Congenital malformations. Women Health

The term "congenital anomalies" or "congenital malformations" refers to any congenital functional or structural pathology that is detected in the fetus and newborn. Malformations may appear in later periods. Depending on the etiology, hereditary (genetic), exogenous and multifactorial congenital malformations of the fetus are distinguished.

Hereditary include congenital malformations arising from gene mutations, which are expressed in the form of embryonic dysmorphogenesis, or chromosomal and genomic mutations (chromosomal diseases). There are persistent changes in hereditary structures in germ cells (mutations can be inherited from one or both parents) and less often in the zygote. Depending on the time of exposure to the teratogenic factor, congenital malformations are the result of gametopathies, blastopathies, embryopathies and fetopathy.

Multifactorial refers to malformations resulting from the combined effects of genetic and exogenous factors.

Genetically determined forms (genetic and chromosomal) make up about 25-30%, exogenous (teratogenic) - 2-5%, multifactorial -

30-40%, forms of unclear etiology - 25-50% of cases of congenital malformations.

Hereditary anomalies in the development of the fetus are divided into chromosomal (most common), monogenic and polygenic.

At the core chromosomal diseases lie chromosomal (changes in the number or structure of chromosomes) or genomic (polyploidy) mutations. Each disease has a typical karyotype and phenotype.

Almost all chromosomal anomalies (except for balanced ones) lead to congenital malformations. Severe forms (polyploidy, complete trisomies for autosomes), as a rule, cause spontaneous abortion in the first trimester.

Down syndrome(trisomy 21) - the most studied chromosomal pathology, occurs with a frequency of 1:600 ​​live births. Cytogenetic variants of Down syndrome are diverse. 94-95% of cases are simple complete trisomy 21 as a result of non-disjunction of chromosomes in meiosis (Fig. 32.8). About 2% of children with Down syndrome have mosaic forms (47+21/46), 4% of patients have a translocation form of trisomy.

Rice. 32.8. Complete trisomy 21

Children with Down syndrome have a specific phenotype - Mongoloid eye cut, round flattened face, flat back of the nose, epicanthus, large (usually protruding) tongue, brachycephaly, deformed and low-lying auricles, excess skin on the neck (Fig. 32.9). Often there are heart defects, gastrointestinal tract, clinodactyly, four-finger (monkey) fold on the palm, two skin folds instead of three on the little finger. There is a delay in physical and mental development.

Rice. 32.9. Phenotype of a newborn with Down syndrome

Frequency patau syndrome(trisomy 13) is 1:7000 live births. In 80-85% of patients, simple complete trisomy 13 occurs as a result of non-disjunction of chromosomes during meiosis in one of the parents (more often in the mother), the remaining cases are mainly due to the transfer of an additional chromosome (its long arm) in Robertsonian translocations of the type D / 13, G / 13.

Patau's syndrome includes disorders in the formation of the brain, eyeballs, bones of the brain and facial parts of the skull. Typical signs of Patau syndrome are cleft lip or palate, microphthalmia, polydactyly, congenital heart defects (Fig. 32.10). Due to severe congenital malformations, most children with Patau syndrome die in the first weeks or months of life.

Rice. 32.10. Phenotype of a newborn with Patau syndrome

Edwards syndrome(trisomy 18) is almost always due to the simple trisomic form. The frequency of Edwards syndrome is 1:5000-1:7000 live births. Newborns with Edwards syndrome have severe malnutrition and multiple malformations of the facial skull, heart, skeletal system, and genital organs. Children with Edwards syndrome usually die at an early age.

Turner syndrome(monosomy 45X0) - the only form of monosomy in live births. Turner syndrome is caused by the absence of one X chromosome in female fetuses. The frequency is 2.5-5.5; 10,000 female live births. Along with true monosomy, there are other chromosomal abnormalities in the sex chromosomes (deletion of the short or long arm of the X chromosome, isochromosomes, ring chromosomes, as well as various types of mosaicism).

Clinically, Turner's syndrome is manifested by hypogonadism, congenital malformations, short stature. Absence of gonads, hypoplasia of the uterus and fallopian tubes, primary amenorrhea are noted, heart and kidney defects occur in 25% of patients. The appearance of patients is quite characteristic, although not always. In newborns and infants, a short neck with excess skin and pterygoid folds, lymphatic edema of the feet, legs, hands and forearms (Fig. 32.11). In the future, there is a lag in growth, in the development of secondary sexual characteristics, bone dysplasia, an antimongoloid incision of the eyes, ptosis, in 90% of cases - infertility. Often there is a delay in mental and intellectual development.

Rice. 32.11. Lymphedema of the foot in a newborn with Turner's syndrome

Monogenic diseases caused by mutations or the absence of a particular gene. Mutations can capture one or both alleles. Clinical manifestations arise as a result of the lack of genetic information or the implementation of a defective one. Monogenic diseases are investigated in full accordance with Mendel's laws (autosomal or linked to

X chromosome). About 5,000 monogenic diseases are known, more than half are inherited in an autosomal dominant manner.

This group of diseases includes:

Neurofibromatosis (Recklinghausen's disease), in which the nervous system is most severely affected;

Myotonic dystrophy with myotonia, muscle weakness, cataracts, cardiac arrhythmia, impaired glucose tolerance, mental retardation;

Marfan's syndrome is a hereditary connective tissue disease. The most specific features are skeletal disorders, lens luxation, cardiovascular changes, dural ectasia;

Ehlers-Danlos syndrome - congenital hyperextensibility of connective tissue due to impaired collagen synthesis caused by mutations in various collagen genes;

Phenylketonuria associated with deficiency of the liver enzyme phenylalanine hydroxylase, the locus of which is located in the long arm of chromosome 12. Children with phenylketonuria are born healthy, but in the very first weeks after birth, due to the intake of phenylalanine in the body with mother's milk, clinical manifestations of the disease develop: increased excitability, hyperreflexia , increased muscle tone, convulsive epileptiform seizures; the child emits a "mouse" smell. Later, mental retardation, microcephaly develop;

Cystic fibrosis (cystic fibrosis), which is based on a violation of the transport of chloride and sodium ions through cell membranes (the cystic fibrosis gene is localized on chromosome 7), which leads to excessive excretion of chlorides. There is hypersecretion of thick mucus in the cells of the endocrine part of the pancreas, the epithelium of the bronchi, the mucous membrane of the gastrointestinal tract;

Adrenogenital syndrome (congenital hyperplasia of the adrenal cortex) belongs to the group of hereditary disorders of the synthesis of steroid hormones. The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency, the gene is located on the short arm of chromosome 6;

Duchenne myopathy caused by a mutation in the gene responsible for the synthesis of the dystrophin protein (the gene is located at the Xq21 locus). The disease is manifested by progressive muscle weakness, dystrophy and necrosis of individual muscle fibers;

Hemophilia A is an X-linked disease, the gene is located at the Xq28 locus, the gene mutation causes factor VIII deficiency. Clinical manifestations consist in violation of hemostasis, an increase in clotting time.

Polygenic diseases due to the interaction of certain combinations of alleles of different loci and exogenous factors. Diseases are controlled by several genes at once, do not obey the laws of Mendel and do not correspond to the classical types of autosomal dominant, autosomal recessive and X-linked inheritance. The manifestation of a trait largely depends on exogenous factors.

The genetic risk of polygenic diseases depends to a large extent on family predisposition and on the severity of the disease in the parents. The genetic risk of polygenic diseases is calculated using empirical risk tables. It is often difficult to determine the prognosis.

Polygenic diseases include congenital malformations that are not caused by chromosomal pathology. From a clinical point of view, there are isolated (localized in one organ), systemic (within one organ system) and multiple (in organs of two or more systems) congenital malformations.

Most common malformations of the CNS.

Anencephaly- the absence of the cerebral hemispheres and the cranial vault (Fig. 32.12). This pathology occurs with a frequency of 1:1000 newborns. Acrania (absence of the cranial vault in the presence of brain tissue) is much less common.

Rice. 32.12. Anencephaly. A - echogram, pregnancy 13 weeks; B - newborn phenotype

Anencephaly is often associated with cleft lip and palate, anomalies of the ears and nose, heart defects, pathology of the gastrointestinal tract and the genitourinary system. Anencephaly and acrania are lethal malformations, so a woman is advised to terminate the pregnancy.

Cephalocele develops as a result of non-closure of the neural tube, occurs at the stage of 4 weeks of intrauterine life and represents the exit of the meninges through a defect in the bones of the skull. When brain tissue is included in the hernial sac, the anomaly is called an encephalocele. The frequency of the defect is 1:2000 live births.

