Pregnancy test showing two lines? Congratulations, very soon you will be able to fully experience all the delights of motherhood. However, do not forget that with the onset of pregnancy, a woman bears a great responsibility for the health of her unborn child. That is why, apart from healthy eating, emotional calmness and good rest, during the development of pregnancy by weeks, the expectant mother visits many doctors, is registered in the antenatal clinic, undergoes a large number of examinations, one of which is an analysis for down during pregnancy. Why do doctors strongly recommend this examination? In what cases is the likelihood of this pathology increased? What threatens to refuse to undergo a down test during pregnancy? We will try to answer these and other questions that concern many mothers.

Down Syndrome. What's this?

Down syndrome (trisomy 21 chromosomes) is a genetically determined pathology, the cause of which is the presence of an additional 47th chromosome in each cell of the body, instead of the prescribed 46, because normally, a child receives 23 chromosomes from each of the parents. This happens when a baby gets an extra chromosome 21 from its mother or father. According to statistics, for every 700 healthy children there is one newborn with Down syndrome, which can be detected by an analysis for down during pregnancy.

The prevalence of this chromosomal pathology does not depend on geographic location, race, gender, or other reasons. To date, some factors have been established, the presence of which increases the risk of pathology:

• Mother's age. The probability of having a child with Down syndrome in a mother under the age of 25 is 1 in 1400 births, at 35 years old - 1 in 350 births, at 40 years old the probability increases to 1 in 60 births, and after 50 - up to 1 in 12 births . Therefore, all women over 35 years of age are shown a NaDown analysis during pregnancy.
• Father's age. It has been found that the older future father, the higher the likelihood of the birth of a baby with Down syndrome.
• consanguineous marriages.
• Grandmother's age during her pregnancy. The later the grandmother gave birth to her daughter, the higher the likelihood of developing Down syndrome in grandchildren. The laying of eggs occurs in utero, so they can be influenced by various factors. Probably, while still in the womb, some of the woman's oocytes are damaged and acquire an additional 21st chromosome. The older the grandmother, the higher the risk of her daughter having sick children, and every year it increases, regardless of what the results of the analysis for down during pregnancy were.

Children with Down syndrome, to one degree or another, lag behind in mental and physical development. Pathology is very often accompanied by various malformations that significantly reduce the average life expectancy. In addition, these children have a weakened immune system, as a result of which they get sick very often. colds up to the development of pneumonia.

A positive test result for down during pregnancy is not a sentence. With timely assistance and proper care, a person with Down syndrome will be able to lead a full life, go to school and work, and create their own family. In this case, everything depends on the willingness of the parents to devote all their free time to such an unusual, but still dear baby.

Types of tests for down during pregnancy.

At this stage in the development of medicine, there are several types of examinations that allow you to calculate the likelihood of developing Down syndrome in an unborn child. The choice of method mainly depends on the gestational age. The result of a down test during pregnancy determines special program taking into account the duration of pregnancy and the age of the woman.

During gestation, all women who want to determine the degree of risk of developing genetic diseases in the fetus undergo non-invasive prenatal screening twice. This examination does not give a full guarantee of the presence or absence of a particular chromosomal pathology, but only determines the likelihood of its occurrence. It is possible to accurately diagnose "Down's syndrome" only after the birth of a child, based on external signs.

So, screening is carried out in the I and II trimester.

For the early diagnosis of Down syndrome, with a gestational age of 11-13 weeks, the following diagnostic methods are used:

• ultrasound examination of the uterus;
• biochemical blood test.

When performing an ultrasound, special attention is paid to the size of the collar zone, since in a fetus with Down syndrome, fluid accumulates subcutaneously in the back of the neck. In addition, pathology is characterized by underdevelopment, or total absence nasal bone in the embryo. According to statistics, in almost 70% of cases of detection of the disease, due attention was not paid to the nasal bone during ultrasound.

A biochemical analysis for down in pregnancy determines the level of β-hCG (human chorionic gonadotropin) and PAPP-A (plasma protein A associated with pregnancy). Such a study allows you to determine the pathology in 80% of the affected embryos.

In the II trimester, approximately at 16-18 weeks, a triple test is performed - an analysis for a down during pregnancy, which determines the level of AFP (alpha-fetoprotein), free estriol and β-hCG.

