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At times, almost every woman experiences discomfort before her period. This may include painful sensations in the chest, depression, irritability, and acne on the face. Contrary to popular belief, few women - less than 10% - suffer from very severe pain before menstruation (the so-called premenstrual syndrome), due to which they can lose their jobs and separate from loved ones.

Causes of pain before menstruation: Is pain before menstruation a consequence of hormonal imbalance or is it due to psychosocial reasons? There is very strong evidence that pre-period pain is related to hormones, as levels change during the week leading up to your period. female hormones, estrogen and progesterone (excess estrogen and lack of progesterone in the second phase of the menstrual cycle), and during menopause, previously monthly recurring symptoms disappear - hormonal theory.

The theory of "water intoxication" explains the cause of pain before menstruation changes in the renin-angiotensin-aldosterone system and high level serotonin. Activation of the renin-angiotensin system increases the levels of serotonin and melatonin. Estrogens can also cause sodium and fluid retention in the body by increasing aldosterone production.

Prostaglandin disorder theory explains a lot various symptoms premenstrual syndrome by changing the balance of prostaglandin E1. Increased expression of prostaglandin E is observed in schizophrenia due to changes in brain excitation processes.

The main role in the pathogenesis of pain before menstruation is played by disorders of neuropeptide metabolism(serotonin, dopamine, opioids, norepinephrine, etc.) in the central nervous system and related peripheral neuroendocrine processes. IN last years Much attention is paid to peptides of the intermedial lobe of the pituitary gland, in particular melanostimulating hormone of the pituitary gland.

This hormone, when interacting with beta-endorphin, can promote mood changes. Endorphins increase the level of prolactin, vasopressin and inhibit the action of prostaglandin E in the intestines, resulting in breast engorgement, constipation and bloating.

The impetus for the appearance of pain before menstruation can be abortion, tubal ligation, unsuccessful hormonal contraception, infectious diseases, pathological pregnancy and childbirth. All these events that happen in the life of almost every woman can lead to the same “breakdown” - a decrease in the level of natural progesterone, which is produced by the ovaries in the second half of the menstrual cycle.

Some researchers have studied the possible connection between premenstrual pain and thyroid dysfunction, seasonal affective disorder, and circadian rhythm disorders, which are treated with dosed, full-spectrum bright light. But to this day, the cause of period pain remains as mysterious as it was in 1931, when obstetrician-gynecologist Robert Frank, MD, first used the term “premenstrual syndrome” to describe the cyclical psychological disorder that plagued his patients.

Premenstrual syndrome (PMS)- totality pathological symptoms, appearing a few days before menstruation and disappearing in the first days of menstruation. Premenstrual syndrome is mainly manifested by dysfunction of the central nervous system, vegetative-vascular and metabolic-endocrine disorders.

Symptoms of premenstrual syndrome include irritability, depression, tearfulness, aggressiveness, headache, dizziness, nausea, vomiting, pain in the heart, tachycardia, breast engorgement, swelling, flatulence, thirst, shortness of breath, increased body temperature. Neuropsychic manifestations of premenstrual syndrome are reflected not only in complaints, but also in the inappropriate behavior of patients.

Depending on the predominance of certain symptoms, neuropsychic, edematous, cephalgic and crisis forms of premenstrual syndrome are distinguished.

1. B clinical picture The neuropsychic form of premenstrual syndrome is dominated by irritability or depression (in young women depression often predominates, and in adolescence aggressiveness is noted), as well as weakness and tearfulness.

2. The edematous form of premenstrual syndrome is manifested by severe engorgement and tenderness of the mammary glands, swelling of the face, legs, fingers, and bloating. Many women with the edematous form experience sweating and increased sensitivity to odors.

3. The cephalgic form of premenstrual syndrome is clinically manifested by an intense throbbing headache radiating to the eyeball. The headache is accompanied by nausea and vomiting, and blood pressure does not change. A third of patients with the cephalgic form of premenstrual syndrome experience depression, pain in the heart, sweating, and numbness of the hands.

4. The crisis form of premenstrual syndrome is associated with sympathetic-adrenal crises. The crisis begins with a rise blood pressure, there is a feeling of pressure behind the sternum, fear of death, and palpitations. Typically, crises occur in the evening or at night and can be triggered by stress, fatigue, or an infectious disease. Crises often end with profuse urination.

Depending on the number, duration and intensity of symptoms, mild and severe premenstrual syndrome are distinguished. With mild premenstrual syndrome, 3-4 symptoms are observed, 1-2 of them are significantly pronounced. Symptoms appear 2-10 days before the start of menstruation. With severe premenstrual syndrome, 5-12 symptoms occur 3-14 days before menstruation, and 2-5 of them are pronounced.