Cephalocele is often associated with chromosome pathology (trisomy 13, 18, unbalanced translocations), is part of many genetic syndromes.

spinal hernia (spina bifida) - anomaly of the spinal column as a result of a violation of the closure of the neural tube. A malformation in which only the membranes of the spinal cord come out through a defect in the spine is called a meningocele. If the hernial sac contains nerve tissue, then the formation is called meningomyelocele. The lumbar and sacral spine are the most frequent localization of defects. Distinguish spina bifida cystica (with the formation of a hernial sac) (Fig. 32.13) and spina bifida occulta, which is not accompanied by a hernial protrusion. The frequency varies depending on the geographical region and ranges from 0.5:1000 to 4:1000 newborns.

Rice. 32.13. Spinal hernia. A - echogram, pregnancy 17 weeks; B - a newborn with a cystic form of spinal hernia

Neural tube defects (anencephaly, cephalocele, spina bifida) - multifactorial anomalies that can form at 4-6 weeks of embryonic development as a result of hyperthermia in the mother, diabetes, when the fetus is exposed to a number of teratogenic agents in the early stages (valproic acid, aminopterin, methotrexate), with chromosomal abnormalities (trisomy 13 , 18, triploidy, tetraploidy, deletions, unbalanced translocations), and is also associated with more than 40 syndromes of multiple malformations.

If neural tube defects are detected before the fetus reaches viability, the patient should be offered termination of pregnancy.

For the prevention of neural tube defects, it is recommended to take folic acid 4 mg / day 3 months before pregnancy, followed by up to 6-7 weeks.

Hydrocephalus- an increase in the ventricles of the brain with a simultaneous increase in intracranial pressure, accompanied by an increase in the head. Isolated enlargement of the ventricles without enlargement of the head is termed "ventriculomegaly". The frequency of hydrocephalus is 0.1:1000-2.5:1000 newborns.

Hydrocephalus and ventriculomegaly, as a rule, develop in the II-III trimesters of pregnancy as a result of a violation of the outflow of cerebrospinal fluid, which leads to an increase in intracranial pressure. Rarely, hydrocephalus is caused by increased production of cerebrospinal fluid (vascular plexus papillomas).

Hydrocephalus accompanies many chromosomal, monogenic diseases, syndrome of multiple malformations, skeletal dysplasia.

When diagnosing this malformation before the viability of the fetus, termination of pregnancy is indicated. In the absence of chromosomal pathology in the fetus and pronounced combined anomalies, prolongation of pregnancy with ultrasound monitoring of the increase in hydrocephalus is possible.

Anomalies of facial structures. Cleft face is formed between the 4th and 10th week of gestation with incomplete fusion of the frontonasal structures with paired maxillary and mandibular tubercles. Allocate an isolated cleft lip or in combination with a cleft palate (the most common anomaly of the facial structures) (Fig. 32.14), as well as an isolated cleft palate (a rare anomaly). The cleft can be located in the middle, be one or two-sided. The frequency is 1:800 live births.

Rice. 32.14. Newborn with cleft lip and palate

Facial clefts are often combined with other developmental anomalies. The occurrence of facial clefts is associated with exogenous factors (alcohol, phenytoin, trimethadione, methotrexate), as well as with insulin-dependent diabetes mellitus in the mother.

Facial clefts can be diagnosed with ultrasound from the end of the first trimester of pregnancy. The 3D image helps to clarify the diagnosis. Prenatal examination should include karyotyping and a thorough examination (anatomy of the face, brain, heart, skeleton).

Taking folic acid a few months before pregnancy reduces the risk of facial clefts.

Anomalies of the chest. congenital diaphragmatic hernia occurs as a result of slowing down the closure of the pleuroperitoneal canal. A diaphragm defect leads to the movement of the abdominal organs (stomach, intestines, liver, spleen) into the chest cavity with mediastinal displacement and compression of the lungs (pulmonary hypoplasia).

Diaphragmatic hernia is often combined with heart defects, as well as with chromosomal (trisomy 13, 18) and gene anomalies.

Ultrasound diagnosis is possible from the end of the first trimester of pregnancy. Prenatal examination should include fetal karyotyping.

With a normal karyotype of the fetus, the absence of combined anomalies, the pregnancy is prolonged. Intrauterine surgical correction of this defect is possible (no later than the II trimester).

The course of the neonatal period in children with congenital diaphragmatic hernia depends on the severity of pulmonary hypoplasia and secondary pulmonary hypertension.

Congenital cystic-adenomatous malformation of the lungs- lung hamartoma, which is a cystic, solid or mixed mass in the fetal chest, sometimes accompanied by dropsy of the fetus; often combined with heart defects, cystic changes in the kidneys, cleft palate and ventriculomegaly.

If the defect is represented by large cysts, intrauterine invasive intervention is possible - thoracoamniotic shunting to prevent lung hypoplasia. Often, surgical correction is required in the neonatal period.

Pulmonary sequestration is a part of the lung that develops out of touch with the airways and is a rare malformation. The sequestered part of the lung usually has its own blood supply from a vessel that originates directly from the aorta. Most often, pulmonary sequestration is combined with non-immune dropsy.

On ultrasound, pulmonary sequestration is visualized as a solid mass near the diaphragm. Color Doppler imaging helps to identify the blood supply to the sequestered lung.

Surgical treatment of a child after birth is a segmentectomy or lobectomy of the affected lung.

Heart defects. The frequency of congenital heart defects in newborns is 0.5-1%. Congenital heart defects, the diagnosis of which in most cases is possible already in the prenatal period, include a single ventricle, ectopia of the heart, defects in the interatrial and interventricular septa, hypoplastic syndrome of the left heart, atrioventricular canal, Ebstein's anomaly, Fallot's tetralogy, transposition of the great vessels, arterial trunk, stenosis and coarctation of the aorta, stenosis and atresia of the pulmonary artery, tumors of the heart. Congenital heart defects are often combined with other defects, as well as with chromosomal (trisomy) and monogenic diseases.

The risk of congenital heart defects in the fetus is increased in decompensated diabetes mellitus, systemic lupus erythematosus, phenylketonuria, congenital heart defects in the mother. 2% of all congenital heart defects are associated with the rubella virus, alcohol, trimetadione.

The most informative method for antenatal diagnosis of fetal congenital heart defects is an echocardiographic study, starting from the second trimester of pregnancy. If congenital heart disease is detected, fetal karyotyping is performed. With combined defects and genetic abnormalities, termination of pregnancy at any time is indicated. With a normal fetal karyotype, the management of a pregnant woman is determined by the possibility of surgical correction of heart disease in a child. The curability of the defect is determined by a pediatric cardiac surgeon before and after the birth of a child.

Malformations of the gastrointestinal tract. Congenital malformations of the gastrointestinal tract include esophageal atresia, duodenal atresia, atresia and stenosis of the small and large intestine, anus atresia, meconium peritonitis.

duodenal atresia is the most common congenital obstructive lesion of the small intestine, the frequency of this anomaly is 1:10,000 live births. In 30-40% of fetuses with duodenal atresia, trisomy 21 and associated anomalies (congenital heart and urinary system defects, other anomalies of the gastrointestinal tract, spinal defects) are diagnosed.

Diagnosis of the defect is possible in the II and III trimesters of pregnancy. The main ultrasound signs of duodenal atresia: polyhydramnios and the classic sign " double bubble" in the abdominal cavity of the fetus (Fig. 32.15). The image of the "double bubble" is due to the expansion of the stomach and proximal duodenum.

Rice. 32.15. Duodenal atresia ("double bubble") in the fetus, pregnancy 25 weeks, echogram

If duodenal atresia is suspected, fetal karyotyping and a thorough examination of the entire fetal ultrasound anatomy, including echocardiography, are indicated. With a normal karyotype and an isolated anomaly, it is possible to prolong pregnancy with subsequent surgical correction of the malformation in the newborn.

Malformations of the anterior abdominal wall. Gastroschisis- paraumbilical defect of the anterior abdominal wall of the fetus with eventration of the abdominal organs (usually the intestines). As a rule, the defect is located to the right of the navel, the hernial organs "float" freely in the amniotic fluid. The frequency is 1:10,000 live births.

In 10-30% of cases, gastroschisis is combined with intestinal atresia and stenosis, congenital heart and urinary system defects, hydrocephalus, low and polyhydramnios.

Ultrasound diagnosis of gastroschisis is not difficult, the diagnosis is usually made in the second trimester of pregnancy (Fig. 32.16). The frequency of chromosomal abnormalities in isolated gastroschisis does not exceed the general population, so karyotyping of the fetus can be omitted.

Rice. 32.16. Gastroschisis in the fetus, pregnancy 25 weeks (A - sonogram, B - phenotype of the newborn)

In order to avoid the development of ischemic changes and infection of the intestines, the child is transferred to a surgical hospital in the next few hours after birth. The operation is usually performed within the first 24 hours after birth. The overall prognosis for a newborn with isolated gastroschisis is favorable - more than 90% of children survive after surgical correction.