Alpha-fetoprotein is a special protein produced by the fetal liver. After entering the amniotic fluid, AFP enters the woman's veins. With the course of pregnancy, its amount constantly increases, reaching a maximum value by the 30th week of gestation. A low level of AFP, in accordance with the gestational age, may indicate the presence of Down's syndrome, and its increased amount may indicate a pathology of the neural tube.

All studies can show both false negative and false positive results. The accuracy of the methods ranges from 70-90%.

Amniocentesis is an invasive down test during pregnancy.

If, as a result of tests for downtime during pregnancy, a high risk of this pathology in the fetus was established, the woman is offered to undergo an invasive diagnostic method - amniocentesis.

Amniocentesis is a procedure for taking amniotic fluid for a more thorough examination. Such an analysis for down syndrome during pregnancy is carried out not earlier than the 18th week of pregnancy development and in the presence of amniotic fluid in sufficient quantities. After confirming the diagnosis with the help of amniocentesis, the woman must make her own decision: to give birth to her sick child or to terminate the pregnancy.

Future parents, especially those over the age of 35, are concerned about the issue of chromosomal abnormalities in the fetus. If there are suspicions about the development of Down syndrome, signs during pregnancy will be noticeable from the 10-14th week. However, to confirm the diagnosis, detailed diagnostics and special screening tests will be required, so you should not worry in advance.

Read in this article

What is Down Syndrome

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

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

Down syndrome is ubiquitous, it does not have ethnic and gender divisions. This can be observed in people of both sexes of any nationality. If there are suspicions about the possible development of pathology in a child, it is worth passing it at the planning stage.

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

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

The state of the environment, the lifestyle of parents, taking medications cannot provoke the development of pathology in the embryo.

How family composition can affect the birth of a child with Down syndrome

How deviations are determined

There are several ways that allow you to determine with varying accuracy the presence of chromosomal abnormalities in the fetus. Moreover, the more difficult the diagnosis, the more reliable results can be expected. At the same time, there is a certain risk of developing complications due to medical intervention.

Amniocentesis: examination of amniotic fluid

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

The fetal liver produces a special protein (AFP, alpha-fetoprotein), 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 of the woman in labor).

Chorionic villus biopsy is the most accurate result

This analysis 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 mirror is inserted through the vagina into the woman, with the help of which a thin flagellum of the chorionic villi is removed. Placental cells contain accurate information about the structure of chromosomes, their number, which also makes it possible to determine the sex of the child.

Auxiliary screening tests for the detection of hereditary pathology

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

What can be seen on an ultrasound

More or less accurately, it is possible to diagnose during pregnancy the signs of Down syndrome on an ultrasound scan, which is performed for a period of 14 weeks. The main symptoms of deviations are:

• smaller size of the fetus compared to existing standards;
• the presence of heart disease;
• violation of the formation of the skeleton;
• 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;
• rapid fetal heart rate;
• expansion of the renal pelvis;
• the presence of a cyst of the choroid plexus of the brain;
• neck folds (indicate the accumulation of subcutaneous fluid);
• absence of the nasal bone or its shortening.

However, it should be understood that at an early stage it is impossible to reliably talk 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 with 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 final diagnosis can be made. A child with Down's pathology has a 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 auricles, adherent earlobe;
• wide short neck;
• sparse hairline with straight soft hair;
• funnel-shaped (or keeled) shape of the chest;
• short crooked little finger;
• wide feet and hands (a single four-toed transverse furrow is noted on the palms);
• shortened limbs;
• significant changes in internal organs;
• abnormal growth of teeth.

What to do if the fetus has Down syndrome?

For parents, such news becomes just a bolt from the blue. It is difficult for them to accept, to realize that their child will not be like everyone else. They are tormented by a thousand questions, lost in doubts and worries. Unfortunately, it is far from uncommon for fathers to leave their wives who decide to keep the Sunny Child. For some women the only possible option troubleshooting becomes . Those who are not afraid of difficulties will have to be very strong, because the culture of behavior among our fellow citizens, their attitude towards special people still very far from tolerant. And yet I would like to note that Sunny children have great 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 the help of therapeutic exercises, massage, physiotherapy procedures, a child with Down syndrome can learn to take care of himself. Sincere care and love will help the baby to fully develop and find his place in life. There are cases of successful careers of people with chromosomal disorders: citizens became public figures, athletes, actors. Down syndrome is not a sentence, but a feature of development.

