, the collar zone is thicker than normal, and the nasal bones are not developed. Also, the increase in thickness is influenced by the following factors:

• heart disease
• stagnation of blood in the cervical veins
• lymphatic drainage disorder
• anemia
• intrauterine infections

Doppler sonography - eThis is an unusual ultrasound scan that evaluates fetal blood flow. The difference between the sent and reflected signal indicates the norm or pathology of the fetus-placenta-mother chain.

1. allows you to see the color image of the baby, to see the limbs, the absence of fused fingers, underdeveloped feet etc. The accuracy of the collar space diagnostics is increased by 30%. The doctor can tell for sure whether there are pathologies in the development of the neural tube.
2. according to the principle of operation, it does not differ from simpler options, but it has a lot of advantages. The doctor sees a three-dimensional image of the heart, a view of the fetus from different angles. It is 4D diagnostics that finally puts all the dots on the “i”, whether there are chromosomal anomalies or not. With 100% accuracy it can be argued whether there are malformations of the nervous system, skeletal dysplasia, cleft lip or cleft palate.

What does an ultrasound scan of common fetal pathologies look like: photo and interpretation of ultrasound results

Genetic pathologies are both specific (Down syndrome, Wilms tumor) and general, when the internal organ does not develop correctly. To identify common abnormalities, there is an anatomical examination of the fetus. It takes place in the 2nd semester starting from the 20th week of pregnancy. During this period, you can see the baby's face and determine its gender.

With anatomical ultrasound, all organs of the fetus are displayed in a section, and on the image the bones will have a white color, and the soft tissues will have different shades of gray. A specialist can clearly see the structure of the brain, he is also able to see abnormalities in development. Cleavage of the upper palate, called the cleft lip, becomes noticeable.

The longitudinal and transverse projection of the spine confirms or refutes the correct location of the bones, you can verify the integrity of the abdominal wall. The absence of cardiac pathologies is confirmed by the same size of the atria and ventricles. The normal functioning of the stomach is indicated by its fullness with amniotic fluid. The kidneys should be in place, and urine from them should flow freely into the bladder. The doctor clearly sees the limbs of the fetus, except for the toes.

Genetic pathologies of the fetus: how they look on ultrasound and the prognosis of pathology