Omphalocele- umbilical hernia - is the result of non-return of the abdominal organs from the amniotic cavity through the umbilical ring. The size of the hernial formation is determined by the contents of the hernial sac, which can include any abdominal organs. Unlike gastroschisis, the omphalocele is covered by an amnioperitoneal membrane, along the lateral surface of which the vessels of the umbilical cord pass. The frequency of the defect is 1:3000-1:6000 live births.

Omphalocele is most often combined with congenital heart defects, with defects of the central nervous system, genitourinary system, diaphragmatic hernia, skeletal dysplasia, the only umbilical artery, chromosomal defects (trisomy 13, 18).

In most cases, omphalocele is detected by ultrasound in the second trimester of pregnancy. When an omphalocele is detected, karyotyping of the fetus is indicated, since this malformation has a high frequency of chromosomal aberrations.

After birth, the child needs to be urgently transferred to the surgical department for surgical treatment, which is usually carried out in the first 24-48 hours after birth. The success of surgical treatment depends on the size of the hernial sac, the degree of hypoplasia of the abdominal walls.

Malformations of the genitourinary system. Renal agenesis- Absence of both kidneys.

Ultrasound diagnosis of renal agenesis is possible from 13 weeks of gestation. With echography, the fetal kidneys are not visualized, there is no bladder, pronounced oligohydramnios is noted, and there is often a symmetrical form of fetal growth retardation. For differential diagnosis of agenesis and hypoplasia of the kidneys, it is advisable to use color Doppler mapping: with agenesis of the kidneys, there are no renal arteries.

obstructive uropathy. Possible obstruction of the urinary tract of the fetus at the level of the ureteropelvic fistula (high), at the level of the ureters, at the level of the vesicoureteral fistula, at the level of the urethra (low). The most common cause of obstructive uropathy is high obstruction, accounting for 50% of all congenital urinary tract anomalies.

Ultrasound diagnosis of high obstruction is based on the detection of an enlarged renal pelvis (Fig. 32.17). The degree of hydronephrosis depends on the severity of the obstruction and its duration: the earlier the obstruction is formed, the higher the risk of damage to the renal parenchyma. At lower obstruction, depending on the level, along with hydronephrosis, dilated ureters and bladder, severe oligohydramnios are determined.

Rice. 32.17. Fetal hydronephrosis with high urinary tract obstruction, pregnancy 27 weeks, echogram

In preterm pregnancy in fetuses with severe obstructive uropathy, intrauterine surgical correction is possible to prevent dysplasia and fibrosis of the renal parenchyma (pelvic-amniotic or vesico-amniotic shunting).

In the neonatal period, ultrasound should be repeated to confirm the prenatal diagnosis and assess the urinary tract of the newborn. With confirmed severe urinary tract obstruction, surgical correction is indicated.

Polycystic kidney disease infantile type is manifested by a bilateral increase in the kidneys as a result of the replacement of the parenchyma with hyperplastic and dilated collecting ducts. This is a lethal malformation, its frequency is 3:1000 newborns.

The main echographic signs of the defect are enlarged hyperechoic kidneys, absence of the bladder, and oligohydramnios. A typical echographic picture in some cases may not appear until the third trimester of pregnancy.

The prognosis for life is extremely unfavorable due to the development of renal failure. Obstetric tactics is to terminate the pregnancy at any time.

Multicystic kidney dysplasia- replacement of the renal parenchyma with non-communicating cysts; the ureter and pelvis are often atrezirovany or absent. In most cases, the process is one-way.

Cystic dysplasia of the kidneys can be observed with various chromosomal and gene disorders, so fetal karyotyping is necessary.

Sonographic diagnosis is possible from the second half of pregnancy. In multicystic dysplasia, the kidney is enlarged, represented by multiple cysts with anechoic contents. The size of the cysts reaches 3-4 cm by full-term pregnancy. With bilateral lesions, the bladder is not visualized, oligohydramnios is noted.

Bilateral cystic dysplasia of the kidney is a lethal malformation; at this defect termination of pregnancy is shown. With a unilateral lesion, a normal fetal karyotype, and the absence of concomitant anomalies, the pregnancy is prolonged.

Malformations of the skeletal system. Among the congenital malformations of the skeletal system, the most common are amelia (aplasia of all limbs), phocomelia (underdevelopment of the proximal limbs), polydactyly (an increase in the number of fingers), syndactyly (finger fusion), osteochondrodysplasia (anomalies in the growth and development of cartilage and bones). In some forms of skeletal dysplasia, secondary pulmonary hypoplasia develops due to underdevelopment of the ribs and a decrease in the size of the chest.

Achondroplasia- one of the most common non-lethal skeletal dysplasia, is osteochondrodysplasia with defects in the tubular bones and the axial skeleton. This is the most common cause of dwarfism (the height of an adult with achondroplasia is 106-140 cm). Frequency 2:10,000 newborns.

Ultrasound diagnosis is possible in the II trimester of pregnancy. Achondroplasia can be suspected with a significant lag in the growth rate of the femur. The classic sonographic picture includes a sharp shortening of the limbs, a small chest, macrocephaly, and a saddle nose.

The prognosis for life is relatively favorable in the absence of pulmonary hypoplasia. Intellectual development may be normal, but the risk of neurological disorders is increased due to compression of the spinal cord at the level of the foramen magnum.

Polydactyly- an increase in the number of fingers on the hands and feet. The frequency of polydactyly is 1:2000 births.

Polydactyly can be observed in many chromosomal and gene diseases and skeletal dysplasias. If polydactyly is detected, especially in combination with other anomalies, fetal karyotyping is indicated.

birth defects fetal development(CM) is one of the most threatening complications of 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 frequency of congenital malformations 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 hernia of the spinal cord), malformations of the cardiovascular system (heart defects, etc.), malformations of the limbs - atresia (absence of limbs), maxillofacial deformities - cleft lip, cleft palate and much more.

Why is this happening? 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, taking large doses of alcohol, 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 in the womb, and the health of the newborn depends on it.

Pediatricians believe that, in addition to congenital malformations, newborn diseases such as iron deficiency anemia, rickets, or developmental delays are often associated with the fact that the expectant mother lacked 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, metabolic diseases (primarily diabetes and obesity).

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

Key Factor: Folic Acid

The leading role in the prevention of prevention of the occurrence 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 hematopoiesis processes. prevents the occurrence and rupture of the amniotic membrane.

This vitamin provides 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 malformations in the fetus, in particular neural tube defects, and anencephaly. To prevent neural tube defects in the fetus, 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 child with congenital malformations.

A number of countries are already implementing state programs to prevent congenital developmental pathologies. These programs consist of an educational part explaining to medical professionals and expectant mothers how to prevent the occurrence of fetal malformations, and a stimulating part — compensation of 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 costs and even excessive in calories, is unable to provide the body with the necessary amount of vitamins during pregnancy and feeding. breast.

That is why experts recommend expectant mothers to take specialized vitamin and mineral complexes that compensate for the lack of micronutrients in the diet of a pregnant woman. 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 congenital malformations by 47%.

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

Discussion

What do you think, can electromagnetic radiation be the cause of congenital defects?! How to protect a child? Are there special costumes?

one! Absolutely disgusting handling of facts :(

Comment on the article "Congenital malformations of the fetus"

Recall that the idea to introduce an additional five attestation tests for grade 11 (in addition to the exam) arose in Rosobrnadzor after the Ministry of Education set out to shift the school and students from coaching to unified exams. Indeed, the abolition of graduation examinations and the transfer of entrance exams to the school literally disfigured it. And it's good that the ministry finally paid attention to this. However, the method of solving the problem was chosen 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 classes at school have become meaningless." Video: [link-1]

1) I finally figured out the admission procedures until 2015 and starting from 2015, the logic of calling, and so on.
2) It is interesting about the piecewise linear scale for converting primary to secondary scores in mathematics in the middle part of this scale.
3) Especially interesting - about the experiment with the "general profile" in Vladikavkaz and Birobidzhan.
4) It would be nice to do a transcript for such a long video. 1h45 is a very long time. Moreover, the most interesting and new, starting from the middle of the video, and not from the beginning.

Something he repeats and fantasizes quite frankly. If you listen to him, the Soviet school is like a tsarist gymnasium. So they took and produced teachers of the same quality, only a hundred times more. Yep, 20 years. Teachers, they breed like cats, they are killed, expelled, and there are only more of them.
And my physics teacher from the courtyard school, it turns out, could teach physics. And math is math. And the fact that in the 8th grade I found mistakes behind the scenes at every second lesson. But then I didn’t study mathematics additionally, I just knew how to read and read a school (!!!) textbook in mathematics and for those entering universities in physics. And fse!!!)))
Now, if the teachers also knew how to read, then I could not find mistakes in them. But they could read something at the university if they could actually read, of course. But they didn't know how, they knew how to read aloud, but the meaning slipped away. Like most school teachers, in the 30s, in the 80s, and now.
And if it were not so, then the parents of modern children would have an education. And the school had nothing to do with the education of children, since they would have taught their children to read.
A dangerous dreamer, proceeding in his reasoning from his false fantasies. He wants to sweep everything under the carpet, so that the same illiterate teachers take exams, produce their own kind, and everything looks good on the outside. And he would take entrance exams from those who themselves learned without school, as before.
Does he have students himself? What are the students?
There is only one problem with the USE - predictable questions. If you make them unpredictable, 90 percent will not pass, so they will not, alas. But if they did, the training methodology would immediately change. They would not prepare for questions, they would teach precisely the sciences.