Having learned about the onset of a long-awaited pregnancy, a woman does not immediately realize what a difficult path she will have to go through. She must be registered with women's consultation, pass a lot of different tests to control your health, visit the offices of different doctors. But, in addition to all this, she will need to undergo a medical genetic examination in order to identify or refute congenital pathologies in a child in the womb. This examination includes a pregnancy Down test. In this article, we will tell you what this test is, why you should do it, and what to do if the result is positive.

Down syndrome is a genetic pathology from which no one can be 100% insured. A child can be conceived down simply because during the fertilization of the egg, not 46 chromosomes, but 47 will be connected. This may happen due to the fact that not 23 chromosomes, but 24 will take part in the fertilization process from one of the parents in the process of fertilization.

It is believed that one in 700 newborns today is born with Down syndrome. He differs from the rest of the children in such indicators:

• the baby has a flat face and the same back of the head
• shortened skull
• very large neck fold
• too mobile joints
• short arms and legs
• short nose and flat nose
• lags behind in mental and physical development
• has many malformations of internal organs

Doctors have found that children with this pathology are born most often to parents who:

• over 35 years old - and this applies not only to women, but also to men;
• entered into a closely related marriage (if they are, for example, brother and sister, niece and uncle);
• if the grandmother of a pregnant woman gave birth to her mother in too late age, then she may have children with Down syndrome.

Even if a woman is not included in the risk group, the gynecologist still sends her to be examined for the presence of genetic diseases in the child. Next, we will tell you in detail which tests you need to take and for how long for Down.

Tests for Down syndrome during pregnancy: types

A pregnant woman twice during the entire period of bearing a child must pass several tests for Down:

• In the first trimester - from 10 to 12 weeks
• In the II trimester - from 18 to 20 weeks

Down analysis is called genetic screening, because it includes several mandatory studies (the price of Down analysis in all genetic centers is different, as a rule, it fluctuates around 1500-2000 rubles):

1. Ultrasound - on it the doctor examines:

• collar space of the child (measures the thickness of the neck fold, if it is more than normal, it means that fluid accumulates in it, which is typical for children with Down syndrome - this is the first sign that the baby is special);
• the doctor checks whether the baby's nasal bone is visualized (if it is not there, then most likely the baby is sick).

1. A blood test for Down, which determines:

• the level of human chorionic gonadotropin in the blood of a pregnant woman
• the level of plasma protein A in the blood of the expectant mother
• confirms or refutes the diagnosis made by the uzist during the ultrasound examination

In the II trimester, a woman undergoes the same examinations as in the I, however, at this time, during a blood test of a pregnant woman, they reveal:

• the level of alpha protein in the blood - a special protein produced by the liver of a child in the womb, which enters the mother's blood after it enters the amniotic fluid (if there is too much of it, then the child has a neural tube pathology, if it is too little, then most likely , baby down);
• free estriol and β-hCG (the same indicators that are detected on screening in the first trimester).

Below is a table with indicators of the norm of analysis for Down:

1. If in the transcript of the analysis for Down, a woman has a high level of probability that the child is sick, then she is sent for a consultation with a geneticist so that he can appoint her to undergo an additional analysis, according to which it will already be known exactly what is happening with the child. This examination is called amniocentesis (it is performed no earlier than 18 weeks) - a procedure in which a woman's amniotic sac is pierced to take amniotic fluid for examination. This analysis gives a 100% result. If it turns out to be positive, then the pregnant woman must urgently decide whether she will give birth to a child, or whether she will agree to an abortion, which is a medical indication for such a diagnosis.

Important! A woman who agrees to an amniocentesis should be aware of the risks of this procedure. After it, a miscarriage may occur (this is especially dangerous if the child is actually healthy). During the procedure, the baby may become infected and die in the womb, and the amniotic membranes of the bladder in which your baby lives may rupture prematurely.

We wanted to point out that agreeing to have a baby with Down syndrome is a real test of parenthood. Future mom and dad need to understand that they will need to devote all their time and attention in life to their special baby. If you properly treat a child after birth, do everything possible for his development, then he will be able to fully live, study and work. The only sad factor is that such children do not live long.

1. If the analysis for Down syndrome showed a low probability that the child is sick, then the woman is not prescribed any additional examinations.

