Congenital malformation of the fetus - what is it? Congenital malformations of the central nervous system Risk of having a child with congenital defects.

Congenital defects fetal development(CM) is one of the most threatening complications of pregnancy, which ranks first among the causes of childhood disability and mortality. The birth of a child with congenital developmental defects always stuns the family: this topic is one of the most difficult.

The statistics are frightening: against the backdrop of declining child mortality, an increase in the number of congenital malformations is observed in most countries of the world. If in European countries the frequency of congenital birth defects is 3-4 cases per 1000 births, then in Russia it reaches 5-6 cases per 1000 births.

Congenital malformations include malformations of the nervous system - anencephaly (absence of the brain), spina bifida (open herniation of the spinal cord), malformations of the cardiovascular system (heart defects, etc.), defects of the limbs - atresia (absence of limbs), maxillofacial deformities - cleft lip, cleft palate and much more.

Why is this happening? The reasons that cause 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, taking large doses of alcohol, drugs.

One of the reasons is a lack of vitamins in the diet of a pregnant woman, in particular folic acid. The recommended micronutrient intake for a pregnant woman is one and a half times greater than for women of childbearing age. And this is no coincidence - the health of the child in the womb and the health of the newborn depend on it.

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

Other violations may make themselves known much later - already in kindergarten and school: these are diseases of the gastrointestinal tract, metabolic diseases (primarily diabetes and obesity).

It is important to remember that lifestyle expectant mother, her nutrition - everything creates the basis for the health of the unborn baby. And a lack of vitamins can cause physical and mental disorders. The risk of having children with various developmental disabilities and low body weight increases significantly.

Key Factor: Folic Acid

The leading role in the prevention of congenital malformations in the fetus belongs to folic acid. It is necessary for proper cell division, growth and development of all organs and tissues, normal development of the embryo, and hematopoietic processes. prevents the possibility of occurrence and rupture of the amniotic membrane.

This vitamin ensures the necessary speed of growth and development of the unborn child, especially at early stages pregnancy. Folic acid deficiency during pregnancy significantly increases the risk of developing congenital defects in the fetus, in particular neural tube defects and anencephaly. To prevent neural tube development 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 promoting planned pregnancy and preventive measures that can significantly reduce the risk of having a child with congenital birth defects.

A number of countries are already implementing government programs to prevent congenital developmental pathologies. These programs consist of an educational part that explains to medical specialists and expectant mothers how to prevent the occurrence of fetal malformations, and an incentive 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 and microelements. And that 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.

Studies regularly conducted by the Russian Academy of Medical Sciences (RAMS) in recent years have shown that the diet of a modern woman, composed of natural products, quite adequate to our energy consumption and even excessive in calorie content, turns out to be unable to provide the body with required quantity vitamins during pregnancy and breastfeeding.

That is why experts recommend that expectant mothers take specialized vitamin and mineral complexes that compensate for the lack of micronutrients in a pregnant woman’s diet. The optimal composition is Elevit Pronatal ®, which contains 12 vitamins and 7 minerals and trace elements. Elevit Pronatal ® is the only vitamin and mineral complex for pregnant women that has proven* its clinical effectiveness in reducing the risk of congenital malformations of the fetus. It has been proven that Elevit reduces the risk of fetal neural tube defects by 100% and reduces the risk of other birth defects by 47%.

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

Discussion

Do you think electromagnetic radiation can cause birth defects?! How to protect a child? Maybe there are special costumes?

1! Absolutely disgraceful treatment of facts :(

Comment on the article "Congenital malformations of the fetus"

More on the topic “Congenital malformations of the fetus”:

Let us recall that the idea to introduce additional five certification tests for grade 11 (in addition to the Unified State Exam) arose in Rosobrnadzor after the Ministry of Education set out to shift the school and students from training to unified exams. Indeed, the cancellation of final certification and the postponement of school entrance exams literally disfigured it. And it’s good that the ministry finally paid attention to this. However, the method chosen to solve the problem was absolutely stupid, not only with zero...

Speech by Professor of Karelian State University Ivanov A.V. in St. Petersburg, July 4, 2016. “There are only two final exams at school: basic mathematics and Russian. Senior grades in school have become meaningless.” Video: [link-1]

Cytomegalovirus infection (CMVI) is the most common intrauterine infection, one of the causes of miscarriage and the occurrence of congenital pathologies. In Russia, 90%-95% of expectant mothers are carriers of the virus, many of whom have virtually asymptomatic disease. Vasily Shakhgildyan, Candidate of Medical Sciences, Senior Researcher, Federal Scientific and Methodological Center for the Prevention and Control of AIDS Federal Budgetary Institution "Central Research Institute of Epidemiology" of Rospotrebnadzor: "Cytomegalovirus...

"Elevit Pronatal" is a complex of vitamins, minerals and trace elements intended for women at the stage of pregnancy planning, during pregnancy and after childbirth during breastfeeding. To date, Elevit Pronatal is the only vitamin-mineral complex (VMC), the effectiveness of which in preventing congenital malformations has been clinically proven 1. One Elevit Pronatal tablet (which is the daily dose) contains 800...

Folate (folic acid) is an important vitamin that is very beneficial for women’s health in general and especially for reproductive health: Folates are B vitamins and are not produced in the body. Folate is the general name for various forms of a water-soluble vitamin that is essential for cell division. Folic acid is a form of folate. Folates provide a number of important functions in the body, including ensuring the healthy development and growth of the fetus in the womb...

