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Pathology at the birth of a child. Pathologies of fetal development caused by infectious diseases. You have a child with a congenital malformation

Ultrasound diagnostics for pregnant women is carried out three times. But if the need arises, the doctor may prescribe an additional study to confirm or exclude the diagnosis.

On each of planned ultrasound the doctor looks at the fetus. Does the head, legs, arms, stomach, nose correspond to the stage of development at which the baby is located. For more later dates the doctor reveals which organs are developed correctly: heart, stomach, liver, etc.

Ultrasound up to 12 weeks

Early pregnancy ultrasound

Sometimes they do an ultrasound up to 12 weeks. This is shown in the following cases:

  • Burdened obstetric and gynecological history. That is, if in the past there were cases of miscarriage, miscarriage, suspicion of a “frozen” pregnancy, etc.
  • Complications during the current pregnancy (bleeding, sharp pain in a stomach)
  • Pregnancy after IVF
  • If during previous pregnancy fetal pathologies were detected (Down syndrome or other trisomies, hydrocephalus, etc.)

Also, up to 12 weeks, ultrasound can be done for women with suspected hematoma. A hematoma occurs when exposed to harmful factors on the pregnant uterus (infections, preeclampsia). Hematoma happens:

  • Retrochorial.
  • Retroplacental.

These hematomas differ only in the moment of their formation. If a hematoma has formed without a formed placenta, then it is called retrochorial.

On early dates pregnancy, a small hematoma, as a rule, does not cause pain in the abdomen and is detected by ultrasound. But it happens that in the early stages of a large hematoma, it is dangerous to terminate the pregnancy. In the later stages, the hematoma negatively affects the fetus - it leads to hypoxia, a decrease in the fetus in size. Early detection and big sizes hematomas will help to heal and give birth to a healthy full-term baby. Treatment of a hematoma generally requires hospitalization.

What can be revealed in the first trimester?

During the first ultrasound, you can determine the risk of developing Down syndrome and some other chromosomal pathologies. The most important thing is that the fruit be of a certain size. The KTP (coccygeal-parietal size) is measured, it must be at least 45 mm, but not more than 84 mm. If the fetus is too small or vice versa large, then it will be impossible to interpret such an indicator as thickness collar space or zones (TVP).

First trimester screening can detect some fetal chromosomal disorders

The thickness of the collar zone is the thickness of all tissues in the neck area. Normally, this indicator does not exceed 2.7 mm, and the average value is 1.6 mm. If the size of the collar zone is more than 3 mm, then the probability of having Down syndrome in the fetus is very high. Of course, one indicator does not give the right to make such a serious diagnosis. A pregnant woman is shown to undergo a number of examinations, including biochemical research blood, amniocentesis. Importance in confirmation of the presence of Down's disease in the fetus, it has the age of the pregnant woman. If a woman is older than 35, then the risk of having a child with Down syndrome increases markedly.

If Down syndrome is suspected in the fetus, an additional measurement of brain structures is performed (if the thickness of the collar zone is normal, then these measurements may not be made). The cerebellum in Down's disease is reduced in size, as is the frontal lobe. Also, with this syndrome, ultrasound reveals a shortening of the fronto-thalamic distance.

The nose in Down syndrome is flattened and shortened, and the bone above the nose has a saddle shape. This is due to the development of the bones of the nose. With this pathology, the nose ossifies with some delay, in connection with this, at the first ultrasound, the sonologist may simply not see the nose. Of course, with further development, the nose appears, but it decreases in size and is somewhat deformed.

Fetometry for a period of 12 weeks includes measuring the size of individual organs and body parts. The size of the head (biparietal size) is 21 mm, the length of the thigh is approximately 8 mm. In addition, the circumference of the abdomen and head, the length of the shoulder are evaluated.

Suspicion of defects found on ultrasound at 12 weeks is not confirmed in all cases during further examination. But if at this time there were suspicions of the presence of Down syndrome, then with subsequent ultrasounds, the doctor will study the parameters of the fetus in more detail and intently.