Down analysis is done within 14 days. However, it is worth noting that the results of the analysis for Down syndrome still do not give a 100% guarantee that the child is absolutely healthy. The results of Down's tests only show the degree of probability that a child may be born with a genetic disorder.

Should I be tested for Down syndrome during pregnancy?

According to medical statistics, if a child has a genetic disorder, then most often a pregnant woman early dates pregnancy (at 6-8 weeks) spontaneous abortion occurs. This is how natural selection works. Less often, young mothers learn about the pathology after a genetic analysis for Down syndrome. So is it worth it to do such a survey for pregnant women?

• On the one hand, pregnancy is a gift from God, which must be accepted with gratitude, despite the fact that a child may be conceived with a handicap. A mother must love her child while still in the womb, take care of him and protect him, regardless of whether he is healthy or sick.
• On the other hand, every woman understands that a handicapped child born into the world will not be able to live normally and contact other people. He will not have a normal family, he can only have a family with the same sick person. And, most likely, that family will be doomed to childlessness, because the downs are not able to conceive and give birth to a child due to the multitude birth defects internal organs.

For a future mother, a real dilemma is how best to proceed - to take an analysis and know exactly what is happening with the child in order to decide whether he is a tenant or not. Or trust God's will, do not do any additional examinations and give birth to a baby as he is.

Most pregnant women, especially young ones, decide to have an abortion in order to get rid of the "sunny baby" (that's what down babies are called). They do not want to take on such a huge responsibility for the development of a special baby. In addition, they are afraid that their husband will leave them, and the whole burden will fall on their shoulders.

But there are also brave ladies who deserve universal respect and recognition - these are women who are not afraid to give birth to a special baby, and make every effort to make him grow up active, cheerful, happy, surrounded by attention and care. These women of today include:

1. Lolita Milyavskaya is a Russian singer, her daughter Eva is growing up with Down syndrome.
2. Evelina Bledans is an actress of the comedy "Mask Show", who at the age of 43 gave birth to a "sunny boy" Semyon.
3. Irina Khakamada is a talented Russian designer who is raising a daughter with special needs.

Down syndrome is not a death sentence. You can live with him and raise good kind children. If you learn to perceive them as special, and not inferior, then their upbringing will not seem to anyone as something supernatural and difficult. We wish all our readers that nothing overshadows your pregnancy. Stay healthy for you and your kids.

Video: "Down Syndrome"

Every mother wants her child to be healthy and fully developed. The most hectic time for parents is pregnancy, because while waiting for the birth, many questions arise - what will the child be like, what gender, who will he look like. Too suspicious dad and mom may have an obsession to find out everything about the health of the child. Especially often there is a desire to check the baby for the presence of genetic diseases, the question may arise - how to determine Down syndrome during pregnancy. But is it possible and are such attempts harmless? Indeed, in the case of a negative diagnosis, even if it is incorrect, “false positive”, as doctors say, unpleasant thoughts will begin to visit the person before the birth of the child, and after the birth the child will become the object of careful and tedious medical research.

general information

The disease got its name from the British physician John Langdon Down, who in 1886 published the results of his research on the disease. The disease has long been called the Mongoloid syndrome due to the characteristic incision of the eyes, which is called anti-Mongoloid. However, in order not to associate the name of the disease with any people, this genetic defect was named after the doctor who first scientifically described it.

This pathology is rare, with an average of one child per 700 births. It is difficult to judge how many babies with such a defect actually exist, since many of them become victims of abortion. Moreover, often children are killed in the womb under the influence of diagnoses made by doctors, making conclusions on the basis of prenatal screening. Such diagnoses have become the reasons for the change in statistics - one child per 1000 newborns will be born sick, the rest, unfortunately, do not survive to birth due to the fault of doctors.

The reason for such a large number of abortions is an over-reliance on prenatal diagnosis, which is not only often erroneous, but also dangerous to the health of the mother and child due to the invasiveness of taking tests for Down syndrome during pregnancy (for example, piercing the placenta with a needle can lead to miscarriage) . Also, doctors and relatives often put pressure on the mother, who is in a difficult psychological situation during pregnancy, exaggerating regarding the unborn child with possible developmental disabilities. But firstly, a child with Down syndrome is not defective, and secondly, many children are killed quite healthy, unable to resist the abortion industry, which in some countries, such as Ukraine and Russia, is put on the assembly line.