Multiple congenital malformations. One of the defects: congenital kidney malformation, hydronephrosis of the left kidney.

“Prevention” of the disease by destroying the “patient” Nina Aleksandrovna Sokolova - candidate of biological sciences, senior researcher at VINITI RAS, executive editor of two scientific journals: “Human and Animal Physiology” (issue “Endocrine system. Reproduction. Lactation”) and “Clinical Endocrinology” " Massino Yulia Sergeevna - Candidate of Biological Sciences, senior researcher at the Institute of Higher Nervous Activity and Neurophysiology of the Russian Academy of Sciences. [link-1] [link-2] ...according to...

And autistic-like behavior, external compensated hydrocephalus, and congenital malformation (cleft palate has not yet been operated on), etc...

health group III – children with chronic diseases and congenital malformations of varying degrees of activity and compensation, with preserved functionality

The next test involves an ultrasound examination of the fetus to check for congenital malformations.

Every second or third child suffering from congenital alcohol syndrome develops heart defects. Among other developmental defects that often accompany ASP...

Second ultrasound - at 24 weeks - is it really necessary? What they write about its tasks: "...the main task of ultrasound in the second trimester, perhaps, is the prenatal diagnosis of congenital deformities in the fetus."

labia and cryptorchidism. Among other developmental defects that often accompany AS, congenital and acquired heart defects, unfortunately, are becoming more common in children...

Perinal damage to the central nervous system, mixed origin, retention syndrome intrauterine development, Congenital heart defect...

HELLO! I AM AT 32-33 WEEKS. AT THE LAST ULTRASOUND, DEFECTS OF THE CNS OF THE FETUS WERE DETECTED: HYDROCEPHALUS, AGENESIS OF THE CORPUS CALLOSUM, ARCHNOIDAL CYST. SMALL VSD IN THE FETUS. DURING PREGNANCY I WAS IN THE HOSPITAL TWO TIMES: AT 6-7 WEEKS AND 28-29 WEEKS WITH A THREATENED PREMERATE BIRTH. DURING THE PREGNANCY, 3 SCREENINGS WERE CARRIED OUT, WHERE THE FETUS DEVELOPED NORMALLY WITHOUT INDICATORS FOR CNS DEFECTS, ETC. ONLY AT 31-32 WEEKS I WAS DISCOVERED WITH THE SUCH DIAGNOSIS, AND IT WAS CONFIRMED BY 3 ULTRASOUND SPECIALISTS. IN THE UTERUS CAVITY 1 FETUS IN THE HEAD PRESENTATION. FETOMETRY: BRG-79MM(32WEEKS) OG-285MM(31N.2DN.) OJ 257MM(31N.) LENGTH OF THE RIGHT AND LEFT HUMERUS 54MM-31WEEKS. 6D. LENGTH OF THE RIGHT AND LEFT FEMURUM 56MM.-29WEEKS 5 DAYS. DL. ETC. AND LEO. SHIN BONES 51MM.-31WEEKS. DL. RADIAL BONE 44MM.- 30WEEKS.6 DAYS. ESTIMATED FETAL WEIGHT 1520 -+ 210 GR. FETAL ANATOMY: THE LATERAL VENTRICLES OF THE BRAIN ARE EXTENDED, ASYMMETRICAL, THE POSTERIOR HORNS OF THE LATERAL VENTRICLES ARE 17MM ON THE LEFT, 26MM ON THE RIGHT. THE THIRD VENTRICLE IS DILATED TO 10 MM. THE CAVITY OF THE TRANSPARENT SEPTUM IS NOT VISUALIZED. WITH A SAGITTAL SECTION, THE CORPUS CALLOSUM IS NOT RELIABLY LOCATED. ON THE SIDE OF THE MIDLINE, ON THE LEFT, WITHIN THE ANTERIOR AND MIDDLE CRANIAL FALLS, A ROUND-HAMED ANECHOGENIC STRUCTURE FORMATION IS LOCATED WITH DIMENSIONS 40*28 MM, AVASULAR IN THE CDO MODE. LARGE TANK 6 MM. INTERHEMISPHERE SIZE OF THE CEREBELLUM 36 MM - 30 WEEKS.3 DAYS. SYLVIAN FURUS IS LOCATED. FACIAL STRUCTURES: PROFILE - WITHOUT FEATURES, NASOLABIAL TRIANGLE - WITHOUT FEATURES. THE WIDTH OF THE ALVEOLAR PROCESS IS 27 MM. ORBIT DIAMETER 15 MM, INTRAORBITAL DIMENSION 17.5 MM. SPINE WITHOUT DEFORMATION. LUNGS WITHOUT FEATURES. FETAL ECHOKS. THE APTIC OF THE HEART IS LOCATED IN THE ANTERO-LEFT QUADRANT OF THE THORACIC CAVITY, THE BASE OF THE ROM IS TO THE LEFT OF THE STERNUM. HEART SIZES ARE USUAL. Heart rate 138 BP. IN MIN. THE AXIS OF THE HEART IS AT AN ANGLE OF 45 DEGREES RELATIVE TO THE SAGITAL PLANE. THE DIMENSIONS OF THE ATRIA ARE THE SAME, THE FORAMA OVAL VALVE OPENS INTO THE CAVITY OF THE LEFT ATRIUM, AND FUNCTIONS. THE SIZES OF THE VENTRICLE ARE THE SAME. IN THE MIDDLE THIRD OF THE ROM, THE ECHO-NEGATIVE ZONE IS 1MM, AND IN THE CDO MODE, PATHOLOGICAL SHUNT IS DETERMINED. ATRIVENTRICULAR VALVES ARE LOCATED AT THE SAME LEVEL AND WORK SYNCHRONOUSLY. THE STRUCTURE OF THE MYOCARDIUM, ENDOCARDIUM AND PERICARDIUM IS USUAL. SHORT-AXIS SECTIONS THROUGH THE MAIN ARTERIES AND A SECTION THROUGH 3 VESSELS WITHOUT FEATURES. IN COMBINATION MODE, THERE ARE LAMINARY FLOWS IN THE ASCENDING AORTA AND PULMONARY ARTERY. STOMACH, GALL BLADDER, INTESTINES, KIDNEYS, LIVER - NO SPECIFICATIONS. THE PLACE OF ATTACHMENT OF THE UMBILICAL CORD TO THE ANTERIOR ABDOMINAL WALL IS LOCATED. THE PLACENTA IS LOCATED ON THE FRONT WALL OF THE UTERUS, REACHING THE FUND. PLACENTA THICKNESS IS NORMAL - 33MM. DEGREE OF MATURITY 1ST, WHICH CORRESPONDS TO THE DATE OF PREGNANCY. THE AMBIENT FLUID AMOUNT IS NORMAL. THE UMBRICAL CORD HAS 3 VESSELS, ATTACHED PARACENTRALLY. THE WALLS OF THE UTERUS WITHOUT FEATURES. NO DISTURBANCES IN THE UROPLACENTAL AND FETAL-PLACENTAL BLOOD FLOW HAVE BEEN DETECTED. WHAT IS THE PROGNOSIS FOR SUCH A CHILD, WHAT SHOULD I EXPECT AND WHAT SHOULD I DO?