According to METRONEWS, it is indeed possible. Petersburg doctors for the first time performed such a unique operation of a child in the womb. The guarantee for life after a caesarean section for a child was small. And in order to save the life of the baby, this complex operation was performed by experienced surgeons. Examination of a pregnant woman showed that the fetus has a malformation: a violation of the normal development of the brain associated with excessive accumulation of fluid in it (hydrocephalus) and diaphragmatic hernia. AT...

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 almost asymptomatic disease. Vasily Shakhgildyan, Candidate of Medical Sciences, Senior Researcher, Federal Scientific and Methodological Center for the Prevention and Control of AIDS FBSI "Central Research Institute of Epidemiology" of Rospotrebnadzor: "Cytomegalovirus...

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

Discussion

this is a difficult child with all signs of dysembryogenesis, 7 months is still too early to rule out hepatitis C with his data, it’s more like a year and a half, with HIV it can already be understandable. with syphilis it is also necessary to observe also, there you need several anilizations in time.
the fact that no focal symptoms were detected at the time of the EEG does not mean anything, it may develop later. And most likely there are some brain damage. whether they will be compensated or not .. it is not known.
I would only take it if you can't breathe without it or if you have a lot of money and rehabilitation opportunities.
my older half has such a set, and then he is a difficult child.

Well, for a child of a drug addict, he was born with a good height and weight. 3300 and 52 is normal. Contact for HIV and HepS is not yet something to talk about, although the baby is already six months old, a lot can be said from analyzes and forecasts. Sendaktiviya 2-3 fingers - the consequences of taking drugs in the early stages of pregnancy. Corrected by surgery. LLC is also not a sentence, it is small and, most likely, will close. And in general, it is clear that the mother is young, the body is strong, it has reduced the effect of drugs on the fetus to a minimum. I would probably decide on such a child, if I liked it. Although, when I found my daughter, I didn’t care about diagnoses - grab and run.

"Prevention" of the disease by destroying the "patient" Sokolova Nina Aleksandrovna - 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 Yuliya 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...

Medical data indicate that diseases of the urinary system occupy a significant place in the structure of childhood morbidity and disability. Most chronic diseases of the urinary system in adults have their onset in childhood. Abnormal developments of the kidneys and urinary tract account for up to half of all congenital malformations in children. The kidneys play an important role in maintaining the constancy of the "internal environment" of the body. In the fetus, they begin to function already at 3-4 ...

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

Discussion

Well, mine has grown. Now on a par with peers. There is no ZPR at all.

ZPR is not a diagnosis, but a statement of the fact that at the moment this particular child is lagging behind some conditional age norm. Our initial diagnosis was also ZPR, now autism and SV (grade 2).
IMHO, this is not a diagnosis for life, this is a call, something is wrong (I'm not talking about overdiagnosis and / or an error in the diagnosis). You need to look for the reason why the child is lagging behind. Unfortunately, you can’t always find it. Or it is located and the diagnosis sounds different, or the child is just "slow gas" and will catch up with his peers later. By the age of 20-25, everyone somehow levels out, IMHO.
strength to you.

01/21/2011 02:11:16 PM, Olga local

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 for congenital malformations.

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

Discussion

All links to English sites. I could translate some articles, but I need to know which ones are important to you.
And I also gave emails to Russian doctors. They work in the US with adapted children and invite doctors from Russia and Ukraine. I thought that maybe they would advise you on a FAS specialist in Russia. I do not want to give their emails openly, if you need, I will send you in private.

articles for parents of children with FAS
http://www.faslink.org/katoc.htm#PArenting

strategy of behavior with a child with FAS
http://www.come-over.to/FAS/BEAM.htm

Features of infants with FAS
http://come-over.to/FASCRC/

With the help of a high-resolution ultrasound scanner at these stages of pregnancy, dozens of varieties of congenital malformations can be detected ...

Discussion

Hello Anya. Each time the ultrasound was done in a different location. The first one at the 6th week in the LCD, when I got registered, at the same time they cursed. They said that it’s too late to give birth at 30 (this is the second child), the hormonal background at this age is not the same as at 20, and I will have a miscarriage right away. I listened to all this before I had time to take off my trousers and lie down on the couch. The second - in the hospital, where I spent a month without any treatment. This, apparently, was considered "preservation". The doctor who led our ward never once! didn't look at me. They did not say anything bad at the ultrasound and let me hear how the heart beats. Third - again in consultation, fixed the deadline for 2 weeks. The fourth time I went to the medical center. It was at 23 weeks. There was a wonderful uncle there. Reassured, answered all questions. Checked for arms and legs and everything else, Paul said. And the last at 33 weeks - on the basis of the maternity hospital. They didn't say anything either. I thought that if our families had no physical deformities before, there were no alcoholics and drug addicts, and we were quite sane people, then the child would be normal. Moreover, I felt great from the first to the last day. I gave birth at the Research Institute of Motherhood and Childhood (for a fee) and there the cardiologist said that this kind of heart disease is quite common and its cause is my chronic anemia. We even have hope that we can do without surgery. And here's something else. When I was expecting my first child, I was never sent for an ultrasound scan. I can’t even imagine why it happened, because at almost every appointment I complained about feeling unwell, there was a terrible toxicosis, a huge weight gain. The doctor paid no attention to it. And I was always sure that the child would be normal.
If we talk about advice - do it, but where you will trust the results. After all, everyone has a different willingness to engage in the treatment and upbringing of a disabled child. For example, I would not be able to nurse for 9 months, knowing that there is "not a mouse, not a frog ...", but I have a friend who was warned that it was better to have an abortion, she refused. The child does not have hands and feet, more precisely, these are stumps and each has one process resembling a finger. She raised him. The guy is artistically gifted. He draws THAT! And in everyday life he is completely independent, cooks, cleans.

Mental retardation threatens not weak, as I understand it. I also heard from the head doctor of the orphanage the phrase that drug addicts are better than alcoholics.

09/26/2005 10:49:27 AM, Lindaa

My child psychology professor recently filed for adoption. She said "we agree to take the child with the consequences of the parents taking drugs, but not alcohol." We just went through the alcoholic syndrome. Even a slight sepen is almost always a mental disability :(

Perineal lesion of the central nervous system, mixed genesis, intrauterine growth retardation syndrome, congenital heart disease...

Discussion

"congenital heart disease (ventricular septal defect in the muscular part)" - my diagnosis was before 6 years old, it was removed at 6 years old, it grew together, but I could not fully engage in sports until the end of school (running, very active games). But in general, nothing special, after school everything is fine. Don't worry, if the defect is not large, then no operations or treatment is necessary, only regular cardiograms and pictures. I don't know anything about other diseases.

Of the normal diagnoses, congenital heart disease. Just find out if she had it at birth, or they were also examined later. You can live, probably physical activity is limited. it almost overgrown with them, it remained quite small, they were just observed by a cardiologist and did not have an operation. But what does this mean, it is necessary to examine, nevertheless the heart is a necessary thing in life.

06/29/2005 02:32:09 PM, Lindaa

And congenital non-hereditary.

Congenital hereditary developmental anomalies

As a result of many years of research in Russia and abroad, it has been established that about 20% of all congenital developmental anomalies (malformations) are hereditary and appear during the embryonic development of the fetus from parents with abnormalities in chromosomes and genes. About 10% of anomalies are caused by bad habits and the use of certain substances (alcohol, drugs and certain drugs), poor ecology, and for the remaining 70% of deformities, the causes have not been established.

Every woman wants to give birth to a healthy and beautiful child. In order to avoid congenital malformations, it is necessary to know the causes of their occurrence.

Currently, hundreds of chemical reagents have been identified that can cause damage to chromosomes or genes in parents and provoke intrauterine malformations of the fetus.

Anomalies of development can be different: the complete absence of any organ (for example, the kidney), underdevelopment of the organ (its small size and mass), too much development of the organ (for example, too large size and mass of the brain - macrocephaly). In all cases, these deviations adversely affect the physical and mental development of the child, and often lead to his death.

In addition, the structure (narrowing of the intestines, esophagus, underdevelopment of heart valves, etc.), the shape and number of organs (for example, a decrease or increase in the number of fingers and toes, the appearance of extra internal organs, such as an extra kidney and etc.) or an insufficient number of paired organs (for example, one eye or one kidney).