Second scheduled ultrasound

Second trimester screening

It is carried out in the period of 20-22 weeks of pregnancy. By this time, the structures of the child are developed and visible much better. It is already possible to assess the structure of individual organs and identify their pathology. The fetal heart is fully formed by this time, as are the kidneys with pelvises. The presence of heart defects with simultaneous expansion of the renal pelvis should suggest the presence of Down syndrome. During this period, an experienced doctor will notice changes in the nose that are characteristic of Down's disease. The nose is expanded along with the bridge of the nose.

GI tract on ultrasound

The baby's stomach is also more formed by this time and must have a cavity. Sometimes it happens that the cavity is not visualized, or vice versa, its expansion is observed. Sometimes it can only be an accident - the fetus has taken a certain position, a bad ultrasound sensor, and sometimes the absence or expansion of the cavity in the stomach can indicate serious pathologies fetus.

First, the specialist needs to make sure that the stomach is there. Because sometimes it is possible to develop such a defect as a diaphragmatic hernia, in which the stomach moves from abdominal cavity into the chest. If the stomach is right place, then you need to trace its connection with the esophagus and intestines.

With atresia of the esophagus, the stomach cavity is not detected. If there is a problem in the pyloric region (the part of the stomach in front of the small intestine), then the cavity may contain hyperechoic inclusions and even be enlarged. Various inclusions in the fetal stomach should be differentiated from a tumor. Sometimes the fetus can swallow blood in utero, which will also be noticeable on ultrasound. But similar situations rarely lead to an increase in the stomach cavity, it still remains relatively small.

It is worth noting that normal sizes stomach are quite variable. As a result, it is problematic to determine the expansion of the cavity, or an increase in the entire stomach. It is necessary to evaluate the circumference of the abdomen and correlate it with other parameters.

The small intestine in the second trimester of the fetus is also well formed. It should be approximately the same diameter and not contain hyperechoic inclusions. If high-density inclusions are detected on ultrasound, this may be a sign of some pathologies that will later be confirmed in the newborn. Meconium ileus syndrome (hyperechoic inclusions in the intestine) may be a sign genetic pathology(cystic fibrosis, Down syndrome, trisomy 18 and 13).

brain research

Ultrasound examination of the fetal brain

With the second screening ultrasound, it is possible to assess the structures of the brain in more detail. By 22 weeks, the ventricles of the brain are well formed. An increase in their size is called ventriculomegaly. Many experts initially call it hydrocephalus. But the concept of hydrocephalus also includes an increase intracranial pressure and increased head size. Normally, with a transverse measurement of the lateral ventricles, the size should be up to 10 mm. But in different sources, the sizes vary somewhat.

Hydrocephalus may be suspected if the fetus has a genetic abnormality (for example, Down's syndrome). There is also a high chance of hydrocephalus in the fetus if the mother has had some infections during pregnancy. For example, toxoplasmosis, herpes virus, rubella cause multiple fetal pathologies, including hydrocephalus.

If the specialist exposed ventriculomegaly at the second planned ultrasound, then at 30 weeks we can talk about hydrocephalus.

Also on the second ultrasound, the doctor can look at the face of the fetus. At this time, it is fully formed - the nose and lips resemble those of newborns. If there is a cleft between the nose and lip, the doctor will also see it. Clefts can be on one side of the nose or both. Sometimes such a defect is combined with a cleft palate. Other pathologies of the nose on ultrasound in this period are not visible.

Ultrasound at 30 weeks

At the third planned ultrasound, it is possible to confirm or exclude previously diagnosed diagnoses. So, for example, you can trace the entire calving of the gastrointestinal tract to the rectum. Sometimes, the contents of the colon contain hyperechoic inclusions - this is a variant of the norm. The lumen of the small intestine is small in relation to the large intestine.

The head should not be larger than normal, otherwise it will be evidence of hydrocephalus. Of course, one head size is not enough to diagnose hydrocephalus, the ventricles must also be enlarged. And if external hydrocephalus has developed, then the subarachnoid space increases.

Diagnosis of hypoxia

At normal course pregnancy ultrasound at 30 weeks is the last before childbirth. The third ultrasound is often performed using Doppler. This is necessary to assess the blood flow in the placenta and detect hypoxia.

In addition to dopplerometry, the general picture on ultrasound will help in identifying hypoxia - the fetus is small and actively moving. CTG analysis is also important for diagnosing hypoxia. At oxygen starvation the child's heart beats too slowly (in motion up to 130 beats, at rest up to 110).