16769 0

Congenital malformations of the fetus occupy 2-3 places in the structure of causes of perinatal mortality, and their frequency has increased significantly in recent years. In this regard, it becomes especially relevant early diagnosis developmental defects, facilitating a timely decision on the possibility of further prolongation of pregnancy, which, in turn, is determined by the type of anomaly, compatibility with life and prognosis for postnatal development.

The classification of common malformations of the central nervous system (CNS) can be presented as follows:

1. Hydrocephalus:

a) stenosis of the cerebral aqueduct;

b) open hydrocephalus;

c) Dandy-Walker syndrome.

2. Choroid plexus papilloma.

3. Neural tube defects:

a) spina bifida;

b) anencephaly;

c) cephalocele.

4. Microcephaly.

Hydrocephalus occurs with a frequency of 0.3-0.8 per 1000 live births. In most cases, congenital hydrocephalus is caused by obstruction in one of the sections of the cerebrospinal fluid (CSF) circulation path. Hydrocephalus is often combined with other anomalies: in 37% of cases it is accompanied by other intracranial pathology - hypoplasia of the corpus callosum, cephalocele, arteriovenous anomalies, arachnoid cysts; extracranial anomalies - in 63%. Among the latter, it is worth noting malformations of the kidneys (unilateral and bilateral agenesis and dysplasia), heart defects (ventricular septal defect, tetralogy of Fallot), meningomyelocele, cleft upper lip, hard and soft palate, agenesis of the anus and colon, gonadal dysgenesis, Meckele syndrome. In 11% of fetuses, chromosomal abnormalities are detected - trisomy 21 pairs, balanced translocations, mosaicism.

Hydrocephalus comes in three main forms:

stenosis of the cerebral aqueduct;
open hydrocephalus;
Dandy-Walker syndrome.

Cerebral aqueductal stenosis(SVM) is a form of obstructive hydrocephalus caused by narrowing of the Sylvian aqueduct. The specific frequency of SVM reaches 43%, the ratio of male to female children is 1:8. The anomaly has a polyetiological nature: genetic, infectious, teratogenic and tumor factors, among which infectious factors predominate (50%). Experimental studies have confirmed the role of toxoplasmosis, syphilis, cytomegalovirus infection, mumps and influenza.

In a certain part of observations, the cause of stenosis of the cerebral aqueduct is a genetic pathology, which can be inherited in a recessive manner linked to the X chromosome. Sex-linked inheritance is referred to as rare reasons SVM, since it occurs with a frequency of 1 case per 200 siblings of probands with hydrocephalus. However, it is possible that this type of inheritance accounts for 25% among male children. It is believed that glioma, meningioma, neurofibromatosis and tuberous sclerosis lead to aqueductal stenosis due to a compression mechanism, and open hydrocephalus - as a result of white matter edema and external compression. Combined anomalies occur in 16% of children.

Diagnosis of this form of hydrocephalus is based on the detection of enlargement of the lateral and third ventricles by ultrasound examination with unchanged dimensions of the fourth ventricle. It is necessary to carefully scan the fetal spine to exclude sex-related anomalies (Fig. 1).