The result of these deviations is early infant mortality (up to 20% of all infant deaths). It is noted that in recent years the percentage of intrauterine fetal anomalies has been steadily increasing.

Not all childhood developmental anomalies appear at an early age. Some of them appear only at the time of puberty or later.

In addition, anomalies can manifest themselves in a metabolic disorder of the child - in the absence of any enzyme, etc.

All violations of intrauterine development of a child are conditionally divided into 5 groups: anatomical, physiological, functional, biochemical and mental.

Of all the violations of intrauterine development of the fetus, the most dangerous are diseases associated with a violation of the structure of chromosomes or their number in cells. Most of these anomalies lead to fetal death or the birth of a non-viable child.

Down syndrome

This is the most common hereditary disease (about 1 in 800 newborns). It is a consequence of a violation of the number of chromosomes in cells (instead of 46 chromosomes, a child has 47 chromosomes in the genotype). This disease affects both girls and boys.

Most often, a child with Down syndrome is born from an elderly mother or father (over 40 years old). This syndrome is detected in the early stages of pregnancy using ultrasound and other methods, but the accuracy of the examination is 95% (the remaining 5% is an erroneous diagnosis). To date, the most accurate diagnosis of this disease (up to 99.8%) is given by the study of amniotic fluid. If this pathology is detected in the fetus, the parents themselves have the right to decide whether to leave this child to them or not.

Characteristic external signs of Down syndrome: a crease at the inner corner of the eye, a flat face and back of the head, a small nose, a large tongue, an open mouth, a short neck and a skin fold on the neck, shortened limbs and fingers, muscle weakness, strabismus may be observed. Such children also have heart and duodenal defects, mental retardation.

Expectant mothers need to know that before having an abortion when a child has Down syndrome, you need to think carefully. Such children are very affectionate, kind, and the degree of their dementia varies greatly. At present, such children, although more slowly than healthy children, can be taught by special methods. They begin to walk, talk, read and write. People with this disease marry and live to old age, but such people need to keep in mind that the likelihood of developing this syndrome in their children increases to 50%.

Edwards syndrome

This is the second most common hereditary disease after Down's disease associated with the presence of an extra chromosome in the cells. With this disease, the fetus develops multiple defects. Most often, this syndrome occurs in children born to elderly mothers, mainly in girls. Such a child has a violation of the size of the bones of the skull, sternum, foot, body proportions. In addition, there may be no external auditory meatus, there are heart and blood vessel defects, anomalies in the development of the brain, cerebellum, and mental retardation. These children, as a rule, are not viable and die before the age of 3 months, rarely - before 1 year. Very rarely, such children live longer, but they are all oligophrenics (mentally retarded).

Klinefelter syndrome

This is a fairly common hereditary disease caused by a change in the number of chromosomes. This syndrome develops only in boys born to elderly mothers. This disease manifests itself only during the period of puberty of the child; he has an underdevelopment of the testicles, there are no or a reduced number of spermatozoa in the semen, infertility develops. The external development of the boy according to the female type: narrow shoulders, wide pelvis, long legs, enlarged mammary glands. Mental and intellectual deviations can be noted. If the first signs of this disease are found, you should immediately consult a doctor to start treatment (most often hormonal).

Hemophilia

This hereditary disease is transmitted to the child from the mother. This disease appears only in boys. With hemophilia, blood clotting is impaired. With appropriate treatment, this disease is not a sentence.

cystic fibrosis

This is the most common hereditary systemic disease.

Cystic fibrosis affects the respiratory and digestive systems, as well as the liver, pancreas, and sex glands. Mucus accumulates in large quantities in the body, a painful cough occurs, wheezing in the lungs, the heart is affected, the pancreatic ducts are clogged, diarrhea is replaced by constipation, the stomach is swollen, children grow poorly and gain weight, limbs are thin, with a characteristic shape of fingers, the chest is deformed, skin tastes salty (when licked). The mental development of such patients is normal, and sometimes even above average. This severe congenital disease is currently not cured completely, but with proper supportive therapy, such patients can live a long and full life. They must receive certain medications for life.

Phenylketonuria

This disease is a consequence of a violation in the child of the exchange of the amino acid phenylalanine, as a result of which there is a delay in his physical and mental development. This disease is detected in the first days of a child's life. It is not a judgment. With the appointment of a special diet, the development of this disease can be prevented.

color blindness

This hereditary disease is transmitted from mother to son and manifests itself in the fact that the child does not distinguish between some colors (that is, color vision is partially impaired), most often red and green. This disease has no cure.

"Hare Lip"

This developmental anomaly consists in the cleft of the upper lip, which prevents the baby from sucking. Treatment - surgical, in the first months of a child's life. This deformity can be provoked by a lack of food in a pregnant woman.

"Cleft palate"

This is a non-fusion of the upper jaw and hard palate, as a result of which the oral cavity is not separated from the nasal cavity. This defect causes food to enter the windpipe and nasal cavity. Very often, the cleft palate is observed in conjunction with the cleft lip. Treatment - surgical. The reason for this anomaly in the development of the child may be a lack of food in a pregnant woman.

Polydactyly

Polydactyly - the presence of extra fingers or lack of them on the hand or foot, fusion of fingers together, shortening or absence of limbs. Surgical treatment and prosthetics.

Anencephaly, microcephaly, hypercephaly and hydrocephalus

All these are anomalies in the development of the brain. These developmental anomalies can be provoked by a deficiency in the body of a woman or rubella, measles and some other diseases suffered by the mother during pregnancy (especially in the first weeks after conception).

If anencephaly (lack of cerebral hemispheres) is detected in a child, the pregnancy is terminated at any time.

Fusion of twins (so-called Siamese twins)

This is one of the most severe anomalies of intrauterine development of the fetus. Twins can be connected by some part of the body (pelvis, head, etc.), their circulatory and other organ systems can be isolated or connected, one twin can be developed normally, and the other is underdeveloped. These children usually die at an early age. With fusion only with soft tissues and with the independent functioning of each child, the treatment is surgical.

Umbilical and spinal hernias

Hernia of the navel is an exit from the cavity under the skin of the intestine. Such hernias can go away on their own, in severe cases, surgical treatment.

Spinal hernias are the most severe fetal malformations. Most of the children suffering from these malformations die, and paralysis is noted in the survivors, therefore, if such fetal developmental defects are detected, premature termination of pregnancy is indicated.

Malformations of the heart and blood vessels

The cause of these fetal malformations may be a viral or bacterial disease transferred by the mother during pregnancy, as well as a lack of oxygen.

These heart defects, depending on their severity, are treated medically or surgically.

In severe cases, the child dies in utero or immediately after birth.

All anomalies in the development of the fetal skeleton are due to gene or chromosomal abnormalities in the cells of the unborn child.

In addition, other hereditary diseases are very rare (Hirschsprung's disease, Huntington's disease, Ponter's disease, Willebrand's disease, Tay-Sachs disease, Fraser syndrome, Patau syndrome, Turner's syndrome, marble disease, and many others). Malformations also include various birthmarks, some congenital skin diseases, congenital dislocation of the hip, craniocerebral hernia, and others.

Currently, more than 3.5 thousand hereditary developmental anomalies are known. It has been established that more than 5% of all children born are born with various pathologies.

All considered chromosomal and gene hereditary diseases are practically independent of the external environment.

by another group hereditary diseases are those to which the child has a hereditary predisposition, but clinically this disease manifests itself only under certain environmental conditions. These diseases include: diabetes mellitus, psoriasis, stomach ulcers, hypertension, gout and some others.

Some of the hereditary diseases appear only in old age (for example, Alzheimer's disease, atherosclerosis, gout).

If relatives in your family had various serious hereditary diseases, special medical genetic examinations must be completed before conceiving a child.

The risk of developing a hereditary disease and various deformities of the child in closely related marriages increases many times over.

No need to be scared: the considered congenital hereditary diseases are very rare (most often 1 child in several thousand births). Every expectant mother from the first days of pregnancy to the very birth worries about how her baby will be born, whether he will be healthy.

The description of all these malformations is not given to intimidate you, but to make you understand that the health of your baby is almost completely dependent on you.

If you eat right, and your unborn baby receives all the substances necessary for his life and development (proteins, fats, carbohydrates, vitamins, especially folic acid, and mineral salts), the probability of having a sick child is negligible.

For proper cell division, including at the stage of the embryo, the formation and growth of all internal organs, the metabolism of the fetus, its hematopoiesis, folic acid is necessary; in addition, it prevents premature births and miscarriages. In addition, if you lead the right lifestyle, do not smoke, do not use drugs and alcohol, your genetics do not have serious hereditary diseases, then there is practically no risk of having an unhealthy child, and you can be calm about your future baby.

If your relatives have any disease that is inherited, you need to be examined by a doctor and start timely treatment to prevent this disease or terminate the pregnancy in a timely manner in especially severe cases. It is necessary to refrain from pregnancy for women over 40 years old.