With hypoxia, the child tries to find a place for himself and moves too intensely, which can lead to entanglement with the umbilical cord.

Why is cord entanglement dangerous?

Quite often, on this ultrasound, the doctor detects an entanglement of the umbilical cord around the head, or rather the neck of the fetus. In some cases, by the time of birth, the baby moves and turns several times in utero and “untangles”. If there is no clamping of the umbilical cord, and there are no knots on it, then the entanglement itself does not cause discomfort to the fetus, it develops and grows well. And if there were no problems during childbirth (the doctor freed the head from the umbilical cord in time), then the entanglement is also not a cause for concern.

cord entanglement

You should only worry if there is a tight entanglement of the umbilical cord. In this case, the blood flow between mother and child is disturbed. A tight entanglement with the umbilical cord can be isolated, or it can be combined with another entanglement (one around the neck, the second around the head, abdomen or other part of the body). At the same time, the umbilical cord itself is shortened and limits the mobility of the fetus.

There are cases of repeated entanglement of the umbilical cord around the baby's neck. This option is not very favorable, but if it does not cause hypoxia, then it can result in the birth of a healthy baby.

The most unfavorable outcome in case of cord entanglement and hypoxia caused by this is cerebral palsy and other neurological disorders of the newborn.

Causes of cerebral palsy

  • Hypoxia before or during childbirth.
  • The weight of a premature baby is less than 2000 g.
  • Intrauterine infections and other teratogens (drugs).

A married couple is planning a pregnancy

It is possible to prevent the development of cerebral palsy only prophylactically - planning pregnancy, refusing to take harmful drugs, absence stressful situations. In new scientific studies, more and more reveal genetic predisposition to cerebral palsy.

It should be noted that such a diagnosis as cerebral palsy is made only after 1 year. And before that, the baby lives with encephalopathy of the newborn. Cerebral palsy is put after a year, because. This diagnosis requires some clinical manifestations to be tracked during the first 12 months of life.

To confirm cerebral palsy, a number of examinations are carried out: EEG, CT scan of the head, etc. Parents of the child should carefully monitor the development of the baby in order to see signs of cerebral palsy or its absence. How long after childbirth will take place that the clinic developed is not known for certain.

Most fetal pathologies are diagnosed by ultrasound. That is why ultrasound diagnostics is included in screening.

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 period embryonic development 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.

Developmental anomalies 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 big size and brain mass - 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 prenatal development the child is 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 found in early stages 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 a study 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 Down syndrome: crease at the inner corner of the eye, flat face and back of the head, small nose, big tongue, open mouth, short neck and a skin fold on the neck, shortened limbs and fingers, muscle weakness, there may be strabismus. 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 according to special techniques. 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 female type: narrow shoulders, wide pelvis, long legs, enlarged mammary glands. Mental and intellectual deviations can be noted. At the first signs this disease you must 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, thin limbs, with a characteristic shape of fingers, deformed rib cage, the skin tastes salty (if you lick it). 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. When appointed 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 lies in the failure of upper lip that interferes with the baby's suckling. 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 in 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). Developmental defects also include various birthmarks, some congenital skin diseases, congenital hip dislocation, craniocerebral hernia and others.

Currently, more than 3.5 thousand hereditary developmental anomalies are known. It has been found 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 when certain conditions external environment. These diseases include: diabetes, psoriasis, gastric ulcer, 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 future 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 embryonic stage, formation and growth of all internal organs, metabolism of the fetus, its hematopoiesis requires folic acid; in addition, it prevents premature birth and throw out. In addition, if you lead the right lifestyle, do not smoke, do not use drugs and alcohol, your genetics does not have serious hereditary diseases, then the risk of giving birth is not healthy child practically absent, and you can be calm for 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 to 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.

birth defects fetal development (CF) is perhaps the most dangerous complication pregnancy leading to childhood disability and mortality.

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

1. hereditary

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

2. Congenital

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

3. Multifactorial (combined factor)

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

Classification of fetal malformations

The most common malformations of intrauterine development of the fetus:

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

It should be noted that the severity of pathologies can be completely different. It depends on the location of the genetic damage, as well as on the duration and intensity of the toxic effect on the fetus. There is no clear relationship between them.