Rice. 1. Pregnancy 21 weeks. Obstructive hydrocephalus

Forecast: mortality in childhood fluctuates between 11-30%; intellectual development may be normal.

Obstetric tactics: before the fetus reaches viability, termination of pregnancy is indicated; upon diagnosis in late dates The method of delivery is determined solely by obstetric indications.

Open hydrocephalus(OH) - expansion of the ventricles of the brain and its subarachnoid system as a result of obstruction of the extraventricular system of the cerebrospinal fluid outflow tracts.

Open hydrocephalus is the second most common, accounting for 38% of all cases of hydrocephalus. The etiology of OH is not specified. OH is detected in children with spinal defects and obliteration of the anterior sagittal sinus, subarachnoid hemorrhages, choroid plexus papilloma and the absence of Paccioni granulations. Subarachnoid hemorrhage is the most common cause open hydrocephalus in newborns; in the prenatal period it is extremely rare. It is also rarely inherited, although the frequency of repetition reaches 1-2%, which is significantly higher than in the general population.

Pathogenesis: mechanical obstruction of the extraventricular system of the brain and impaired reabsorption of CSF lead to expansion of the subarachnoid space, and then the cerebral ventricles; internal hydrocephalus develops against the background of obstruction of the cerebral aqueduct due to increased intracranial pressure.

Prenatal diagnosis of OH is carried out using dynamic ultrasound scanning. In this case, a pathognomonic sign is the expansion of the subarachnoid cistern.

Forecast: The mortality rate reaches 11%. Most surviving children retain normal intelligence. When OH is combined with neural tube defects or choroid plexus papilloma, the prognosis is more unfavorable.

Obstetric tactics: in the early stages of detection of OH, termination of pregnancy is indicated; in full-term pregnancy, childbirth is carried out through the natural birth canal.

For Dandy-Walker syndrome Typically a combination of the following anomalies:

1) hydrocephalus of varying degrees;

2) cysts of the posterior cranial fossa;

3) defects of the cerebellar vermis, through which the cyst communicates with the cavity of the fourth ventricle.

The syndrome occurs in 12% of children with congenital hydrocephalus. Etiology unknown. This syndrome can be one of the manifestations of genetic diseases (Meckel and Warburg syndromes), and can also be detected with chromosomal aberrations (Turner syndrome, 6p-, 9gh+, trisomy 9, triploidy). In rare cases, autosomal recessive inheritance is possible with a risk of recurrence of up to 25%.

Pathoembryogenesis. According to the Dandy-Walker theory, atresia of the foramina of Luschka and Magendie usually leads to dilation of the ventricular system. The syndrome is a complex anomaly of the development of the midline structures of the brain in the region of the rhomboid fossa. Hypoplasia of the cerebellar vermis and cysts of the postcranial fossa occur secondaryly, due to compression by the sharply dilated fourth ventricle. There is also an imbalance in the production of cerebrospinal fluid in the lateral, third and fourth ventricles. The brain worm defect varies from complete aplasia to slight clefting. Despite the fact that hydrocephalus is the main diagnostic sign of Dandy-Walker syndrome, in most children it is absent at the time of birth; however, it manifests itself in the first months of the child’s life.

The syndrome is often (in more than 50% of cases) combined with other malformations of the central nervous system (agenesis of the corpus callosum, encephalocele), kidney defects (polycystic disease) and heart defects (ventricular septal defect).

Diagnostics: this anomaly is indicated by the detection of cystic formations in the posterior cranial fossa during echography; The pathognomonic acoustic sign of the syndrome is a defect in the vermis of the brain, through which the cyst communicates with the fourth ventricle.

Forecast unfavorable: mortality reaches 50%, 50-60% of surviving children have delayed intellectual development.

Obstetric tactics: termination of pregnancy is carried out at any time.

Choroid plexus papilloma(PSS). Intracranial neoplasm occurs with a frequency of 0.6% of all brain tumors detected in adults and 3% in children. Papilloma can be localized in any part of the ventricular system, but is more often found at the level of the vestibule of the lateral ventricles. Unilateral localization of the tumor is typical, although a bilateral process cannot be ruled out. Most often, PSS is represented by villous tissue, histologically similar to the tissue of the intact choroid plexus, and is benign in nature. However, malignancy of the tumor with invasion into adjacent nervous tissue is possible. Choroid plexus papilloma is usually combined with hydrocephalus.

Etiology unknown. In world practice, there are isolated observations of PSS in patients with Aicardi syndrome (this disease is linked to the X chromosome and is characterized by agenesis of the corpus callosum, chorioretinal lacunae, spinal abnormalities, epilepsy and mental retardation).

PSS is diagnosed in children with hydrocephalus during neurosonography or x-ray examination. In childhood, contrast computed tomography should be considered the method of choice. As a method prenatal diagnostics The most informative is ultrasound scanning. Echographic criteria for PSS are asymmetry of the shape and size of the contralateral ventricles, visualization of weakly echogenic formations adjacent to the normal choroid plexus in the vestibule of the lateral ventricles. Prenatally, PSS of the third and fourth ventricles is not detected.

The method of choosing therapy for PSS is surgical removal tumors. If the process is benign, surgical treatment can have a favorable outcome, but the operation is technically complex and is accompanied by large blood loss. In case of malignant lesions (in more than 20% of cases), the prognosis is unfavorable. The mortality rate for PSS reaches 35%, and 72% of surviving children have mental and mental development defects of varying severity.