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Does your body hurt before your period? It is necessary to take a very careful approach to your overall health. People don't pay enough attention symptoms of diseases and do not realize that these diseases can be life-threatening. There are many diseases that at first do not manifest themselves in our body, but in the end it turns out that, unfortunately, it is too late to treat them. Each disease has its own specific symptoms, characteristic external manifestations- so called symptoms of the disease. Identifying symptoms is the first step in diagnosing diseases in general. To do this, you just need to do it several times a year. be examined by a doctor, in order not only to prevent a terrible disease, but also to maintain a healthy spirit in the body and the organism as a whole.

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It is rare to meet a woman who feels comfortable on the eve of her period. Everyone has experienced pain before menstruation at least once in their life. Depending on the state of health and individual characteristics of the body, unpleasant sensations in the lower abdomen include hormonal imbalances, cyclic changes in the internal genital organs, premenstrual syndrome, and hidden diseases. Whether you should worry if unwanted symptoms occur depends on their nature and intensity. The presence of severe cramps, severe painful periods, can be a signal of a dangerous condition and is always a reason for a thorough medical examination.

The line between normal and pathological in the development of pain symptoms before and during the menstrual cycle is quite thin. The concept " strong pain“has its own meaning for every woman. In women with low and high pain thresholds, the same sensation evokes different responses. The former literally fall off their feet from unbearable pain, which for the latter seems quite bearable. For this reason, just describing pain symptoms causes difficulty for doctors; it is necessary to record other features.

There are many reasons why you feel worse before menstruation:

• Premenstrual syndrome (PMS). It is a mistake to believe that signs of approaching menstruation appear within 1–2 days. They often occur within a week or less. Characteristic manifestations for the majority: aching or lingering pain in the lower abdomen, accompanied by autonomic or neurological symptoms. PMS, from a medical point of view, is not a pathology if it causes symptoms of low intensity and does not disrupt the usual routine.
• Hypothermia. The habit of wearing light, out-of-season clothes and shoes, and forced prolonged exposure to the cold often lead to subsequent vasospasm in the pelvic area and pain before the onset of menstruation.
• Exhausting exercise stress. Working hard, playing sports, or lifting heavy objects the night before your period almost always results in pain.
• Insufficient physical activity. The habit of sitting in one place for a long time, a dislike for walking and walking cause poor circulation and congestion in the pelvic area, which is one of the factors provoking pain.
• Gastrointestinal pathologies. Irritable bowel syndrome, dysbiosis, colitis worsen before menstruation, bloating, flatulence, and colic appear.
• Obesity. Excess internal adipose tissue in the abdominal cavity leads to changes in hormonal levels and increases blood stagnation in the genitals, which manifests itself in pain before menstruation.
• Intrauterine devices. These contraceptives have many disadvantages, including frequent manifestations of algodismenorrhea.
• Gynecological disorders. One of the common conditions that causes pain before menstruation is endometriosis - the growth of the epithelium lining the uterine cavity beyond its limits. Deviation of the organ back or its physical underdevelopment invariably leads to pain before the start of the cycle.
• Complications after surgery on the pelvic organs or after difficult childbirth. The presence of scars and other destructive tissue changes often cause acyclic and premenstrual pain.
• Inflammation and pain in the kidneys. Many forms of nephritis worsen on the eve of menstruation.

The question of whether a healthy woman can have a stomach ache before menstruation causes a lot of discussion in medical circles. The majority is of the opinion that physiological pain is always of low intensity, vague in nature, and should not be perceived as stabbing, cutting or tugging.

What diseases cause pain before menstruation?

Pathological pain before the onset of menstruation is not always secondary; it can occur immediately after the formation of the cycle. In these cases they talk about congenital health disorders. Finding out the real cause of deterioration in health in adolescents and young girls is not easy, especially if an external examination and general laboratory tests do not indicate the presence of disorders.

Common diseases that may cause primary pain before menstruation:

• insufficient endocrine activity of the ovaries, adrenal glands, pituitary gland;
• connective tissue dysplasia.

In such conditions, pain begins to develop a week or earlier before the expected cycle, severe premenstrual syndrome with many somatic and nervous symptoms is likely:

• dizziness, headaches, migraines;
• blood pressure surges;
• heavy sweating;
• numbness of fingers;
• violation of thermoregulation;
• tachycardia;
• general swelling;
• the appearance of extra pounds;
• indigestion.

Often the bones and the whole body ache, the skin turns pale or red, and nagging pain of moderate or severe intensity appears in the abdomen.

With endometriosis, a typical sign, in addition to painful symptoms, is the specific nature of the discharge: it begins and ends with dark brown clots, indicating the presence of endometrial cells outside the uterine cavity.

It is very dangerous if sharp tearing or cramping pains appear suddenly shortly before your period. This may indicate progressive fibroids, an ectopic pregnancy, or an incipient miscarriage.

Adhesions in the pelvic area, salpingoophoritis, and cysts cause severe ovarian pain in almost all cases of morbidity. Algomenorrhea is often accompanied by disturbances in the menstrual cycle itself - delays in the onset of menstruation from several days to two or more weeks.