At the present stage of development of medicine, most of the listed developmental anomalies are detected in the early stages of pregnancy.

The most important thing for maintaining the health of the mother and the unborn baby is to register at the antenatal clinic as early as possible, visit it regularly and follow all the prescriptions of your doctor.

Pregnancy is a joyful and at the same time anxious expectation of the mystery of nature, which is about to happen. Throughout the path of intrauterine development of the baby, the mother sensitively listens to his every movement, awaits with trepidation the results of all the tests and the results of any study passed. Everyone wants to hear the same phrase from doctors: "Your child is healthy." But this is not always the case.

There are various fetal pathologies that are diagnosed at different stages of pregnancy and force parents to make a serious decision - will the baby be born or not. Painful deviations from the normal developmental process can be congenital or acquired.

Since the causes of pathologies in the fetus can be due to genetics or external factors, congenital and acquired abnormalities differ. The former are present from the very moment of conception and are diagnosed most often in the early stages, while the latter can appear in a child and be detected by doctors at any stage of pregnancy.

Congenital

Congenital, genetic pathologies of the fetus in medicine are called trisomies. This is a deviation from the norm of the child's chromosomes, which appears at the earliest stages of its intrauterine formation.

Pathologies due to the wrong number of chromosomes:

• Down syndrome - problems with the 21st chromosome; signs - dementia, peculiar appearance, growth retardation;
• Patau syndrome - disorders with the 13th chromosome; manifestations - multiple malformations, idiocy, multi-fingering, problems with the genitals, deafness; sick children rarely live up to 1 year;
• Edwards syndrome - pathology of the 18th chromosome; symptoms - small lower jaw and mouth, narrow and short palpebral fissures, deformed auricles; 60% of children do not live up to 3 months, only 10% reach 1 year.

Diseases dictated by the wrong number of sex chromosomes:

• Shereshevsky-Turner syndrome - the absence of an X chromosome in a girl; signs - short stature, infertility, sexual infantilism, somatic disorders;
• polysomy on the X chromosome is manifested by a slight decrease in intelligence, psychosis and schizophrenia;
• polysomy on the Y chromosome, the symptoms are similar to the previous pathology;
• Klinefelter's syndrome affects boys, signs - weakened hair growth on the body, infertility, sexual infantilism; in most cases - mental retardation.

Pathologies caused by polyploidy (the same number of chromosomes in the nucleus):

• triploidy;
• tetraploidy;
• cause - gene mutations of the fetus;
• lethal before birth.

If the causes of fetal pathology during pregnancy are genetic in nature, they can no longer be corrected, such diseases are incurable. The child will have to live with them all his life, and the parents will have to sacrifice a lot to raise him. Of course, among patients with Down syndrome, for example, there are talented, even gifted people who have become famous throughout the world, but you need to understand that these are a few, happy exceptions to the rules.

Acquired

It also happens that an embryo can be absolutely healthy genetically, but acquires deviations in the process of its uterine development under the influence of a variety of unfavorable factors. These can be diseases of the mother that she suffered during pregnancy, poor environmental conditions, an unhealthy lifestyle, etc.

Acquired pathology of the fetus during pregnancy can affect a variety of organs and systems. Among the most common are the following:

• deformation or absence (complete, partial) of internal organs (most often the brain suffers) or parts of the body (limbs, for example);
• anatomical defects of the facial skeleton;
• heart defects;
• non-closure of the spinal canal;
• cerebral hypoexcitability (perinatal) manifests itself after the birth of a baby in the form of low muscle tone, lethargy, drowsiness, unwillingness to suckle, lack of crying, but this pathology is treatable;
• cerebral hyperexcitability (perinatal) is also successfully treated, symptoms - severe tension, prolonged crying, screaming;
• hypertensive-hydrocephalic syndrome is characterized by an increased volume of the head, bulging of the fontanel, disproportions between the facial and cerebral lobes of the skull, and developmental delays.

In a special group, deviations from normal intrauterine development can also be distinguished, the causes of which are very difficult to determine. This is what nature has decreed, and nothing can be done about it. These include:

• pathology of the umbilical cord of the fetus detected at different stages of pregnancy: it can be too long or very short, prolapse of its loops, knots, abnormal attachment, thrombosis and cysts - all this can lead to the death of the child;
• multiple pregnancy (including Siamese twins);
• many- and;
• placental pathology: hyperplasia (its weight is too large) and hypoplasia (if its mass is less than 400 g), heart attack, chorioangioma, trophoblastic disease, placental insufficiency;
• incorrect presentation of the fetus, some doctors also call pathology.

Each of these deviations requires doctors and parents to have a special attitude towards the child they are carrying, utmost care, and most importantly, to remain calm. In order not to hear a disappointing diagnosis from a doctor, you need to try to exclude from your life all the factors that can cause acquired fetal pathologies. This is in the power of every woman who is expecting a child.

Stars with Down Syndrome. People with Down syndrome can be gifted. Among celebrities with such a congenital pathology are artist Raymond Hu, swimming champion Maria Langovaya, lawyer Paula Sage, actors Pascal Dukenne and Max Lewis, musician and composer Ronald Jenkins.

The reasons

Prevention of fetal pathologies involves the exclusion from the life of a young mother of those factors that can provoke the development of intrauterine abnormalities. The most common causes of such diseases include the following.

Heredity

If you know about the presence of genetic abnormalities in your family, even before conception, you need to undergo a series of examinations and.

Unfavorable environmental conditions

Mom's work at a chemical plant, in a laboratory with toxic substances, living near large industrial enterprises or a radiation zone can lead to irreversible consequences.

Wrong way of life

External deformities of newborns are very often caused by smoking, alcoholism, drug addiction, insufficient or poor nutrition of the mother during pregnancy.

Diseases

Viral and bacterial diseases can turn into the most dangerous pathologies for the baby:

• influenza up to 12 weeks ends either in a miscarriage, or the child will be completely healthy;
• influenza after 12 weeks can lead to pathologies of the placenta;
• rubella is fraught with deafness, blindness, glaucoma and damage to the skeletal system of the fetus;
• toxoplasmosis, transmitted through cats, provokes the development of microcephaly, meningoencephalitis, dropsy of the brain, damage to the eyes and central nervous system;
• hepatitis B: intrauterine infection of the fetus with this virus is dangerous, as a result, 40% of children can be cured, but 40% die before the age of 2 years;
• cytomegaly can be transmitted to the baby in the womb, and he runs the risk of being born blind, deaf, with cirrhosis of the liver, damage to the intestines and kidneys,.

Venereal diseases are no less dangerous for the intrauterine development of the fetus:

• herpes can be transmitted to a child and cause pathologies such as microcephaly, malnutrition, blindness;
• in a fetus infected with syphilis, a specific rash, damage to the skeletal system, liver, kidneys, and central nervous system are observed;
• gonorrhea leads to eye disease, conjunctivitis, generalized infection (sepsis), amnionitis or chorioamnionitis.

To avoid such dangerous consequences for the life and health of an unborn baby, parents should do everything possible to eliminate the above causes. Quit hazardous work, move away from the industrial zone, stop smoking and drinking, eat well, avoid diseases and treat them at the first symptoms. You can learn about the pathology of the fetus as early as 12 weeks, when the first examination for its presence is performed.

Lots of statistics. With mother's alcoholism, toxicosis is found in 26%, intrauterine death of the child - in 12%, miscarriages - in 22%, difficult births - in 10%, premature babies - in 34%, birth injuries - in 8%, asphyxia - in 12%, weakened newborns - in 19%.

Diagnosis and timing

Prenatal diagnosis of abnormalities in the development of the fetus is a complex and capacious process. One of the most important stages is, which is a set of examinations prescribed for pregnant women at 12, 20 and 30 weeks. As a rule, this is a blood test for the presence of biochemical serum markers of chromosomal disorders. Usually, checking the fetus for pathology includes the following activities.

Blood tests

I trimester (double test):

• free β-subunit (its concentration) hCG;
• PAPP-A: plasma protein A.

II trimester (triple test for fetal pathology):

• either total hCG is detected, or, as in the first trimester, a free β-subunit of hCG;
• α-fetoprotein (AFP protein);
• free estriol (unconjugated).

An obligatory addition to blood tests is ultrasound. Evaluation of results is always complex. However, a blood test for fetal pathology, even with ultrasound, cannot give a 100% guarantee, therefore, if abnormalities are suspected, invasive diagnostic methods are performed: chorionbiopsy and cordocentesis.

Chorionic biopsy

This is the receipt of chorion tissue for the detection and prevention of chromosomal diseases, the carriage of chromosomal abnormalities and monogenic diseases. It is performed in the form of a uterine puncture, which can be carried out through the abdominal wall, vagina or cervix with special forceps or an aspiration catheter.