Obstetric tactics: childbirth is carried out through the natural birth canal; the use of vaginal delivery operations is contraindicated. Delivery in large perinatal centers is recommended, where emergency neonatological and pediatric neurosurgical care can be provided. Question about usage caesarean section in order to reduce the risk of birth trauma with intracranial hemorrhage has not been completely resolved.

Selected lectures on obstetrics and gynecology

Ed. A.N. Strizhakova, A.I. Davydova, L.D. Belotserkovtseva

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

The statistics are frightening; against the backdrop of declining child 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 birth defects 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), spina bifida (open herniation of the spinal cord), malformations of the cardiovascular system (heart defects, etc.), limb defects - atresia (absence), maxillary -facial deformities - cleft lip, cleft palate and much more.

Causes of congenital malformation of the fetus

The reasons that cause 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 a lack of vitamins in the diet of a pregnant woman, in particular folic acid. The recommended micronutrient intake for a pregnant woman is one and a half times greater than for women of childbearing age. And this is no coincidence - the health of the child depends on it both when he is in the womb and after his birth.

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

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

Key Factor: Folic Acid

The leading role in the prevention of congenital malformations in the fetus is folic acid. It is necessary for cell division, growth and development of all organs and tissues, normal development of the embryo, and hematopoietic processes. Folic acid prevents the occurrence of premature birth and rupture of the amniotic membrane.

This vitamin ensures the necessary speed 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 developing congenital defects in the fetus, in particular neural tube defects, hydrocephalus and anencephaly. To prevent neural tube development in the embryo, a woman should take at least 800 mcg (0.8 mg) of folic acid daily both before and throughout pregnancy.

A number of countries, such as Argentina and Türkiye, are already implementing government programs to prevent congenital developmental pathologies. They consist of an educational part that explains to medical specialists and women themselves how to prevent fetal malformations and an incentive 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 and microelements and in this case no additional multivitamin complexes are required. However, according to European data, vitamin deficiency in pregnant women is 20-30%, even with the most balanced and varied diet.

Modern research, regularly conducted in recent years by the Russian Academy of Medical Sciences, has shown that the diet of a modern woman, made up of natural products, quite adequate to our energy consumption and even excess in calorie content, is unable to provide the body with the necessary amount of vitamins during pregnancy and lactation.

More detailed information can be found on the website elevite.ru

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

Congenital malformation - a persistent morphological change that has occurred in utero in an organ, organ system, part of the body or the entire organism, going beyond structural variations and disrupting its function. Developmental defects that are not accompanied by functional impairments are more often called congenital minor anomalies– stigmas of dysembryogenesis (for example, deformations of the auricles - not disfiguring the patient’s face and not significantly affecting the perception of sounds).

Congenital defects include the following morphological developmental disorders:

AGENESIS- complete congenital absence of an organ.

APLASIA- congenital absence of an organ with the presence of its vascular pedicle.

CONGENITAL HYPOPLASIA- underdevelopment of an organ, manifested by a deficiency in the relative mass or size of the organ, exceeding a two-sigma deviation from the average for this age.

CONGENITAL HYPOTROPHY- reduction in body weight of the fetus or newborn. In older children, the term “nanism” is used (dwarfism, microsomia, nanosomia).

CONGENITAL HYPERTROPHY- increased relative mass (or size) of an organ due to an increase in the number (hyperplasia) or volume (hypertrophy) of cells.

MACROSOMIA(gigantism) - increased body length.

HETEROTOPY- the presence of cells, tissues or entire sections of an organ in another organ or in the same areas of the same organ where they should not be.

HETEROPLASIA- impaired differentiation of certain tissue types.

ECTOPY- displacement of the organ, i.e. its location is in an unusual place.

DOUBLING- an increase in the number of one or another organ or part thereof. The particle “poly-” (polydactyly) is often used.

ATRESIA- complete absence of a channel or natural opening.

STENOSIS- narrowing of the canal or opening.

NON-SEPARATION(fusion) of organs or two symmetrical or asymmetrically developed identical twins. The particle “syn-” (syndactyly) is used.

PERSISTENCE- preservation of embryonic structures that normally disappear by a certain period of development (open oval window or ductus arteriosus in a child older than three months). One of the forms of persistence is dysraphism - non-closure of the embryonic fissure (cleft lip, palate, spine, urethra).

DYSCHRONIA- violation of the pace (acceleration or slowdown) of development.

According to etiology It is advisable to distinguish three main groups of defects:

Hereditary- defects resulting from mutations (persistent changes in hereditary structures) in gametes or (less often) zygote. Depending on the level of mutation, defects are divided into genetic and chromosomal.

Exogenous- defects caused by the action of teratogenic factors directly on the embryo or fetus. Teratogenic congenital malignancies can phenotypically resemble (copy) genetically determined congenital malignancies; in such cases they are called phenocopies.

Multifactorial- congenital malformations resulting from the combined influence of genetic and exogenous factors, and none of them alone is the cause of the development of the defect. Obviously, such a division is somewhat arbitrary, since the gene and chromosomal mutations underlying hereditary defects are also induced by various factors.

Depending depending on the time of exposure to factors, inducing the development of a defect, all congenital defects can be divided into:

Gametopathies - damage at the level of germ cells - gametes.