Down syndrome is inherited only if the parents have an extra gene, in most cases the genetic defect is random. Women over 35 years of age are more likely to have a child with the syndrome, although most children with a chromosomal defect are born to young mothers, since the birth rate under the age of 30 is higher than at a later age.

Causes

The cause of the syndrome is the appearance of an extra copy of chromosome 21, and it can be copied completely, then trisomy occurs, or they can be copied separate sections chromosomes, then a translocation variant of the disease occurs. The genetic norm is 46 chromosomes, the syndrome occurs when there are 47 chromosomes.

Trisomy 21 was first explained by the French pediatrician Jerome Lejeune, who defined the disease as a genetic defect. He studied Down syndrome - how to determine how to cure patients with this disease. He also condemned the use of his invention for prenatal research, which was done with the aim of having an abortion. His stance aimed at protecting life from the moment of conception cost the scientist a Nobel Prize (this is unofficial, but subjectivity is also present in the Nobel Committee). Pope John Paul II appointed the scientist, who was able to recognize the patterns of the development of the disease, the first president of the Pontifical Academy of Life.

Jérôme Lejeune's canonization case is now underway in Rome, and his words in defense of life deserve special attention today: “Human genetics can be summed up in this basic creed: In the beginning there is a message, and the message is in life, and the message is life. And if the message is a human message, then life is a human life. It doesn't matter what genetics a person has. The main thing is that this is human life, which must be valued equally, it is necessary to prevent discrimination against people for any signs, including for health reasons.

Lejeune also said: “The enemies of life know that in order to destroy Christian civilization, they first need to destroy the family at its weakest point - the child. And among the weakest, they must choose the most vulnerable - a child whom no one has yet seen, a child who is not yet known and not loved in the usual sense of the word, who has not seen the light of day, who cannot even cry with grief. It is important not only to identify the disease, but also to accept a person into society, the mother needs to avoid abortion despite personal difficulties, medical instructions and pressure from relatives.

Jerome Lejeune

The disease is independent of any external factors, but statistically found the following dependence on the woman's age:

• between 20 and 24 years of age, the statistical probability of having a child with a genetic defect is approximately 1 in 1500 or 0.07 percent, that is, less than one tenth of a percent;
• respectively, from 25 to 35 years - 1 in 1000 or 0.1 percent;
• 35 - 39 years old - approximately 0.5 percent or 1 in 200;
• women over 45 years of age may well give birth to a healthy child, but the risk of the syndrome at this age is significant - about 5 percent of babies are likely to be born with an extra 21 chromosome.

It is possible that with age, the genetic material in men also becomes weaker, but by the way, this very much depends on health and lifestyle. The deterioration of hereditary genetics is highly dependent on the way of life and bad habits, so you need to lead a moral and healthy way of life, and this will positively affect not only the immediate offspring, but also the health of future generations.

In people who already have Down syndrome, the likelihood of having children with genetic abnormalities is quite high, up to 50 percent. Women in the majority can have children, men in the majority are infertile, but not all, there is still a small percentage of those who are fertile, it is difficult to determine such a possibility. Therefore, people who already have a genetic defect do not need to know how to avoid pregnancy, they just need to abstain from sexual intercourse in principle. If pregnancy has occurred, anything can happen, it doesn’t matter if the fetus has Down syndrome or not, the baby’s life must be saved, given the opportunity to be born and help to live a full life. Society should help parents in raising both sick and healthy children in such families.

Features of diagnostics

During pregnancy, Down syndrome is safe and at the same time it is impossible to diagnose with a high probability. Of course, this can be done with a high degree of probability if you pass a lot of tests, but women need to decide whether they really need the result.

Reasons for the futility of prenatal diagnosis:

1. Causes significant harm to physical health - some tests for Down's syndrome during pregnancy are taken using a syringe that is inserted through the mother's stomach, such manipulations can harm the baby (and also harm the baby), and even provoke a miscarriage.
2. Attempts to identify Down syndrome and signs of this disease during pregnancy cause significant psychological harm to the mother in any case - if the child is sick, the mother can be persuaded to have an abortion, resistance to infanticide can lead to conflict situations, and carrying a child knowing that he is sick is a psychological trauma for mother, which she does not need at all. If the child is healthy, and the diagnosis is incorrect, then psychological experiences can harm both him and his mother, and after birth, such a baby falls under unnecessary suspicion, instead of just being a welcome joy, he can be tested for months for a non-existent disease.
3. Detection of Down syndrome during pregnancy - tests, screenings, tests, ultrasound cannot diagnose the disease with 100% probability, and are often erroneous, and therefore useless.