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

Causes of fetal malformations

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

Understanding the causes of the appearance of congenital malformations, at times, is not so simple. Deviations in the set of chromosomes of one or both parents lead to the birth of a child with diseases such as Down syndrome, Patau, Edwards, hemophilia, color blindness, etc.

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

The most studied teratogenic factors:

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

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

Critical periods of fetal development

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

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

Third critical period pregnancy becomes 18-22 weeks, when the laying of neural connections of the brain occurs and the hematopoietic system begins its work. This period is associated with mental retardation of the fetus.

Risk factors for fetal abnormalities

Maternal risk factors for CM:

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

Risk factors for congenital malformations on the part of the fetus:

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

Anomalies in the development of the placenta:

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

Diagnosis of fetal malformations

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

This will allow you to get an assumption about the presence or absence of the fetus chromosomal abnormalities, and conducting ultrasound as additional method diagnostics will show if there are deviations in the physical development of the fetus. Ultrasound should be performed by a highly qualified specialist and on high-quality equipment. The results of each study are evaluated jointly, without separation from each other.

Screening does not guarantee 100% pathology, it only allows you to determine the group high risk among pregnant women. This is an important and necessary measure and, despite the voluntary nature, most expectant mothers understand this. It is not uncommon for specialists to find it difficult to answer the question of the presence of genetic defects in the fetus. Then, depending on the trimester of pregnancy, the patient is prescribed invasive research methods:

  • (study of chorionic villi)

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

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

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

  • placentocentesis (examination of placental particles)

It is performed from 12 to 22 weeks of pregnancy to detect genetic pathologies.

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

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

Pregnant women are sent for a mandatory consultation with a geneticist:

  • whose age exceeds 35 years;
  • having a child or children with genetic disorders;
  • who had a history of miscarriages, non-developing pregnancy, stillbirth;
  • in whose family there are relatives with Down syndrome and other chromosomal abnormalities;
  • recovered from viral diseases in the 1st trimester of pregnancy;
  • taking drugs prohibited during pregnancy;
  • exposed to radiation.

For the diagnosis of fetal pathologies after birth, the following research methods: analyzes of blood, urine and other biological fluids, x-rays, computed and magnetic resonance imaging, ultrasound, angiography, broncho and gastroscopy, other immune and molecular methods ...

Indications for termination of pregnancy

Any detection of fetal CM implies a proposal to terminate the pregnancy according to the so-called medical indications. If a woman refuses this and decides to keep the child, she is taken under special control and monitor pregnancy more closely.

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

There are other indications for abortion:

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

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

Prevention of congenital malformations of the fetus

The main measure aimed at preventing the occurrence of congenital malformations of the fetus is pregnancy planning. Not only the success of conception, but also the process of carrying a pregnancy, quick and correct delivery, and the health of the mother and child in the future may depend on high-quality preparation.

Before planning a pregnancy, it is necessary to undergo a series of examinations: take tests for (STD), HIV, hepatitis, syphilis, check blood clotting, hormonal status, sanitize the oral cavity, do an ultrasound of the pelvic organs to exclude inflammatory diseases and neoplasms, visit a therapist to identify all possible chronic diseases, ideally both parents should be genetically tested.

The key point in the prevention of congenital anomalies of the fetus is the maintenance healthy lifestyle life, rejection bad habits, balanced and good nutrition, exclusion of the impact on your body of any negative and harmful factors. During pregnancy, it is important to treat all possible diseases and follow the instructions of the obstetrician-gynecologist.

Treatment of congenital malformations of the fetus

Methods for the treatment of congenital malformations of the fetus vary considerably depending on the nature and severity of the anomaly. The statistics on this issue, unfortunately, are not encouraging. A quarter of the children congenital anomalies dies within the first year of life.

Sadly, but, according to medical statistics, about 5% healthy parents are at risk of giving birth to children with mental or physical development. Is it possible to find out about fetal pathologies in advance? Is the diagnosis of “fetal pathology” always a sentence for an unborn baby?

At what time of pregnancy can you find out about the pathology of the fetus?