Blastopathy - damage to the blastocyst, i.e. embryo 15 days after fertilization.

Embryopathies - congenital malformations resulting from damage to the embryo (exposure to a damaging factor in the period from the 16th day after fertilization to the end of the 8th week.

Fetopathies - damage to the fetus (week 9 - end of labor).

Depending from the sequence of occurrence distinguish:

primary - directly caused by the influence of a teratogenic factor (genetic or exogenous).

secondary - are a complication of the primary ones and are always pathogenetically associated with them (for example, atresia of the cerebral aqueduct (primary defect), leading to the development of hydrocephalus (secondary) or spina bifida (primary), accompanied by clubfoot (secondary). The named hydrocephalus and clubfoot can also be primary defects , their occurrence will be directly related to the effects of damaging factors or gene mutations.

Isolating primary defects from the complex of developmental disorders found in a child is of great importance for medical genetic prognosis, since the risk is determined by the main defect.

By prevalence In the body, it is advisable to divide primary congenital malignancies into:

isolated (single, local) - localized in one organ (for example, pyloric stenosis or persistence of the ductus arteriosus);

systemic - defects within one system (for example, chondrodysplasia, arthrogrypposis);

multiple - defects localized in the organs of two or more systems.

The most common classification isolated and systemic VPR is a classification based not on the etiological, but on the anatomical and physiological principle of dividing the human body into organ systems. It is on this principle that the WHO classification is built, recommended for taking into account diseases and causes of death, adopted by the XXIX World Health Assembly in 1975. It is advisable to subdivide multiple congenital malformations according to the etiological principle. Thus, the following is proposed

VPR classification:

A.Congenital malformations of organs and systems:

Defects of the central nervous system and sensory organs

Defects of the face and neck

Defects of the cardiovascular system

Respiratory system defects

Defects of the digestive organs

Defects of the musculoskeletal system

Urinary system defects

Genital defects

Defects of the endocrine glands

Defects of the skin and its appendages

Defects of the placenta

Other vices

B.Multiple birth defects:

Chromosomal syndromes

Gene syndromes

Syndromes caused by exogenous

factors (multifactorial)

Syndromes of unknown etiology

Multiple defects, unspecified

Basic principles the relationship between the impact of any factors on the fetus and the formation of a defect:

- Teratogen specificity. Teratogenic factor (TF) causes the occurrence of specific congenital malformations or defects of a certain type.

- Time of exposure to TF. There are termination periods for various organs and systems, and only exposure during this critical period will lead to the formation of CM of the corresponding organ, system or series of systems if the termination periods coincide.

- Dose of teratogen. For many TFs, there is a concentration threshold below which the statistical probability of a teratogenic effect is negligible.

- Genetic constitution mother and fetus largely determine resistance to the effects of TF (for example, only 11% of mothers who took diphenylhydantoin during pregnancy developed hydantoin fetal syndrome).

There are teratogenic factors of biological (infectious), physical and chemical nature.

Among biological factors, a significant role belongs to infectious agents (especially TORCH infections):

- toxoplasmosis- impaired fetal growth and brain development;

- syphilis- impaired fetal growth, brain and skeletal development;

- rubella virus- causes cataracts, deafness, mental retardation, congenital heart disease;

- cytomegalovirus- impaired fetal growth, abnormalities of the central nervous system, sometimes

hearing loss only;

- herpes virus- usually does not cause defects, but with prenatal infection

may lead to the development of neonatal encephalitis.

Chemicals and medications:

A alcohol - disrupts fetal growth, leads to the development of brain abnormalities, facial dysmorphism, congenital heart disease (30-40% of children from mothers who often drink alcohol during pregnancy develop fetal alcohol syndrome. The frequency in the population is 1-2: 1000 newborns).

G idantoin - impaired fetal growth, development of skeletal and central nervous system abnormalities

(hydantoin syndrome).

T Alidomide - malformations of the limbs and cleft palate.

R etinoic acid - CD of the brain, ear and heart.

T etracycline - the formation of dark pigment spots on the surface of the teeth.

- Warfarin - bleeding, atrophy of the visual system (warfarin syndrome).

Other drugs - anticonvulsants, anticoagulants, antithyroid drugs,

chemotherapy drugs, iodine-containing substances, lead, lithium, mercury, contraceptives

drugs.

Radiation exposure - TF, which can cause congenital heart disease by disrupting cell division and organogenesis. The nervous system and skull (micro- and hydrocephalus), eyes (cataracts, coloboma) are mainly affected.

Metabolic disorders in the mother:

With diabetes, there is a 10-15% risk of congenital defects of the heart, skeleton, and central nervous system in children.

The main TF is hyperglycemia.

With phenylketonuria, congenital heart defects and central nervous system defects almost always form.

The main TF is the excessive concentration of phenylalanine metabolites.

Mechanical effects on the fetus

Intrauterine (irregular anatomical structure of the uterus, intrauterine tumors or fibroids) - limit the movements and growth of the fetus, which can lead to the development of breech presentation, facial deformities, hip dislocation, clubfoot. With oligohydramnios, hypoplasia of the lungs, facial deformities and other anomalies may occur (Potter syndrome).