Harmful invasive diagnostic methods

Prenatal screenings for Down syndrome are unnecessary and can be detrimental to the physical and psychological health of the mother and baby. In addition, they cost a lot of money, which can be used to develop a newborn baby or to provide Better conditions for a pregnant mother. Of course, the worst thing is that such studies are not done in order to “just know” and not to treat the baby, as is often presented, but precisely in order to continue such information earnings in the form of termination of pregnancy, or abortion, this for some reason they prefer to avoid the word. In talking about abortion, in order to persuade the mother to kill, doctors often refer to the child with the formless word "fetus". It got to the point that in colloquial speech the murder is called "purge", probably in order to psychologically distance himself from this great sin.

First trimester

In the first trimester, mothers who were offered to do a combined screening for signs of Down syndrome in the fetus take blood tests - measure the level of chronic gonatropin, protein A, use ultrasound to measure the thickness of a special parameter - the collar space of the child. In case of doubt (there are often errors in the tests), the geneticist suggests doing various tests that involve gross mechanical intervention in the woman's body, and this is dangerous for the health of the mother and baby.

Measurement of hCG level

Blood is taken from a vein, in which the level of the beta subunit of the pregnancy hormone chronic human gonadotropin (hCG) is determined. It is assumed that chromosomal abnormalities in a child are possible with an increased level of chronic gonadotropin. But Down syndrome is very strongly tied to this indicator, although other reasons for the increased content of this hormone are possible:

• the gestational age is set incorrectly, respectively incorrectly and the normal concentration of the hormone is calculated;
• complications of pregnancy in the form of gestosis, that is, late toxicosis (every woman can have such a complication and it is not a fact that it will harm);
• the presence of diabetes in the mother;
• various anomalies in fetal development, among which may be Down syndrome (or may not be, mind you);
• pathology in a child (this is one of the possible signs, although the child may actually be healthy);
• taking various drugs, including gestagens of synthetic origin, as well as hCG preparations, they are used to maintain pregnancy in case of threats of miscarriage;
• overwearing (in the first trimester this is hardly relevant).

This analysis is taken several times, since analysis errors are possible, including during blood sampling. Despite the results, it is not necessary to directly link the elevated level of hCG with Down syndrome, this method does not accurately diagnose the disease, but speaks about the possible features of the development of the child and the course of pregnancy.

Protein A level

In the blood, the level of PAPP-A (plasma protein A) is determined, with a low content of this protein, doctors talk about a possible Down syndrome. But the level of this substance can be low for many reasons, including the possibility of analysis error. But mothers who have been diagnosed with low plasma protein A begin to go to the doctors during the day, in the evening they can cry, worrying about the child, this can lead to severe stress and negative consequences for two people connected by the umbilical cord.

Mom is sent for an ultrasound scan, to a geneticist and other specialists who can offer the mother an amniocentesis - amniotic fluid sampling for genetic analysis using a long needle inserted through the abdomen. This procedure is very dangerous, it can harm the baby and provoke a miscarriage. The main problem is that low level PAPP-A is found in many mothers whose baby is born quite healthy. But by the way, such an analysis may not be independent, but only prepare the mother for the second screening, which is carried out in the second trimester - the mother might not have done the second screening if there were no negative results of the first screening. So a negative test result may not necessarily be reliable, but doctors consider it the basis for further research - and this is additional worries, financial costs and danger to the health of the mother and child.

This is the antenatal industry - one doctor gives a negative test, then many other specialists get jobs, although all this could have been avoided if no screenings were done at all. Moreover, even after blood sampling, they often offer to pierce the stomach with a needle for further research, and this already endangers the health and life of the mother and child. It is possible that trisomy 21 is indeed low in plasma protein A, but this genetic disease is generally rare, and poor tests can occur under various circumstances not related to hereditary diseases. But such analyzes lead to a woman's hysterical state, in which she is easily manipulated, parents are ready at this stage to part with a significant amount to continue research, although these studies are generally useless.