Screening blood tests are carried out:

  • at 11-13 weeks - "Double test". It analyzes 2 blood protein indicators, which can be used to judge the risk of a child developing chromosomal disorders such as Down syndrome and Edwards syndrome.
  • at 14-15 weeks - " triple test". He, in addition to the above syndromes, can predict the presence of defects neural tube.

When calculating the risk of pathologies, the following should ALWAYS be taken into account: multiple pregnancy, IVF, woman's weight, diabetes mellitus, presence of colds at the time of the test, smoking. All of these factors can greatly inflate risk scores.

Screening studies only determine the PROBABILITY of the appearance of chromosomal disorders! With positive indicators, an additional examination is necessary: ​​ultrasound, chorionic biopsy, amiocentesis, cordocentesis.

Ultrasound at 11-14 weeks of gestation can reveal obvious developmental pathologies and some changes that indicate fetal chromosomal abnormalities.

Ultrasound at 20-22 weeks diagnoses malformations of internal organs.

Attention! If the ultrasound showed the presence of deviations, it is necessary to double-check the diagnosis with 2-3 doctors in order to avoid mistakes!

Chorionic biopsy- analysis of placental cells. It is carried out at 8-12 weeks. Amniocentesis - cytogenetic analysis of amniotic fluid. It is carried out at 16-24 weeks. The safest of invasive research methods. The risk of complications after it does not exceed 1%. Cordocentesis - puncture of the umbilical cord of the fetus. It is carried out at 22-25 weeks.

If a child with a pathology

Doctors recommend having an abortion or inducing premature birth only if the pathology of the fetus is incompatible with life. Most pathologies do not require termination of pregnancy. Level modern medicine allows you to "correct" many malformations after the baby is born.

If you find out that a child has a pathology that is compatible with life, try to collect as much information as possible about the nature of the violations and about which medical institutions can help you. For example, it is now possible to quickly eliminate even complex congenital heart defects within a few days after the birth of a child. After the operation, babies grow and develop in the same way as their healthy peers. Part physical disorders may go away on its own as the child grows, some require treatment or surgery. So there is always hope!

AFP is the main component of the liquid part of the blood (serum) of the developing fetus. This protein is produced yolk sac and the liver of the fetus, enters the amniotic fluid with its urine, enters the mother's blood through the placenta and is absorbed membranes. By examining the blood from the mother's vein, one can judge the amount of alpha-fetoprotein produced and secreted by the fetus. AFP is found in the mother's blood from the 5-6th week of pregnancy. The amount of AFP in the mother's blood changes with a more massive release of this component. So, if any parts of the neural tube are not closed, a larger amount of the baby's serum is poured into the amniotic cavity and enters the mother's blood.

Elevated AFP content is determined in maternal blood:

  • with defects in the fusion of the neural tube - hernia of the spinal cord or brain;
  • with defects in the fusion of the anterior abdominal wall, when its muscles and skin do not cover the internal organs, and the intestines and other organs are covered with a thin film of the stretched umbilical cord (gastroschisis);
  • with anomalies of the kidneys;
  • with duodenal obstruction.

It must be said that an increase in the amount of AFP by 2.5 or more times compared with the average for this period pregnancy. So, for example, with anencephaly (absence of the brain), the level of AFP increases by approximately 7 times.

But a change in the level of AFP does not necessarily indicate any pathology of the fetus. It can also be observed in conditions such as the threat of termination of pregnancy in fetoplacental insufficiency, when the blood flow between the placenta and the fetus is disturbed, as well as when multiple pregnancy, during which this protein is produced by several fruits.

In 30% of cases of chromosomal disorders, when the fetus has additional chromosomes in one or another pair, which leads to the formation of multiple malformations (Down, Edwards, Shereshevsky-Turner syndromes), the AFP level is reduced.

HCG is a protein produced by the cells of the chorion (the chorion is the part of the embryo from which the placenta is later formed). This protein is detected in the body of a woman from the 10-12th day after fertilization. It is its presence that allows you to confirm the onset of pregnancy with a test at home. The reaction that occurs on the test strip is qualitative, that is, it indicates the presence or absence of hCG. quantitative determination of hCG allows you to judge the course of pregnancy: for example, with an ectopic or non-developing pregnancy the rate of increase in hCG does not correspond to the norm. At the beginning of the second trimester, the level chorionic gonadotropin used as one of diagnostic features malformations and chromosomal pathology of the fetus.
HCG level in the blood of a pregnant woman with Down syndrome usually increases, and with Edwards syndrome (a disease characterized by multiple malformations internal organs and mental retardation) - decreases.