External - contribute to the development of disturbances in the blood supply to the fetus, the formation of folds of the amniotic sac (amniotic fusions - Simonard's bands), which can result in hypoplasia of the limbs or transverse amputations (amniotic bands).

One of the pressing problems of pediatrics, clinical genetics and medicine in general is the registration of congenital malignancies, monitoring their frequency, which makes it possible to determine genetic and teratogenic factors of dysmorphogenesis. According to the recommendations of international committees, all CDs that can potentially be identified should be identified, since only this approach makes it possible to detect the connection between environmental changes and the dynamics of the frequency of CDs. In most monitoring systems, it is mandatory to record and record 19 nosological malformations, as well as Down syndrome and a complex of multiple developmental defects (CMDM). The choice of these specific nosological forms is due, firstly, to the relative unambiguity of diagnosis, and secondly, to the fact that all of them are diagnosed while the child is in the maternity hospital, which should contribute to the speed of decision-making with an increase in the frequency of specific congenital malformations in the region. When registering defects, a number of diagnostic difficulties may arise:

Phenotypic similarity of defects that have different causes.

Differential diagnosis of defects affecting close anatomical areas.

Differential diagnosis of isolated and syndromic congenital malformations.

Differential diagnosis of primary and secondary congenital malformations.

The problem of assessing microforms of defects that should not be taken into account as congenital malformations.

We present short descriptionmain VPR(with ICD-10 codes, Class XVII).

Anencephaly - complete or partial absence of the brain, calvarial bones and soft tissues. In this case, the surface of the head forms a disordered mass of cystically altered connective tissue with nervous elements, covered with a transparent membrane. Frequency - 3.3: 10,000 newborns. Q00-Q00.0.

Spina bifida - protrusion of the meninges, roots and substance of the spinal cord through the hole formed as a result of non-fusion of the spine (aplasia of the arches and spinous processes of various numbers of vertebrae). The most common localization is the lumbosacral region, rare - in the cervical region.

Spina bifida are classified depending on the degree of the defect and the contents of the hernial protrusion:

- meningocele- protrusion into the spinal defect of only the membranes of the spinal cord containing cerebrospinal fluid.

M jelomeningocele- involvement of the spinal cord, while it is underdeveloped, with areas of gliosis, and an enlarged central canal.

- full of rakhizhiz- vertebral cleft with a defect in the meninges and soft integument. There is no hernial protrusion, the spinal cord lies open in the area of the defect and has the appearance of a deformed thin plate or groove.

The frequency of the defect is 6.6:10,000 newborns. Q05.

Spina bifida occulta is not taken into account - the mildest form of the defect, manifested by limited skin retraction, hematomas, birthmarks, and hair growth over the affected area of the spine.

Encephalocele - cranial hernias, which are usually located at the junction of the skull bones: between the frontal bones, parietal and temporal, parietal and occipital bones, etc. The defect may have different sizes- from not changing the normal configuration of the skull to significant, when a large part of the brain penetrates into the hole. There are two main forms of cranial hernias:

- meningocele(see above).

- meningoencephalocele.

The frequency of the defect is 1.1:10,000 newborns. Q01.

Encephalocele is not taken into account when combined with spina bifida.

Congenital hydrocephalus (congenital dropsy of the brain) - expansion of the ventricles of the brain and subarachnoid spaces due to excess cerebrospinal fluid. At the same time, the circumference of the skull increases (up to 80-100 cm in diameter), the proportion of the head and body is disrupted (normally, the head circumference is 2 cm larger than the chest circumference), there is a divergence of the sutures and an increase in the size of the fontanel.

The frequency of the defect is 3.9:10,000 newborns. Q03.

Microtia, anotia - abnormal development of the auricle. The most severe form (anotia) is the complete absence of the auricle and auditory canal. The defect is usually right-sided. Frequency - 0.9:10,000. Q16.

Cleft palate (“cleft palate”) - a cleft of the soft and/or hard palate (communication between the nasal cavity and the oral cavity), located in the midline, without a cleft lip or alveolar ridge. There is a cleft full (gap in the soft and hard palate), partial (gap only in the soft or hard palate), through or submucosa.

The frequency of the defect is 5.9:10,000 newborns. Q35.

The submucosal cleft is not recorded.

Cleft lip (“cleft lip”) - defect in the tissue of the upper lip running from the red border to the nose. Often accompanied by cleft palate and a defect of the alveolar process. There are unilateral (usually left-sided) and bilateral cleft lips with or without cleft palate. Frequency - 8.3:10,000 newborns. Q36-Q37.

Transposition of great vessels - the aorta originates from the right ventricle, the pulmonary artery - from the left. In the absence of free shunts (septal defects, patent ductus arteriosus), the defect is incompatible with life. Includes varying degrees of transposition of great vessels and inversion of the cardiac chambers.

The most characteristic clinical manifestations are cyanosis, shortness of breath, heart murmurs over the defect, and convulsions. Most often, the defect is diagnosed at autopsy.

Frequency - 3.2: 10,000 newborns. Q20.3.

Left heart hypoplasia - lethal heart disease, severe underdevelopment of the left ventricle as a result of atresia or stenosis of the aortic or mitral valve, or a combination thereof. Death occurs in the first weeks of life. The diagnosis is made at autopsy. Frequency - 1.3:10,000 newborns. Q23.4.