Collar space thickness

In the first trimester, the thickness of the collar space in a child is determined. The measurements refer to the distance between the inner surface of the child's skin and the soft tissues that cover the spine in the cervical region. Deviations of this parameter from the norm occur when a child has Down syndrome, however, based on measurements, they speak of a possible “risk group” and not an exact diagnosis. More possible reasons deviations in the dimensions of the collar space:

• Turner, Edwards, Pattau syndromes
• heart defects, problems with lymph circulation, connective tissues, bone structures with a normal chromosome set
• complications that the mother's body experiences during pregnancy - anemia, are also called taxoplasmosis, cytomegalovirus, parvovirus, although the latter viruses are unlikely to affect anything, their presence in the analyzes, in principle, does not say anything
• a completely normal child may also have abnormalities, which should also be taken into account when measuring the thickness of the collar space.

Measurement error is quite possible, since the norm ranges from 0.7 to 3 millimeters, and ultrasound has very strong noise, even modern and expensive devices, so it is very difficult to determine this parameter exactly, since everything is hard to see during ultrasound, as well as the child may take a position in which the collar space cannot be accurately determined - the head may be pressed to the chest, or turned to the side.

A woman whose child has some wrong parameter on ultrasound falls under the scope of doctors - you need to repeat the diagnosis every month. Also, the woman is referred to a geneticist, who begins to persuade the mother to completely harmful procedures that can damage the baby or cause premature birth - among such harmful procedures are amniocentosis, in which water is taken from the fetus, chorion biopsy and placental biopsy, in which placental cells are taken for analysis, cordocentesis - analysis of blood from the umbilical cord and villi of a human embryo. If such studies statistically lead to a miscarriage in one case out of three hundred, then damage to the child with subsequent complications of pregnancy is even more common.

Especially dangerous is the sampling of chorionic villi, which are taken through the cervix. With such a "research" the child may die. With transcervical amnioscopy, which geneticists also offer to do, complications are possible for both the child and the mother - rupture of the fetal membranes with premature rupture of amniotic fluid, bleeding with mechanical damage to the cervical canal.

Even if three parameters are taken into account - the level of hCG, protein A, collar space, then the probability of determining Down syndrome is very low, even according to official data. But in fact, the probability of determining trisomy 21 in these ways is much lower, because no one examines aborted children for the presence of Down syndrome. And a woman who finds herself in a difficult life situation can be easily pushed to rash actions, even such difficult ones as killing a child. But screening in the first trimester is not everything, doctors suggest doing many tests in the second trimester. Many future mothers have to go through all the negativity of medical research, and this is to determine an incurable disease (there is no point in knowing about an incurable disease in utero), the probability of which is 1 in 1000, and this can be avoided with adequate information. It is necessary to take care of the health, well-being and future upbringing of the child, and not succumb to the persistent proposals of financially interested people.

Second trimester

The second screening is given in the second trimester, at 16-18 weeks, it also consists of several procedures - determining the level of hCG, a-fetoprotein, free estriol, inhibin A, ultrasound, as well as genetic studies - transabdominal aspiration and cordocentesis. All these procedures are harmful for both the baby and the pregnant woman.

HCG level

Repeatedly donate blood to the level of hCG - chronic gonadotropin. The results, as in the first trimester, depend not only on chromosomal defects, but also on many other reasons. Doctors use some abnormalities in the level of a substance in the blood to refer a pregnant woman for further research.

A-fetoprotein level

The level of a-fetoprotein (AFP) is determined in the blood. This is a protein compound that is formed in the stomach and liver of a child. This substance affects the immunity of a woman and helps protect the child from rejection by the mother's body. The level of this substance increases in the blood throughout the entire period of pregnancy, reaching a maximum before childbirth. If a-fetoprotein is below normal, in isolated cases this may indicate a risk of genetic failure, but other reasons are also possible:

• pathology of the development of the embryo, the so-called cystic skid;
• fetal death is possible;
• possible miscarriage;
• false pregnancy or incorrect gestational age;
• other reasons - you should not worry too much about the tests, this is only one of the diagnostic methods, even bad tests on paper can be situational and not talk about any problem, and the possibility of an error cannot be ruled out.

In many cases, a low level of this protein may indicate an incorrect gestational age.