Many sexually transmitted infections occur latently, and in advanced cases they affect the uterus and appendages. A few days before the start of menstruation, under the influence of hormonal shifts, the pathogen is activated, causing a number of negative symptoms: severe itching and swelling of the external genitalia, burning, physical discomfort, the presence of strange discharge - abdominal pain can also appear for these reasons.

Diseases not related to gynecology, in which severe pain appears during the premenstrual period:

• acute or chronic appendicitis;
• intestinal obstruction;
• varicose veins of the small pelvis;
• passage of a stone from the bladder or ureter.

If these pathologies are associated with PMS, pain in the abdominal cavity can be mistaken for strong contractions of the uterus before menstruation.

To determine why your stomach hurts before your period, you need to undergo a detailed examination. As a rule, it begins with taking an anamnesis. The doctor interviews the patient, finding out during what period the negative signs appeared, as well as:

• pain occurs regularly or occasionally, what is its nature;
• are there any other symptoms;
• whether the patient uses barrier and other types of contraception;
• are there problems in sex life, if yes, then which ones;
• whether inflammatory or infectious diseases were previously detected, whether there were pregnancies, abortions, childbirth.

For laboratory general and biochemical studies, samples of urine, blood, scrapings from the mucous membrane of the vagina and cervix are required. Bacterial culture, ELISA, or PCR may be required if there is reason to suspect that pain in the lower abdomen is the result of an infectious lesion.

To clarify possible pathologies of internal organs for any type of symptoms, an ultrasound is prescribed. The doctor evaluates the location and shape of the uterus, the condition of the endometrium, ovaries, patency of the fallopian tubes, and identifies signs of inflammation or changes. IN difficult cases diagnostic laparoscopy is performed.

If there is reason to believe that the pain that occurs is a consequence of intestinal diseases and pain, a colonoscopy or MRI is performed.

A sensitivity test may be performed to determine the pain threshold. nervous system women on a skin fold using an algesimeter.

In some cases, diagnosis can take up to several months.

Pain before menstruation

Normal premenstrual syndrome in the absence of any diseases does not cause pronounced pain. Discomfort characteristic of this period is a feeling of tension or blurred, not clearly localized, compression in the lower abdomen. The symptoms do not intensify during movement or in a certain position; they may be accompanied by slight muscle weakness, mood changes, and drowsiness. There may be an increase in nipple sensitivity. Symptoms may appear a day or several days before menstruation, every month at the same period.

Pathologically occurring PMS manifests itself in different ways and is part of algomenorrhea. Severe pain often appears not only before menstruation, but also long before it, as well as in the middle of the cycle. The sensations are cramping or aching in nature, cover the entire abdominal cavity, radiate to the lower back, anus, buttocks, and upper thighs. The pain responds poorly to analgesics. Premenstrual pain can be accompanied by unpleasant symptoms: gastrointestinal upset, nausea, cramps of the lower extremities.

Excruciating cutting pain at one point, forcing you to bend in half or look for a suitable position, is never a consequence of premenstrual syndrome. This may be a sign of appendicitis, renal colic, rupture of a cyst, fibroids, or fallopian tube.

You can take any medications only if you are sure of the cause of the pain, that is, after undergoing diagnostics. Otherwise, your physical condition may worsen.

For existing endocrine dysfunctions, diseases of the ovaries, and thyroid gland, hormone replacement therapy and vitamins B, A, E are usually prescribed. ascorbic acid in medicinal dosages. These can be injections or vitamin-mineral complexes and special dietary supplements.

Inflammatory diseases of the genitourinary area require a course of antibiotics. If the cause of pain of a cutting or sharp spasmodic nature is systemic or intestinal diseases, it is impossible to do without restoring the normal functioning of diseased organs with the help of special medications.

In case of severe PMS, a set of measures is needed to help correct outflow disturbances menstrual blood, preventing swelling in the genital area and eliminating symptoms. For this, a course of physiotherapy is prescribed: electrophoresis, ultraviolet and laser irradiation. Analgesics and antispasmodics are used to help relieve severe pain attacks. Recommendations include: therapeutic exercises, massage, herbal medicine. Well relieves premenstrual pain and relieves others PMS symptoms decoctions of sage, knotweed herb, cinquefoil root, yarrow, shepherd's purse.

Swimming, dancing, skiing, and aerobic types of physical activity have an excellent therapeutic effect.

Pain before menstruation is a reason to contact a medical facility, especially if the symptom is periodic. The first doctor you need to see is a gynecologist. Based on the results of the examination, the complaints made and the tests obtained, a consultation with an endocrinologist, neurologist, or psychotherapist will be required, since most often abdominal pain before menstruation is hormone-dependent or neurogenic in nature. During the examination, the patient may be referred to an osteopath, surgeon, gastroenterologist, or geneticist.

Very severe pain before the onset of menstruation is not normal, but indicates the presence of hormonal disorders, genetic abnormalities, defects in the physiological development of the reproductive system, or hidden diseases. To get rid of suffering and prevent serious complications, you need to respond in time to any changes in your usual state of health and seek help from specialists.