Esophageal atresia - narrowing or obstruction of the esophagus with or without tracheoesophageal fistula. There are different types of atresia, but in 90% of cases the upper part of the esophagus ends blindly, and the lower part has an anastomosis (fistula) with the trachea.

Clinically manifested by vomiting of uncurdled milk, attacks of choking and coughing during or after feeding the child.

Frequency - 2.9: 10,000 newborns. Q39-Q39.0-Q39.3.

Anal atresia - absence of anus and rectum. May include: absence of an anus (“imperforate anus”), absence of a rectum and/or anal canal, or a combination of both.

An imperforate anus is clinically manifested as a blind ending in a depression or protrusion of pigmented skin. Defects of the upper sections are often accompanied by the formation of fistulas with the urethra, bladder or vagina. With all types of anorectal atresia, defecation is impossible. Without surgical treatment, the defect is incompatible with life. The frequency of the defect is 3.2:10,000 newborns. Q42.0-Q42.3.

Agenesis and dysgenesis of the kidneys - bilateral or unilateral absence of kidneys. Arenia is a defect incompatible with life that leads to the death of a child within the first hours after birth. The frequency of defects is 1.9:10,000 newborns. Q60-Q60.0-Q60.5.

Hypospadias - lower cleft urethra, displacement of the opening of the urethra to the lower surface of the penis, into the scrotum or perineum. A short urethra leads to curvature of the penis. The curvature may also be due to a short urethra.

There are the following forms of hypospadias: coronal, stem, scrotal, perineal. Frequency - 11.0: 10,000 newborns. Q54-Q54.0-Q54.3.

Epispadias - congenital cleft of part or all of the anterior (upper) wall of the urethra. Accompanied by curvature of the penis, pulling it up and retracting it into the surrounding tissues. The following forms are distinguished:

In boys - epispadias of the glans, shaft of the penis and complete epispadias.

In girls - epispadias of the clitoris, incomplete (subsymphyseal - the cleft extends to the posterior wall of the urethra to the neck of the bladder), and complete (retrosymphyseal - the cleft extends to the neck and anterior wall of the bladder).

The defect is not counted when it is part of bladder exstrophy.

Frequency - 1.8:10,000 newborns ( Q64.0.), and in boys 5 times more often than in girls.

Bladder exstrophy - congenital cleft of the bladder and abdominal wall. The defect is manifested by a defect in the anterior abdominal wall, through which the exposed mucous membrane of the posterior wall of the bladder turns outward, while the orifices of the ureters gape. Bladder exstrophy is always accompanied by total epispadias. The frequency of the defect is 0.3:10,000 newborns ( Q64.1), there are 3 times more boys than girls.

Reduction limb defects - a group of defects characterized by a significant variation in clinical manifestations: from the absence of the phalanx of the fingers or individual structures of the limbs to the absence of the entire limb - amelia. The following types of PKK are distinguished:

Transverse - all congenital malformations of the amputation type, at any level of the limb, while the distal parts of the limb are absent.

Longitudinal - reduction of the components of the limb along its longitudinal axis (the tibial or fibular parts of the limb are reduced or absent, the distal parts are completely or partially preserved. The most common form is radial aplasia (“radial clubhand”), often with the absence of the thumb.

Intercalary - a reduction defect in which the long bones of the middle part of the limb are either significantly shortened or absent.

Transverse reductions are often unilateral, while longitudinal and intercalary reductions are often bilateral. The frequency of defects is 5.6:10,000 newborns. Q71, Q72, Q73.

Diaphragmatic hernia - movement of abdominal organs into the chest due to a defect in the diaphragm. There are true and false DGs.

True- hernial sac-like protrusion into the chest cavity of the thinned diaphragm, peritoneum and visceral pleura.

False- there is no hernial sac, and the abdominal organs, moved into the chest through an enlarged natural opening (Bochdalek's or Lorrey's gap) or an embryonic defect in the diaphragm, compress the lungs and mediastinal organs. Without surgical treatment, half of children die in the first week of life.

Frequency - 2.8:10,000 newborns. Q79.0, Q79.1.

Omphalocele (umbilical cord hernia) - a developmental defect of the anterior abdominal wall, in which internal organs penetrate through the defect in the navel area. The umbilical ring is expanded, its dimensions range from 1-2 cm to the size of a massive defect in the entire abdominal wall. The sac-like formation contains loops of intestine and sometimes the liver. The wall of the hernial sac consists of the amnion and elements of the umbilical cord.

Frequency - 2.0: 10,000 newborns. ( Q79.2 When diagnosing, gastroschisis, aplasia and dysplasia of the abdominal muscles are excluded.

Gastroschisis - a defect of the anterior abdominal wall located lateral to the intact navel. Through a small defect (3-5 cm), intestinal loops covered with a fibrous film emerge. Intestinal atresia is often observed.

Frequency - 0.8: 10,000 newborns. Q79.3.

When diagnosing, omphalocele, aplasia and dysplasia of the abdominal muscles are excluded.

Down syndrome - chromosomal disease. Characterized by multiple developmental defects (see section 3). Q90.

Multiple congenital malformations - represent heterogeneous cases of defects of different etiology, localized in the organs of two or more systems.

When diagnosing, exclude MVPR syndromes with a known etiology (for example, monogenic and chromosomal)

The incidence of MVPR is 15.8:10,000 newborns. Q89.7.