Pathology	How and when to identify	What is the essence of pathology	Specific traits	Mental and intellectual development
Down Syndrome	Chorionic biopsy is performed, an enlarged collar space in the fetus, underdevelopment of the nasal bones, increased bladder, fetal tachycardia	Chromosomes of the 21st pair are represented by 3 instead of 2 in the chain	Slanting Mongoloid eyes, regardless of the child's race, undeveloped nose bridge, shallow-set eyes, semicircular flat ear, shortened skull, flat nape, shortened nose	Delayed intellectual development, small vocabulary, no abstract thinking, no concentration, hyperactivity
FORECAST	Live up to 60 years old, in rare casessubject to constant activities with the child, his socialization is possible.Such a child needs constant supervised
Patau syndrome	Small head at 12 weeks on ultrasound, asymmetrical hemispheres, extra fingers	Trisomy is present on chromosome 13	Children are born with microcephaly (underdevelopment of the brain), low forehead, slanted eye slits, cleft lip and palate, corneal opacity, heart defects, enlarged kidneys, abnormal genitals	Deep mental retardation, lack of thinking and speech
FORECAST	95% of children with Patau syndrome dieup to a year, the rest rarely live up to 3-5 years
Edwards syndrome	Chorionic biopsy, intrauterine taking blood from the umbilical cord, ultrasound is visible microcephaly	There is trisomy on chromosome 18	Mostly girls are born (3/4), and the male fetus dies in the womb. Low sloping forehead, small mouth, underdevelopment of the eyeball, clefts of the upper lip and palate, narrow ear canal, congenital dislocations, clubfoot, severe abnormalities of the heart and gastrointestinal tract, brain underdevelopment	Children suffer from oligophrenia (organic brain damage), mental retardation, imbecility (average mental retardation), idiocy (lack of speech and mental activity)
FORECAST	Dies during the first year of life90% of sick children, under 10 years old - less than 1%
Shereshevsky-Turner syndrome	X-ray of fetal bone structures, MRI of the myocardium	An anomaly occurring on the X chromosome	It is more common in girls. Shortened neck with folds, swollen hands and feet, hearing loss. Sagging lower lip, low hairline, underdeveloped lower jaw. Growth in adulthood does not exceed 145 cm. Joint dysplasia. Abnormal tooth development. Sexual infantilism (no follicles in the ovaries), underdevelopment of the mammary glands	Speech, attention suffers. Intellectual abilities are not impaired
FORECAST	Treatment is carried out with anabolic steroids, girls from the age of 14 are prescribedfemale hormonal drugs. INin some cases, it is possible to defeat the disease, and a woman can become pregnantIVF method. Most of the sickremain sterile
Polysomy on the X chromosome	Screening at 12 weeks gestation, chorionic biopsy, analysis of amniotic liquids. Alarming increase collar zone	Instead of two X chromosomes, there are three or more	It occurs in girls and rarely in boys. Characterized by sexual infantilism (secondary sexual characteristics do not develop), high growth, curvature of the spine, hyperpigmentation of the skin	Antisocial behavior, aggression, mental retardation in men.
FORECAST	With constant training with teachersand involvement in labor activitysocialization of the child is possible
Y-chromosome polysomy		Instead of XY chromosomes, there is an extra Y chromosome	Occurs in boys. They grow tall from 186 cm, heavy massive lower jaw, convex brow ridges, narrow shoulders, wide pelvis, stoop, belly fat	Mental retardation, aggression, emotional instability
FORECAST	You need to deal with the child, guidehim for peaceful activities, to attract to sports
Carnelia de Lange syndrome	Protein-A was not detected in the serum of a pregnant woman's blood plasma (PAPP-A), which is usually a lot	mutations in the NIPBL or SMC1A gene	Thin fused eyebrows, shortened skull, high palate, abnormally erupted teeth, underdeveloped limbs, marbled skin, congenital malformations of internal organs, growth retardation	Deep mental retardation,
FORECAST	Average life expectancy 12-13 years
Smith-Lemli-Opitz syndrome	Ultrasound shows abnormalities of the fetal skull, ribs are not visible bones	a mutation in the DHCR7 gene responsible for the production of cholesterol	Narrow forehead, drooping eyelids, squint, deformity of the skull, short nose, low set ears, underdeveloped jaw, genital anomalies, finger fusion	Increased excitability, aggression, decreased muscle tone, sleep disturbances, mental retardation, autism
FORECAST	Food therapy cholesterol
Prader-Willi syndrome	Low fetal mobility is noted, wrong position,	The 15th chromosome is missing the paternal part of the chromosome	Low stature obesity, poor coordination, weak muscle tone, squint, thick saliva, bad teeth, infertility	Delayed mental development, speech lag, lack of communication skills, poor fine motor skills. Half of the patients have an average level of intelligence, can read
FORECAST	With constant practice, the child can learn to read, count, remember people. Overeating should be combated
Angelman syndrome	From the 12th week there is fetal growth retardation and mass	Missing or mutated UBE3A gene on chromosome 15	Frequent unreasonable laughter, shallow tremor, a lot of unnecessary movements, wide mouth, tongue falls out, walking on perfectly straight legs	“Happy Puppet Syndrome”: the child often laughs for no reason. Delayed mental development, hyperactivity, impaired coordination of movement, chaotic hand waving
FORECAST	Antiepileptic therapy, muscle hypotonia is reduced by massage, at best a childwill learn non-verbal communication and self-service skills
Langer-Gideon Syndrome	On 4D ultrasound, the maxillofacial anomaly	trichorinophalangeal syndrome, which is a violation of the 8th chromosome	Long pear-shaped nose, underdevelopment of the lower jaw, very protruding ears, unevenness limbs, curvature of the spine	Mental retardation, mental retardation of varying degrees, lack of speech
FORECAST	Poorly amenable to correction, lowlifespan
Miller-Dicker Syndrome	An abnormal structure is noticeable on ultrasound skull, facial imbalances	Pathology in the 17th chromosome, causing a smoothing of the cerebral convolutions. Caused by fetal intoxication aldehydes for abuse mother of alcohol	Dysmorphia (alcohol syndrome), heart disease, kidney disease, convulsions	Lissencephaly (smoothness of the convolutions of the cerebral hemispheres), underdevelopment of the brain, mental retardation
FORECAST	The survival rate is up to 2 years. Children can only learn to smile and look in the eyes.
DiGeorge anomaly	In some cases, ultrasound reveals various organ defects in the baby, especially the heart (tetralogy of Fallot)	Disease of the immune system, violation of the 22nd chromosome region	Thymus hypoplasia (underdevelopment of the organ responsible for the production of immune cells), deformity of the face and skull, heart disease. Absent parathyroid glands responsible for exchange of calcium and phosphorus	Atrophy of the cerebral cortex and cerebellum, mental retardation, motor and speech difficulties
FORECAST	Treatment with immunostimulants, thymus transplant, calcium replacement therapy. Children rarely live up to 10 years old, die from the consequences of immunodeficiency
Williams Syndrome	Ultrasound shows imbalances in the development of the skeleton, elasticity of the joints	Genetic disease caused by the absence of a link on the 7th chromosome	Elastin protein synthesis is impaired, children have a typical “Elf's face”: swollen eyelids, set low eyes, sharp chin, short nose, wide forehead	Increased sensitivity to sound, impulsivity, obsessive sociability, emotional instability, anxiety, expressive speech
FORECAST	Speech is well developed, even better thanin healthy peers. Expressedmusical ability (absolutehearing, musical memory). Difficulties solving math problems
Beckwith-Wiedemann syndrome	On ultrasound are noticeable abnormally disproportionate limbs, excess body weight, kidney pathology	Genetic disease caused by the absence of a link on the 11th chromosome	Rapid growth at an early age, abnormally large internal organs, tendency to cancerous tumors. The child has an umbilical hernia, an abnormally large tongue, microcephaly (brain underdevelopment).	Emotional and mental development in some cases does not lag behind the norm. Sometimes severe mental retardation occurs
FORECAST	Life expectancy as usualpeople, but there is a tendency to cancerous tumors
Treacher Collins Syndrome	On ultrasound, a pronounced asymmetry of facial features is visible	Genetic mutation on chromosome 5 causing bone damage	The child has practically no face, a pronounced physical deformity	Absolutely normal psycho-emotional development
FORECAST	Surgical interventions are performedin order to eliminate deformities