Symptoms of pain before menstruation

Premenstrual syndrome (PMS) refers to a group of pathologies that appear before menstruation and disappear with the onset of bleeding. The syndrome is caused primarily by dysfunctions of the central nervous system, vegetative-vascular or metabolic-endocrine pathologies.

PMS is characterized by: causeless irritation, weakness and dizziness, nausea, depression, tearfulness, manifestations aggressive behavior, heart pain, discomfort in the chest and lower back, swelling, flatulence, shortness of breath. Some women exhibit inappropriate behavior.

Symptoms of pain before menstruation are divided into neuropsychic, edematous, cephalgic and crisis manifestations.

The neuropsychic form is characterized by depressive states, increased irritability, aggression, weakness and tearfulness.

The edematous form of premenstrual syndrome includes engorgement and breast enlargement. The face, legs, and fingers may swell. Often women experience an increased response to odors, increased sweating, and bloating.

Cephalgic changes include an intense, throbbing headache, often radiating to the eye area. Pain in the heart area, nausea, vomiting, profuse sweating or numbness of the extremities are observed.

The crisis form of PMS is characterized by sympathetic-adrenal crises. Signs of the process are increased pressure, a pressing sensation in the chest area, accompanied by fear of death and increased heart rate. The pathology manifests itself more often in the dark due to stress, severe fatigue, and due to an infectious disease. Often the end of a crisis is accompanied by active urination.

Based on the frequency, strength and duration of symptoms, premenstrual syndrome is classified as mild or severe. The mild form has no more than 4 symptoms, of which 1-2 are clearly expressed (manifest within 2-10 days). The severe syndrome includes from 5 to 12 unpleasant conditions, with 2-5 of them being the most pronounced (detected a maximum of 14/minimum 3 days before the onset of menstrual bleeding).

Most representatives of the fair sex are familiar with the feeling of engorgement and increased sensitivity of the mammary glands before the onset of menstruation. The breast increases in volume, the tissues of the organ become denser. This is due to blood flow and swelling of the glands. The reason that causes breast pain before menstruation is a change in hormonal balance.

Periodic breast tenderness or mastodynia is a natural process. The mammary glands are hormone-dependent organs. Progesterone and estradiol produced by the ovaries lead to monthly changes in the glands. The second part of the cycle occurs under the influence of progesterone, which increases the amount of glandular tissue in the breast (preparation for pregnancy and lactation), causing it to thicken. The norm is slight pain in the chest area.

Mastodynia is treated in combination with other symptoms - headache, surges in blood pressure, severe swelling of the limbs, psycho-emotional disorders, etc. A complex effect is prescribed taking into account the severity of the pain syndrome, including:

• following a salt-free diet while limiting fluids and excluding products that stimulate the nervous system (coffee, a number of spices, strong tea, alcoholic beverages, chocolate, etc.);
• proper sleep and rest schedule;
• mandatory walks;
• hardening procedures;
• exposure to psychotherapy methods;
• drug treatment.

Reactions occurring in the body at the hormonal level cause headaches before menstruation. The appearance of pain of varying intensity before and its disappearance after menstruation is considered a normal physiological process.

Biochemical changes in the body affect the cycle of hormonal changes. As a result, pain in the head of varying intensity often appears, radiating to the eyeball, sleep disturbances, dizziness, and fainting develop.

The hormone estrogen plays a leading role in increasing women's susceptibility to stress factors, which in turn provoke the development of menstrual migraine. The process is especially painful against the background of circulatory disorders, usually with vomiting, increased sensitivity to light and noise. Acute attacks may occur as a result of taking estrogen-containing contraceptives.

Down syndrome is a common genetic abnormality. Statistics show that out of 700 newborns, 1 is born with a similar pathology. It doesn't depend on race climate zone, skin color and nationality.

During pregnancy, diagnosis of an additional chromosome
Planning inside planned
camera photography

Children with Down syndrome are born with the same frequency; during pregnancy, a woman may not be aware of the pathology, but it is possible to determine this anomaly.

The word "syndrome" implies the presence of a certain characteristic or characteristic feature. He was named after the doctor who described this anomaly, John Langdon Down. The syndrome arose as a result of an anomaly, a disruption in the process of cell division. This syndrome occurs when the body has an extra chromosome. This chromosome can affect the body and the overall development of the baby.

Nature dictates that a person has 46 chromosomes in each cell; they have an equal proportion of genetic information from their parents. A person born with this syndrome has an extra chromosome, and its origin is still a mystery.

These children have delayed development, physical and mental. This pathology can also be accompanied by a number of other diseases. It is more difficult for them to adapt to our world; it is more difficult for children to study alongside their peers. But, nevertheless, there are cases when a person lives a relatively full life, goes to school, plays sports.