E3. Estriol production begins in the fetal liver and ends in the placenta. Thus, both the fetus and the placenta take part in the "production" of this substance. According to the concentration of E3 in the blood serum of a pregnant woman, one can judge the condition of the fetus. Estriol levels normally rise during pregnancy.

WHEN, TO WHOM AND HOW THE TRIPLE TEST IS CARRIED OUT

A triple test is carried out at a gestational age of 15 to 20 weeks. At this time, the indicators of markers of genetic pathology are the most standardized, that is, they are the same for all women whose pregnancy is proceeding normally. Many medical institutions are testing AFP and hCG ( double test) or only AFP. I would like to emphasize that in the study of any one component of the triple test, the diagnostic significance of the study decreases, since the deviation from the norm of only one of the indicators cannot reliably indicate fetal pathology. In general, the diagnostic value of the triple test is up to 90% for the detection of malformations of the nervous system, 60-70% for the detection of chromosomal diseases.

Currently, examination for markers of genetic pathology is mandatory for all pregnant women, but, unfortunately, the equipment of ordinary state medical institutions(women's consultations) in most cases allows you to examine only one or two components of the triple test. If abnormalities are found, the patient is referred to a geneticist for further examination.

There is a group of pregnant women who are prescribed a genetic consultation regardless of the test results: this is the so-called risk group, in which the likelihood of children with congenital malformations and chromosomal pathology is higher than in the general population.
Risk factors include:

  • woman over 35 years of age
  • cases of familial carriage of chromosomal diseases,
  • the birth of previous children with malformations,
  • radiation exposure of one of the spouses,
  • taking cytostatics or antiepileptic drugs,
  • habitual miscarriage,
  • determination of signs of fetal pathology by ultrasound.

If deviations are found, it is advisable to repeat the analysis; if at the same time the indicators continue to decrease or increase, additional studies are carried out. It is better to take the test at the beginning of the specified period, i.e. at 15-16 weeks, in order to be able to repeat the examination if necessary and confirm or refute certain assumptions.

Of particular concern is a decrease in AFP in combination with a persistent increase in the level of hCG. This combination makes it possible to suspect the presence of Down syndrome in a child. But only in 60% of cases, women carrying a fetus with Down syndrome have pathological indicators of a triple test; in 40% of cases, there are no deviations in laboratory parameters.

It should be emphasized that the study of markers of genetic pathology is a screening, that is, it is carried out for all pregnant women to identify a risk group (in other words, you may not suspect that this analysis was taken from you as part of a general pregnancy examination).

Patients from the risk group undergo a more detailed diagnosis of fetal malformations, chromosomal pathology: as part of medical genetic counseling, they are prescribed an additional ultrasound examination, and offer methods of invasive (with penetration into the amniotic cavity) diagnostics. by the most authentic way diagnosis is the study of the chromosomal set of fetal cells. To obtain fetal cells, the anterior abdominal wall is pierced with a thin needle, amniotic fluid is taken, which contains fetal cells (amniocentesis) or umbilical cord blood of the fetus (cordocentesis). When conducting invasive diagnostic methods, the risk of fetal loss increases significantly; in addition, as with any surgical intervention, there is a risk of infection. Therefore, invasive techniques are contraindicated in case of a threatened abortion and in acute infectious diseases.

Considering the time frame in which it is customary to produce a triple test, sometimes the question arises of the appropriateness of this analysis, because the timing of a medical abortion is limited to the 12th week. In this regard, it should be remembered that every woman who carries a baby under her heart at one stage or another of pregnancy is visited by doubts about the usefulness of the unborn child. A triple test will help you dispel unpleasant thoughts, and if changes in markers of the genetic pathology of the fetus are detected, additional examinations will be completed on time. If unpleasant assumptions are confirmed, it will be possible to terminate the pregnancy, or at least prepare for the fact that immediately after birth the child may need surgical intervention, allowing to correct the detected malformations. At the same time, remember that the doctor has the right to offer one or another variant of pregnancy management, and in any case, the final decision is made by the family.