Causes of fetal pathologies: what affects the birth of children with genetic abnormalities

Factors contributing to the birth of children with genetic abnormalities include:

1. Genetic predisposition... Genes are information provided by both parents. Indicators such as height, eye and hair color are determined. In the same way, various deviations are laid, if both or one of the parents has a damaged gene. That is why it is forbidden to marry close relatives. After all, then the likelihood of bearing a fetus with a genetic pathology increases. A partner with the opposite genetic makeup is more likely to have a healthy baby.
2. Parents age... The risk group includes moms over 35 and dads over 40. With age, immunity decreases, chronic diseases arise, and the woman's immune system simply does not "notice" genetically damaged sperm. Conception will occur, and if the body of a young woman rejects the defective fetus by itself, in an older mother pregnancy will be more relaxed.
3. Mom's bad habits... Almost 90% of pathological pregnancies occur with oligohydramnios. In a woman who smokes, the fetus suffers from hypoxia, decomposition products of aldehydes (alcohols) in the early stages of pregnancy lead to mutations and deviations. In 46% of alcoholics, children are born with genetic pathologies. Alcohols also break genetic chains in dads who love to drink.
4. Infections... Diseases such as flu, rubella, chickenpox are especially dangerous. The most vulnerable fetus is up to the 18th week, until the amniotic sac is formed. In some cases, the woman is asked to do .
5. Reception medicines... Even regular chamomile tea for a pregnant woman is toxic. Any medication intake must be accompanied by a doctor's advice.
6. Emotional upheavals... They cause the death of nerve cells, which invariably affects the development of the fetus.
7. Poor ecology and climate change... Having become pregnant while on holiday in Thailand, there is a chance, along with pregnancy, to bring a dangerous infection, which will slowly develop in the native land, affecting the health of the baby.