Experts know how to use tests to recognize that a child will be born with Down syndrome even during a woman’s pregnancy. The test is done for many reasons. More than 90% of women terminate their pregnancy after receiving the diagnosis. More than 92% of couples abandon their child at birth. More than 30% of cases end in miscarriage.

To reassure yourself, it’s enough to get tested regularly

Only a small percentage of children with this diagnosis can fully live in harmony and understanding with loved ones. Many people with the syndrome live to be 60 years of age or more. Life expectancy is affected by a disease - heart disease.

Main signs of anomaly

Now it is possible to determine pathology in the early stages. When performing an ultrasound, which is scheduled to be performed from the 14th week of pregnancy, a specialist may detect a violation in the formation of the baby’s structure:

• by expansion of the collar zone, which exceeds the norm by more than 5 mm;
• echogenicity (too bright image on the ultrasound machine monitor) of the intestines;
• the presence of heart disease.

Also, signs by which Down syndrome can be identified during pregnancy may be dilation of the renal pelvis, the formation of a choroid plexus cyst in the brain. The specialist will immediately note that the fetus is missing a nasal bone and has neck folds. They mean that subcutaneous fluid accumulates there. This is all characteristic features pathology.

Sometimes you can see wide lips, a flat tongue that will have a longitudinal groove. The head shape will be round and have a slightly sloping forehead. The neck of such a child is short, and the earlobes grow to the head. Thanks to ultrasound during pregnancy, it is not difficult to identify Down syndrome.

Final diagnosis can only be made after the 5th month of pregnancy. The syndrome is easily recognizable and has its own differences in appearance. The child will have slanted eyes and a flat face on an ultrasound. The woman also undergoes certain tests that can also determine pathology. They are taken from 11 to 13 weeks of pregnancy.

Risk of developing pathology

The syndrome is not a disease, it is a pathology that cannot be prevented or cured. The child has an additional chromosome on chromosome 21, as previously described, for a total of 47.

Extra chromosome

In women over 36 years of age, the likelihood of an anomaly increases (1 in 30). Therefore, it is so important to take blood tests on time and undergo routine examinations during pregnancy - this will help to identify Down syndrome in a timely manner and help make a decision in a timely manner.

The main risk factors are:

• the age of the mother, but this is a non-critical factor, often such children are born to young women, the age of the father does not particularly affect the syndrome - this is due to the fact that the man’s cells are renewed every 72 days;
• female eggs, starting from the moment of birth, absorb all toxins, harmful chemicals, unhealthy lifestyle - alcohol, cigarettes, all this negatively affects future pregnancy;
• if a family has a “special” child, there is a small percentage that the second child will have the same anomaly;
• The risk of developing Down Syndrome also increases if the spouses are consanguineous;
• exposure to radiation, heavy metals;
• it is believed that if a grandmother gave birth to her daughter over 37 years of age, there is a possibility that her grandchildren will have such a pathology.

Causes of pathology formation

As such, there are no exact reasons for the development of such a syndrome. A child with such a deviation can be born to a completely healthy, young couple. But, nevertheless, the main criteria are identified when a woman during pregnancy can be diagnosed with fetal pathology with Down syndrome:

• woman's age under 18 and over 35 years;
• formation of an additional chromosome;
• heredity;
• maternal health;
• marriages between relatives.

There are three types of syndrome:

• standard trisomy is a complete tripling of chromosome 21, this type of pathology is the most common, it can be found in more than 92% of cases;
• chromosome translocation - this type of anomaly can be inherited from parents, it can be found no more often than in 5% of cases;
• mosaic form - occurs in only 2%, with this type of pathology the tripled chromosome is located in individual cells of the body, sick people have the usual appearance and intellectual development, but they are more likely to have a child with Down syndrome.

It is still impossible to determine the exact reasons why pathology develops during pregnancy. But, nevertheless, anomalies are happening more and more often. It has also been noted that in more developed cities there are slightly fewer cases of births of “sunny” children. Perhaps factors such as the environment, level of income or nutrition are important here.

Planning for Healthy Children

In order to give birth to healthy children, parents need to take care in advance.

1. It is necessary to undergo consultation with genetic specialists.
2. Perform perinatal (prenatal) diagnostics. It includes ultrasound, determination of the level of alpha-fetoprotein in the blood serum of a pregnant woman, amniocentesis, chorionic villus biopsy, cordocentesis ().

Full diagnostics

• families whose pedigree has a predisposition to hereditary diseases;
• women who have experienced several spontaneous miscarriages should undergo screening during their next pregnancy to identify the risk of developing Down syndrome in the fetus;
• who had cases of stillbirth;
• if the future parents have recently been exposed to radiation, close contact with chemicals, or work in hazardous work;
• those who took drugs with a teratogenic effect (causes mutations in genes);
• those who lead an unhealthy lifestyle;
• men over 45 years old.

After consultation with genetic specialists, it is necessary to conduct a perinatal diagnosis, the purpose of which is to determine the health of the baby in the womb.