Those parents who want to know how to determine the pathology of the fetus in the early stages can use this analysis, since its main advantage is that diagnostics are performed already at 9-12 weeks, as well as quick results (2-3 days). Indications for carrying out:

• age over 35;
• the presence of a child with CM (congenital malformation), monogenic, chromosomal diseases;
• heredity of chromosomal abnormality, gene mutation;
• at 10-14 weeks of pregnancy, according to echography, the thickness of the collar space is more than 3 mm.

This analysis for fetal pathology is quite painful and can provoke bleeding, but with experienced medical staff everything goes without complications.

Cordocentesis

This is a method of obtaining cord (cord) blood of a child for research. It is usually performed in parallel with amniocentesis (analysis of amniotic fluid). Available up to 18 weeks.

Under infiltration anesthesia, a needle is punctured through the abdominal anterior wall and the necessary amount of blood is pumped out of the umbilical cord vessel. Such examination of the fetus for pathology can reveal chromosomal and hereditary diseases, Rhesus conflict, hemolytic disease.

ultrasound

One of the most accurate and reliable diagnostics is ultrasound. Many parents are concerned about which fetal pathologies can be detected during pregnancy on ultrasound, and which ones can remain, as they say, “behind the scenes”.

Ultrasound at 12 weeks reveals:

• CNS defects (anencephaly);
• absence of the peritoneal anterior wall (gastroschisis);
• pathology of the spine in the fetus;
• umbilical hernia (omphalocele);
• absence of limbs;
• Down syndrome.

At week 20, almost all visible pathologies of the fetus on ultrasound can be diagnosed. This is due to the fact that most of the internal organs and systems of the baby are already well formed.

At week 30, an ultrasound examination can only confirm or refute the data obtained by other methods (using a blood test, cordocentesis, chorionbiopsy).

Now - about what fetal pathologies are not detected by ultrasound:

• blindness;
• mental retardation;
• deafness
• minor organ defects in the fetus - obstruction of the liver ducts, defects in the cardiac septa;
• genetic diseases: Duchenne myopathy, cystic fibrosis, phenylketonuria;
• fetal chromosomal pathologies - Edwards, Patau, Turner syndrome.

However, the last group of these deviations does not elude doctors, as they are helped by a pregnant woman's blood test for fetal pathology and other diagnostic methods.

A young mother cannot herself feel any symptoms that something is wrong with her baby. Only a set of diagnostic measures at different stages of pregnancy can reveal deviations. Thus, signs of fetal pathology in the early stages, detected by ultrasound, should be visually noticeable. These are external deviations in its development: the shape of the skull, the ratio of sizes, the features of skin folds, etc.

Unfortunately, there are cases when a child is born with pathologies not detected prenatally. This happens either due to the inexperience and unprofessionalism of the medical staff, or due to a malfunction or dilapidation of the ultrasound equipment.

Data. Thanks to ultrasound, up to 80% of congenital pathologies in the fetus are detected in time, of which 40% of pregnancies are terminated due to severe, disabling or life-incompatible defects.

At-risk groups

There is a group of women who come under the closest attention of geneticists, since the risk of developing abnormalities is very high. They are required to take blood for fetal pathology and carry out other diagnostic measures at different stages of pregnancy. These are the following cases:

• age over 35;
• if the family already has a child with a pathology;
• previous miscarriages, stillbirths, miscarriages;
• heredity (if one of the parents has Down syndrome);
• long-term use of strong medications during pregnancy;
• the effect of radiation on the mother's body.

If a woman falls into a risk group, she is given a detailed consultation on how to find out if the fetus has pathologies, and prescribe all the necessary measures for this. The main purpose of such screenings is to find out if the child can be helped and whether such a pregnancy should be left until delivery.

Attention: radiation! If a young mother has been exposed to radiation, she must be sure to inform the doctor about it, since it is for this reason that babies are most often born with irreversible and incorrigible external deformities.

Forecasts

Further development of events largely depends on how long fetal pathologies are detected (the sooner the better) and what kind of deviation was diagnosed. The doctor can only advise, but the decision is made by the parents themselves.

If the genetic mutation is strong and entails the inevitable death of the child (intrauterine or in the first year of life), abortion is suggested. If external deformities are few, modern plastic surgery works wonders, and the child in the future may look the same as other children. Each case is too individual and unique, therefore it requires a special approach.

If pathologies of fetal development have been identified, parents should first of all listen to the opinion of doctors. If the deviations are too serious and will make the life of the baby unbearable in the future, and at the same time the young couple has every chance to conceive a healthy child next time, doctors suggest abortion. Each case is unique and requires an individual approach.

The right decision can be made by weighing all the pros and cons. Do not panic or despair: this will only aggravate the situation. Modern medicine works wonders, and you need to rely entirely on the professional opinion of an experienced, knowledgeable doctor in this matter.

Ultrasound of the fetus for the detection of 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 in the early stages of pregnancy.

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

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

There are 5-7 babies per 1000 newborns with anomalies 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 has . With the help of ultrasound, you can see various anomalies and pathologies, so an ultrasound examination to detect malformations is mandatory for every pregnant woman.

When and why 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 expected), occurs when two sperm 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. Thus nature protects humanity from complete degeneration.

In general, chromosomal pathologies are divided into 4 groups:

1. Gametopathy.Pathology exists even before conception in the sperm or egg 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 receives damage 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 immune from the birth of a baby with genetic abnormalities. If earlier mothers over 35 years old, diabetics, women with chronic diseases (kidney failure, thyroid problems) were included in the risk group, today sick children are born to young mothers aged 20 to 30 years.

The statistics are bleak. So, the risk of having a baby with chromosomal abnormalities in 20-year-old women is 1:1667, and in 35-year-olds already 1:192. But in reality, 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 undergo

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

In semester 1, for a period of 10 to 14 weeks (up to week 10, 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's syndrome
• Langer-Gideon syndrome
• Miller-Dicker syndrome
• DiGeorge anomaly
• Williams syndrome
• Wilms tumor
• triploidy (when there are not 46 chromosomes in each pair, but 69, i.e. three, not two)
• neural tube defect

At 20-24 weeks, another ultrasound is done. Among the genetic diseases of the fetus, visible on ultrasound in the 2nd semester, one can note:

• anencephaly (absence of the brain, diagnostic accuracy 100%)
• abdominal wall pathology (86%)
• pathology of limb development (90%)
• herniated spinal cord (87%)
• pathology of development or absence of kidneys (85%)
• the presence of a hole in the diaphragm, which separates the abdominal cavity and chest (85%)
• (100%)
• heart anomalies (48%)

At the 3rd semester, dopplerometry is performed - an ultrasound study with the definition of the vascular system of the fetus, placenta and mother. Starting from the 23rd week of pregnancy, the umbilical artery, uterine artery and middle cerebral artery are checked. Systolic (when the heart muscle contracts) and diastolic (when the heart muscle relaxes) blood flow is examined. In a baby with chromosomal disorders, the blood flow is atypical.

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

Types of ultrasound studies

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

Standard ultrasound. It is usually combined with a biochemical blood test. It is carried out no earlier than 10 weeks of pregnancy. First of all, the thickness of the collar zone is revealed in the fetus, which should not exceed 3 mm, as well as the 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 thickness increase is affected by the following factors:

• heart disease
• stasis of blood in the neck veins
• violation of lymphatic drainage
• anemia
• intrauterine infections

Doppler - ethat unusual ultrasound study that evaluates the blood flow of the fetus. The difference between the sent and reflected signal indicates the norm or pathology of the “fetus-placenta-mother” chain.

1. allows you to see a color image of the baby, to see the limbs, the absence of fused fingers, underdeveloped feet etc. The accuracy of diagnosing the collar space increases by 30%. The doctor can tell for sure if there are pathologies in the development of the neural tube.
2. according to the principle of operation does not differ from simpler options, but 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 dots the “i”, whether there are chromosomal anomalies or none. With 100% Accuracy it can be stated 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 can be both specific (Down's syndrome, Wilms' tumor) and general, when the internal organ develops incorrectly. To identify common anomalies, there is an anatomical examination of the fetus. It is carried out 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 an anatomical ultrasound, all organs of the fetus are displayed in section, and in the picture the bones will be white, and the soft tissues will be various shades of gray. The specialist can clearly see the structure of the brain, he is also able to see anomalies in development. The splitting of the upper palate, called the cleft lip, becomes noticeable.