How to prevent fetal defects and where to do an ultrasound of the fetus in St. Petersburg

Most problems with gestation and fetal pathologies can be prevented by planning a pregnancy in advance. both partners undergo tests that clearly show the likelihood of genetic abnormalities. A range of tests is also carried out for infections that can cause deformities in a baby ( ) and other studies.

We invite you to undergo an ultrasound scan for fetal pathology in St. Petersburg c. We have installed the latest ultrasound machine with a Doppler. The survey is carried out in 3-D and 4-D formats. A disc with a record is handed out.

Congenital malformations of the fetus (CM) are one of the most dangerous complications of pregnancy, which comes first among the causes leading to childhood disability and mortality. The birth of a child with congenital developmental defects always overwhelms the family, this topic is one of the most difficult.

The statistics are scary, against the background of decreasing infant mortality, an increase in the number of congenital malformations is observed in most countries of the world. If in European countries the incidence of congenital malformations is 3-4 cases per 1000 births, then in Russia it reaches 5-6 cases per 1000.

Congenital malformations include malformations of the nervous system - anencephaly (absence of the brain), back bifida (open hernia of the spinal cord), defects of the cardiovascular system (heart defects, etc.), limb defects - atresia (absence), maxillary Facial deformities - cleft lip, cleft palate and more.

Causes of fetal congenital malformations

The reasons for the formation of congenital malformations are different. This pathology can be hereditary if future parents have abnormalities in the chromosome set. In other cases, the source of the problem is various harmful factors: infections, frequent alcohol consumption, drugs.

One of the reasons is the lack of vitamins in the diet of a pregnant woman, in particular folic acid. The recommended norm of micronutrients for a pregnant woman is one and a half times more than for women of childbearing age. And this is not accidental - the health of the child depends on it both when he is in the womb, and after his birth.

Pediatricians believe that, in addition to congenital malformations, such diseases of newborns as iron deficiency anemia, rickets or developmental delay are often associated with the fact that the expectant mother did not have enough vitamins and minerals during pregnancy.

Other disorders can make themselves felt much later - already in kindergarten and school: these are diseases of the gastrointestinal tract and metabolic diseases, in the first place, as well as diabetes and obesity.

It is important to remember that the lifestyle of the expectant mother, her diet, bad habits create the basis for the health of her future baby. A lack of vitamins can cause disorders in the physical and mental development of the child. This greatly increases the risk of having children with various developmental disabilities and low body weight.

Key factor: folic acid

Folic acid plays the leading role in the prevention of congenital malformations in the fetus. It is necessary for cell division, the growth and development of all organs and tissues, the normal development of the embryo, and the processes of hematopoiesis. Folic acid prevents the likelihood of premature birth and rupture of the amniotic sac.

This vitamin provides the necessary rate of growth and development of the unborn child, especially in the early stages of pregnancy. Folic acid deficiency during pregnancy significantly increases the risk of congenital malformations in the fetus, in particular neural tube defects, hydrocephalus and anencephaly. To prevent developmental disorders of the neural tube in the embryo, a woman should take at least 800 mcg (0.8 mg) of folic acid daily, both before and throughout pregnancy.

Today, doctors are confident in the need for large-scale educational activities that promote planned pregnancy and preventive measures that can significantly reduce the risk of having a baby with congenital malformations - in particular, taking medications containing folic acid.

A number of countries, such as Argentina and Turkey, are already implementing government programs to prevent congenital developmental pathologies. They consist of an educational part that explains to medical specialists and women themselves the ways of preventing fetal malformations and a stimulating part - compensation for 70-80% of the cost of multivitamin preparations containing folic acid.

Vitamins for life

There is an opinion that a well-balanced daily diet of a pregnant woman contains a sufficient amount of vitamins, microelements and in this case no additional prescription of multivitamin complexes is required. However, according to European data, vitamin deficiency in pregnant women is 20-30% even with the most balanced and varied diet.

Modern studies, regularly carried out in recent years by the Russian Academy of Medical Sciences, have shown that the diet of a modern woman, composed of natural products, is quite adequate to our energy consumption and even excessive in calories, is not able to provide the body with the necessary amount of vitamins during pregnancy and lactation.

For more information, please visit elevite.ru

* A.E. Czeizel The use of multivitamins containing folic acid during conception. Europ. J. Obstetr. Gynecol. Reproductive Biology 1998,151-161.