Planning for a healthy baby

It is necessary to determine the time that has passed since the cessation of contraception. Experts believe that after a woman stops taking oral contraceptives or after the IUD is removed, it is necessary to refrain from conceiving for at least 2 to 3 cycles. During this period, hormonal balance is normalized, which is affected by the use of contraceptives. The walls of the uterus and the activity of the fallopian tube are restored. In general, the body is ready for subsequent pregnancy; the risks for diagnosing a pathology, such as Down syndrome, become less.

You need to wait until after the baby is born. Doctors recommend that the period between births be at least two years. If a woman has experienced C-section, it is especially necessary to observe the time interval. You also need to take into account the gap between feeding and conception (at least 6 months must pass).

Tests to detect pathology

At the beginning of pregnancy and several months before it, doctors recommend starting to take vitamins, especially folic acid. This is necessary so that the woman’s body is prepared to bear a child. And also in order to minimize the development of pathologies.

After a woman becomes pregnant, after a certain period of time she will undergo a routine examination. It is also necessary to take tests to detect the formation of pathology during pregnancy.

Basic tests that can show that the fetus is developing Down syndrome:

• An ultrasound is performed from 10 to 13 weeks of pregnancy - the width of the cervical translucency and the nasal bone are examined;
• take a blood test for hCG (chronic gonadotropin) from 10 to 13 weeks, for AFP (Alpha Feto Protein) from 16 to 18 weeks (AFP is a substance that is synthesized by the child’s liver, transferred to the amniotic fluid and then into the mother’s blood);

Future parents, especially those over the age of 35, are concerned about the issue of chromosomal abnormalities in the fetus. If there is a suspicion of the development of Down syndrome, signs during pregnancy will be noticeable from the 10th to 14th week. However, to confirm the diagnosis, detailed diagnostics and special screening tests will be required, so there is no need to worry in advance.

Read in this article

What is Down syndrome

Down syndrome is a pathology caused by a violation of the chromosome set that a child receives from his parents. People with this pathology have an extra 47th chromosome, but normally there should be 46. According to statistical studies, this deviation occurs in one out of 700 newborns. Factors that influence chromosome disorder in the fetus are:

• age of the child's parents;
• the age of the grandmother at which she gave birth to her daughter (mother of the newborn);
• Availability family ties between spouses.

Down syndrome is found everywhere and has no ethnic or gender divisions. This can occur in people of both sexes and of any nationality. If there are suspicions about the possible development of a pathology in a child, it is worth taking it at the planning stage.

With age, the risk of having a child with chromosomal abnormalities increases significantly:

• at 20 years of age the probability is 0.07% (1 child in 1,500 children);
• at 40 years of age the probability reaches 1% (1 child in 100).

If a woman gives birth to a daughter over the age of 35, future grandchildren from this girl may be born with Down syndrome. It cannot be prevented or cured, so it is not considered a disease, but a pathology.

State environment, parents' lifestyle, reception medicines cannot provoke the development of pathology in the embryo.

How deviations are determined

There are several methods that allow one to determine with varying accuracy the presence of chromosomal abnormalities in the fetus. Moreover, the more complex the diagnosis, the more reliable results can be expected. However, there is a certain risk of complications due to medical intervention.

Amniocentesis: examination of amniotic fluid

For a long period, it was used to diagnose an extra chromosome in a fetus. The procedure involves puncturing the woman's abdomen with a thin needle, through which amniotic fluid is drawn. Based on a study of its composition, conclusions are drawn about the presence of a hereditary disease.

The fetal liver produces a special protein (AFP, alphafetoprotein), which enters the amniotic fluid. If the protein level is below normal, this indicates abnormalities (the fetus has an extra chromosome). Amniocentesis is performed only if the expectant mother is at risk ( mature age women in labor).

Chorionic villus biopsy is the most accurate result

This test allows you to reliably determine whether the fetus has a chromosomal abnormality or not. The procedure is carried out under the control of an ultrasound machine. A special probe with a speculum is inserted through the woman's vagina, with the help of which a thin flagellum of chorionic villi is removed. The cells of the placenta contain precise information about the structure of chromosomes and their number, which also makes it possible to determine the sex of the child.

Auxiliary screening tests for identifying hereditary pathologies

There are also additional tests that are used to diagnose an extra chromosome in the fetus. The AFP protein enters the amniotic fluid and then into the blood of the pregnant woman. Therefore, venous blood analysis expectant mother is also successfully used. Blood diagnostics for chronic human gonadotropin (hCG) and alpha-fetoprotein testing are carried out at 10–13 and 16–18 weeks, respectively. However, these studies are not accurate, they do not guarantee 100% reliability of the result.