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 heart pathologies is confirmed by the same sizes of the atria and ventricles. The normal functioning of the stomach is indicated by its fullness with amniotic fluid. The kidneys should be located in their place, and the 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 the pathology

Pathology	How and when to detect	What is the meaning of pathology	Character traits	Mental and intellectual development
Down syndrome	A chorion biopsy is performed, an enlarged collar space in the fetus, underdevelopment of the nasal bones, an enlarged bladder, fetal tachycardia	Chromosomes of the 21st pair instead of 2 are represented by 3 in the chain	Slanted Mongoloid eye section, regardless of the race of the child, undeveloped bridge of the nose, shallow-set eyes, semicircular flat ear, shortened skull, flat nape, shortened nose	Intellectual retardation, small vocabulary, no abstract thinking, no concentration, hyperactivity
FORECAST	Live up to 60 years, in rare casessubject to constant employment with the child, his socialization is possible.Such a child needs constant look after
Patau Syndrome	Small head at 12 weeks on ultrasound asymmetrical hemispheres, extra fingers	Trisomy present on chromosome 13	Children are born with microcephaly (underdevelopment of the brain), low forehead, slanted palpebral fissures, cleft lip and palate, clouding of the cornea, heart defects, enlarged kidneys, abnormal sex organs	Profound 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, visible on ultrasound microcephaly	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, cleft lip and palate, narrow ear canal, congenital dislocations, clubfoot, severe anomalies of the heart and gastrointestinal tract, underdevelopment of the brain	Children suffer from oligophrenia (organic brain damage), mental retardation, imbecility (medium mental retardation), idiocy (lack of speech and mental activity)
FORECAST	Dies within the first year of life90% of sick children, up to 10 years - less than 1%
Shereshevsky-Turner syndrome	X-ray of the bone structures of the fetus, MRI of the myocardium	Anomaly found on the X chromosome	It occurs more often in girls. A 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 development of teeth. Sexual infantilism (no follicles in the ovaries), underdevelopment of the mammary glands	Speech and attention suffer. Intellectual abilities are not impaired
FORECAST	The treatment is carried out with anabolic steroids, girls from the age of 14 are prescribedfemale hormonal preparations. ATin some cases, it is possible to defeat the disease, and a woman can become pregnantIVF method. Most patientsremain barren
Polysomy on the X chromosome	Screening at 12 weeks pregnant chorionic biopsy, amniotic liquids. Alarming increase collar zone	Three or more X chromosomes instead of two	It occurs in girls and rarely in boys. Characterized by sexual infantilism (secondary sexual characteristics do not develop), tall stature, spinal curvature, skin hyperpigmentation	Antisocial behavior, aggression, mental retardation in men.
FORECAST	In constant training with teachersand involvement in workpossible socialization of the child
Polysomy on the Y chromosome		Instead of XY chromosomes, there is an extra Y chromosome	Occurs in boys. They grow tall from 186 cm, heavy massive lower jaw, prominent brow ridges, narrow shoulders, wide pelvis, stoop, belly fat	Mental retardation, aggression, emotional instability
FORECAST	With the child you need to deal with, guidehim for peaceful activities, to attract to sports
Carnelia de Lange syndrome	A blood test from a pregnant woman found no protein-A in the serum. plasma (PAPP-A), which is usually a lot	mutations in the NIPBL or SMC1A gene	Thin unibrows, shortened skull, high palate, abnormally erupted teeth, underdeveloped limbs, marbled skin, congenital malformations of internal organs, growth retardation	Profound mental retardation
FORECAST	Average life expectancy 12-13 years
Smith-Lemli-Opitz syndrome	Ultrasound shows anomalies of the skull in the fetus, costal bones	mutation in the DHCR7 gene responsible for cholesterol production	Narrow forehead, drooping eyelids, strabismus, skull deformity, short nose, low set ears, underdeveloped jaws, anomalies of the genital organs, fusion of fingers	Hyperexcitability, aggression, decreased muscle tone, sleep disturbances, mental retardation, autism
FORECAST	Therapy with food cholesterol
Prader-Willi syndrome	There is low fetal mobility, wrong position	The paternal part of the chromosome is missing on the 15th chromosome	Obesity with short stature, poor coordination, weak muscle tone, strabismus, thick saliva, bad teeth, infertility	Mental retardation, speech lag, lack of communication skills, poor fine motor skills. Half of the patients have an average level of intelligence, they can read
FORECAST	With constant practice, a child can learn to read, count, remember people. Fight against overeating
Angelman syndrome	Starting from the 12th week, there is growth retardation of the fetus and mass	Absent or mutated UBE3A gene on chromosome 15	Frequent unreasonable laughter, petty tremor, many unnecessary movements, wide mouth, tongue sticking out, walking on absolutely straight legs	“Happy puppet syndrome”: the child laughs often and for no reason. Mental retardation, hyperactivity, impaired coordination of movement, chaotic waving of the arms
FORECAST	An antiepileptic therapy, muscle hypotonia is reduced by massage, at best, a childlearn non-verbal communication and self-care skills
Langer-Gideon Syndrome	On 4D ultrasound, maxillofacial anomaly	trichorinophalangeal syndrome, consisting in the violation of the 8th chromosome	Long, pear-shaped nose underdevelopment of the lower jaw, very protruding ears, uneven limbs, curvature of the spine	Mental retardation, mental retardation of varying degrees, lack of speech
FORECAST	Poorly amenable to correction, lowlife expectancy
Miller-Dikker Syndrome	Abnormal structure seen on ultrasound skulls, facial disproportions	Pathology in the 17th chromosome, causing smoothing of the cerebral convolutions. Caused by fetal toxicity aldehydes when abused 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	Survival up to 2 years. Children can only learn to smile and make eye contact
Anomaly DiGeorge	In some cases, ultrasound reveals various organ defects in the baby, especially the heart (tetrad of Fallot)	Disease of the immune system, violation of the site of the 22nd chromosome	Thymus hypoplasia (underdevelopment of the organ responsible for the production of immune cells), facial deformity and skulls, heart disease. Missing parathyroid glands responsible for calcium and phosphorus metabolism	atrophy of the cerebral cortex and cerebellum, mental retardation, motor and speech difficulties
FORECAST	Treatment with immunostimulants, thymus transplantation, calcium supplementation therapy. Children rarely live past the age of 10, die from the consequences of immunodeficiency
Williams syndrome	Ultrasound shows disproportions in the development of the skeleton, elasticity of the joints	Genetic disease caused by the absence of a link in the 7th chromosome	The synthesis of elastin protein is disturbed, in children the “Elf face” is typical: swollen eyelids, set low eyes, pointed chin, short nose, wide forehead	Hypersensitivity 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 with the solution of mathematical problems
Beckwith-Wiedemann Syndrome	Abnormally visible on ultrasound disproportionate limbs, overweight, kidney disease	Genetic disease caused by the absence of a link in the 11th chromosome	Rapid growth at an early age, abnormally large internal organs, susceptibility to cancer. The child has an umbilical hernia, an abnormally large tongue, microcephaly (underdevelopment of the brain).	Emotional and mental development in some cases does not lag behind the norm. Sometimes there is severe mental retardation
FORECAST	Lifespan as normalpeople, but there is a tendency to cancerous tumors
Treacher Collins Syndrome	Ultrasound shows a pronounced asymmetry of facial features	Genetic mutation on the 5th chromosome that causes damage to bone structures	The child has practically no face, a pronounced physical deformity	Absolutely normal psycho-emotional development
FORECAST	Surgical interventions are being carried outin 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 passed down from both parents. Indicators such as height, eye and hair color are determined. Similarly, various deviations are laid, if both or one of the parents has a damaged gene. That is why it is forbidden for close relatives to marry. After all, then the likelihood of bearing a fetus with a genetic pathology increases. With a partner who has the opposite genetic set, there are more chances to give birth to a healthy baby.
2. Age of parents. The risk group includes mothers over 35 and fathers over 40. With age, immunity decreases, chronic diseases occur, and the woman’s immune system simply “does not notice” genetically damaged sperm. Conception will occur, and if a young woman’s body itself rejects an inferior fetus, an older mother pregnancy will be more peaceful.
3. Mom's bad habits. Almost 90% of pathological pregnancies pass 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 abnormalities. In alcoholics, in 46% of cases, children are born with genetic pathologies. Alcohols also “break” the genetic chains in fathers who like to drink.
4. infections. Especially dangerous are diseases such as influenza, rubella, chickenpox. The most vulnerable fetus is until the 18th week, until the amniotic sac is formed. In some cases, the woman is asked to .
5. Reception medicines. Even ordinary chamomile tea for a pregnant woman is toxic. Any medication should be accompanied by a doctor's advice.
6. Emotional turmoil. They cause the death of nerve cells, which invariably affects the development of the fetus.
7. Bad ecology and climate change. Having become pregnant during a holiday in Thailand, it is possible to bring a dangerous infection along with pregnancy, which will slowly develop in their native lands, affecting the health of the baby.

How to prevent fetal malformations and where to do a fetal ultrasound in St. Petersburg

You can prevent most problems with bearing and fetal pathologies by planning a pregnancy in advance. both partners undergo tests that clearly show the likelihood of genetic abnormalities. A range of tests are also carried out for infections that can cause deformities in the baby ( ) and other studies.

We invite you to undergo an ultrasound on fetal pathology in St. Petersburg at. We have the latest ultrasound machine with Doppler. The examination is carried out in 3-D and 4-D formats. A disk with a record is issued on hand.