What can be seen on an ultrasound

During pregnancy, signs of Down syndrome can be more or less accurately diagnosed by ultrasound, which is performed at 14 weeks. The main symptoms of deviations are:

• smaller fetal size compared to existing standards;
• presence of heart disease;
• violation of skeletal formation;
• expansion of the collar space (if it exceeds 5 mm from the norm);
• echogenicity of the intestine;
• one artery in the umbilical cord instead of two;
• increased fetal heart rate;
• dilation of the renal pelvis;
• the presence of a choroid plexus cyst in the brain;
• cervical folds (signal the accumulation of subcutaneous fluid);
• absence of the nasal bone or its shortening.

However, it should be understood that early It is impossible to reliably speak about the presence of pathology only on the basis of ultrasound data. About 20% of false positive results are noted. The most complete picture can be obtained through a comprehensive examination of a woman: ultrasound, blood test for hCG, AFP, free estriol, plasma protein A. This approach provides only 1% of false positive results.

By the end of the 5th month of pregnancy, a definitive diagnosis can be made. A child with Down pathology has distinctive appearance, some signs during pregnancy will be shown by an ultrasound machine, others will become noticeable after birth:

• slanted eyes;
• wide lips;
• reduction in the size of the upper jaw;
• flat, wide tongue with a longitudinal groove;
• round head, sloping forehead;
• saddle nose;
• flat face;
• small chin and mouth;
• low-set ears, attached lobe;
• wide short neck;
• rare hairline with straight soft hair;
• funnel-shaped (or keeled) shape of the chest;
• short crooked little finger;
• wide feet and hands (on the palms there is a single four-fingered transverse groove);
• shortened limbs;
• significant changes in internal organs;
• improper growth of teeth.

What to do if the fetus has Down syndrome?

For parents, such news comes as a bolt from the blue. It is difficult for them to come to terms with the fact that their child will not be like everyone else. They are tormented by a thousand questions, lost in doubts and worries. Unfortunately, it is not uncommon for fathers to abandon their wives who decide to leave the Sunny child. For some women the only possible option problem solution becomes . Those who are not afraid of difficulties will have to be very strong, because the culture of behavior of our fellow citizens, their attitude towards special people is still very far from tolerant. And yet I would like to note that Sunny children have enormous potential for development, they are joyful and affectionate. It is very important to find the key to their heart and understand the intricacies of psychology.

With help therapeutic exercises, massage, physiotherapeutic procedures, a child with Down syndrome can learn to care for himself. Sincere care and love will help the baby develop fully and find his place in life. There are known cases of successful careers of people with chromosomal disorders: citizens became public figures, athletes, actors. Down syndrome is not a death sentence, but a developmental feature.

It is impossible to diagnose whether a child has a pathology with 100% certainty. However, Down syndrome does have symptoms during pregnancy.

Certain tests, when combined with each other and risk factors such as age and family history, can give an estimate of the likelihood that a child carries the trisomy 21 gene. Ultrasounds of fetuses with Down syndrome are performed, and diagnostic tests are offered that determine whether the child carries gene, but they have a risk of miscarriage.

Under normal circumstances, a human cell contains 23 pairs of chromosomes, with each pair consisting of one chromosome from each parent. Down syndrome, also known as , occurs when a baby has an extra copy of chromosome 21 in some or all of its cells

Why it appears, the causes of Down syndrome (an additional complete or partial chromosome) in the fetus are still unknown. Age-related risk of trisomy 21 is the only proven factor. 80% of children with Down syndrome are born to women after 30 years of age.

Anyone can have a baby with a chromosomal abnormality

Contrary to popular belief, the child does not inherit Down syndrome.
The only type that can be passed from parent to child is the VNI translocation. However, it is a rare form that is diagnosed in early pregnancy.

Inheriting a translocation means that the father or mother has rearranged genetic material. This means that the person is a balanced carrier, one who has no signs or symptoms but can easily pass it on to a child.

Risks of trisomy

Talk to your doctor to find out if you are at risk for Down syndrome during pregnancy.
The expected risk of trisomy 21 is the underlying cause of Down syndrome in almost 95% of cases. In this case, the child receives three copies of chromosome 21 in all cells instead of two, one from each parent.

It occurs as a result of abnormal cell division while sperm or eggs are developing. People with this type have (47 instead of 46) in each cell.
Risk factors may vary depending on the type of abnormality.

Trisomy 21 basic risk:

• The risk of having a child with a genetic problem increases as a woman gets older.
• There is a previous pregnancy in which the fetus had Down syndrome. Women who have had a pregnancy with trisomy 21 have a 1-in-100 chance of having another similar child.

Mosaicism. This type is caused only by certain cells producing 47 chromosomes. Mosaicism occurs in 3 out of 100 people with Down syndrome. Risk factors for mosaicism are similar to those for trisomy 21.

Trisomy 21 individual risk occurs with translocation - the only one that can be transmitted through families. A person with this type has 46 chromosomes, but part of one chromosome breaks and then attaches to another chromosome.

You may be a carrier of a translocation chromosome if you have:

• Family history Down syndrome.
• Have had other children with this pathology.

Is it possible to detect Down syndrome using an ultrasound?

There is a small chance that a specialist will detect Down syndrome on an ultrasound. These include an increase in skin volume in the back of the head, a decrease in the size of the hip, or cysts in the brain. According to doctors, Down syndrome cannot be diagnosed by ultrasound. This test will not detect the expected risk of trisomy 21.

Ultrasound imaging at 20 weeks can be used to screen for Down syndrome in the fetus.

Echo signs of Down syndrome on ultrasound, which indicate an increased risk when observed in the second trimester of pregnancy.

A fetus with Down syndrome may have a small or absent nasal bone, large cerebral ventricles, a thick nuchal fold, and an abnormal right subclavian artery.
The presence or absence of many signs is more accurate.

Today on the site for moms we are looking at a serious question - Why do expectant mothers need screening for Down syndrome? Find out the details of this procedure.

Some statistics

Unfortunately, Down syndrome is one of the most common chromosomal disorders, Therefore, expectant mothers are recommended to do a test to determine defects in the development of the fetus.

Today, more and more pregnant women have positive results Screening for Down syndrome and blood tests are in a high-risk group for having a baby with Down syndrome. Moreover, many of them are young girls whose ultrasound did not reveal any abnormalities.

However, the vast majority of women, if they do not dare to conduct further research, give birth to healthy babies. But pregnancy still proceeds under an alarming question mark.

According to statistics, children with Down syndrome appear on average only once in 600-800 cases. Moreover, for a mother under 30 years old and without genetic diseases in the family, the risk of having such children is very small (at 20 years old - one in 2000 newborns). Risk increases after age 35, and at 40, the probability of such a child being born is approximately 1:110.

It should be noted that about half of all cases of chromosomal abnormalities, including Down syndrome, end in natural miscarriages in the early stages of pregnancy (up to 8 weeks).

What screening tests are there?

There are many different screening tests, but not every Down syndrome screening is available in our country or in certain parts of it. If the test you choose is not available at a clinic where you live, you can pay to have it done where available.

the site reminds that blood test, ultrasound or a combination of these procedures are screening tests. They will not give a 100% guarantee of the birth of a healthy baby or with Down syndrome, but conducting such a test helps determine the need for diagnostic tests.

When hospitals order a diagnostic test, they usually assume from the minimum probability. Some believe that this minimum proportion equates to 1 in 150, and others - 1 in 250. That is, the chance that you will give birth to a baby with Down syndrome is 1 in 150 or 1 in 250. Regardless of the indicators that are accepted in your hospital , if your risk level is lower, the results of screening for Down syndrome will be considered negative. This means your baby is unlikely to be born with Down syndrome.

The test detects pregnancies at risk of chromosomal abnormalities. But it also identifies those pregnancies where there is no threat of developing Down syndrome. The result of such a test is called false positive.

Screening for Down syndrome in the first and second trimesters of pregnancy

During the period from 11 to 14 weeks of pregnancy, Ultrasound to calculate the thickness of the fetal nuchal space. There is also a blood test - it is often done in combination with the above ultrasound (the so-called double test). A blood test reveals the level of beta-hCG, as well as the amount of PAPP-A protein.

A woman wearing it has a different level from the norm. These tests are very accurate, but their accuracy increases if they are performed simultaneously. Then the probability of detecting a developmental defect in a child is 90-93 % .

Of course, the accuracy of the double test also depends on various factors (the qualifications of the doctor, the operation of the scanner, the time interval during these procedures).
Its advantages:

• The degree of accuracy is quite high
• There is time to think about what to do if discovered high risk Down syndrome, screening is designed for this. You can do nothing, or you can perform a diagnostic test
• A diagnostic test early in pregnancy, such as amniocentesis or chorionic villus sampling, provides more detailed information.

Flaw:

• A study to determine the thickness of the collar space, however, like a double test, due to high prices and lack of necessary materials, is not done in every regional hospital.

In the second trimester, prenatal screening for Down syndrome is based on blood test. It is carried out at 16-18 weeks, determining the level of certain blood parameters.
There are several types of tests:

• Double (detects the content of estriol and beta-hCG).
• Triple (detects the content of estriol, AFP and beta-hCG).
• Quadruple (detects the content of estriol, AFP, inhibin A and beta-hCG).

Its advantages:

• Getting your blood tested is not difficult.
• Blood tests are done in many laboratories.

Flaws:

• The accuracy will be lower than in the first trimester. Thanks to the double test, 59% of cases are detected, and the quadruple test – 76% of cases of the development of Down syndrome in the fetus.
• The results will be received in a long time. If the risk is high, you need to decide whether to do amniocentesis (sampling of amniotic fluid for research) to confirm or not.

The Internet describes various horrors after screening for Down syndrome...

Decide if you are ready to agree to risky procedure amniocentesis if you are at risk of developing Down syndrome? And if the diagnosis is confirmed, will you decide to terminate the pregnancy at such a time? later? In any case, you should give serious consideration before taking a screening test.