Increased AFP may indicate various reasons:

• an analysis error cannot be ruled out, blood sampling is done according to special rules that are easy to break;
• a viral infection in a child that can damage his liver;
• with a rather rare disease - spina bifida, deviations from the norm in the analyzes can also indicate problems in the development of the child's neural tube, which is also rare;
• if two or more children develop in the mother's tummy;
• if a purulent-septic complication develops, which happens if the anterior wall of the abdominal cavity does not grow;
• problems with the urinary tract of the child.

A feature of this analysis is that the level of a-protein can be higher or lower than normal even in healthy babies and in the absence of problems in the mother.

Free estriol

An analysis for free estriol is also done to determine the likelihood of Down syndrome. But, as is the case with other tests, the lack of this female sex hormone can indicate various processes occurring in the mother's body, and may also indicate simply the peculiarities of the course of pregnancy.

Possible problems with low levels of free estriol in the blood serum:

• the threat of premature birth, perhaps with such analyzes it is necessary to remain in a hospital setting;
• overwearing, in our case in the second trimester, this reason is irrelevant, but if the deadlines are late and overwearing really takes place, you need to think about inducing labor if a woman is tormented by constant contractions;
• an infectious process that can take place in the mother's womb;
• aencephaly in a child (complete or partial absence of the cerebral hemispheres);
• fetoplacental insufficiency (a set of symptoms that may be the result of disorders of the placenta, and may also be the result of various obstetric features);
• adrenal hypoplasia in a child.

You should not worry about the tests again - estriol can decrease when taking antibiotics, glucocorticoids, with problems with the liver, even when the baby is large in the tummy, or there are twins, triplets. The analysis must be taken under certain nutritional conditions, and even if all the requirements are met, it is not a fact that the analysis will be accurate.

Inhibin A

In the second trimester, screening involves measuring the level of inhibin A. This is a hormone of protein nature, which is practically absent in the male body; in women, its synthesis occurs in the follicles, during pregnancy, as well as in the tissues of the child and in the placenta. The concentration of the hormone becomes maximum by week 10, then its level decreases, reaching a minimum by week 17, then its amount slightly increases.

The analysis is taken from a vein under special conditions - you can not eat heavy food, as well as physically overstrain. A reduced level of the hormone can show the risk of miscarriage if done in the first trimester, when the concentration of the hormone is quite high, as well as possible cystic mole (diseases of the embryo, when the chorionic villi are reborn into vesicles with liquid, while the epithelium of the villi grows, this disease occurs approximately one case per 1000 births). Also, the analysis can show a predisposition to preeclampsia - this is late toxicosis, which occurs at the end of the second trimester - at the beginning of the third trimester, this toxicosis is accompanied by high blood pressure and edema.

With Down syndrome, Edwards syndrome, as well as other genetic diseases, the level of inhibin A in the blood is higher than normal. But still, with poor analyzes, you should not worry, as it is influenced by various factors that are not related to genetic diseases. Doctors can refer to various invasive studies in which intervention is made in the body of the mother or child, it is better to ignore these recommendations, since they can cause irreparable harm to the health of the mother and child. And the results of the test, even if they are negative, should be the basis for improving the life of the mother - better nutrition, more comfort, more frequent walks, perhaps you need to go to the hospital if there is a threat of miscarriage. Bad tests are a signal to loved ones to take more care of the pregnant mother, and not think about terminating the pregnancy.

ultrasound

In the second trimester, ultrasound is done as planned. The child is quite small, and the ultrasound diagnostic equipment, even new ones, does not give a complete picture of how the child looks in detail. And it's not just the "noise" that reduces the clarity of the image by half. The fact is that each person has many individual characteristics, therefore, to diagnose Down syndrome by appearance a child, and even being in the womb, this is basically wrong. This method of determining a genetic defect or confirming by ultrasound the results of other examinations undertaken as part of screening for Down syndrome has a small degree of certainty, so one should not be too imbued with ultrasound diagnostics.

Ultrasound should be considered first of all as an opportunity to get to know the child better while impatiently waiting for his birth. Some people wonder if it is possible to detect Down's syndrome by ultrasound and for how long it can be done. What arguments do some doctors give in order to determine trisomy using ultrasound:

1. The child is smaller than normal. An error in determining the term is possible, as well as weight, body length - a very individual feature that depends on the child's nutrition, heredity. Determining the health of a child by its intrauterine size is at least not serious. The baby can be less than the norm, more than the norm, and also correspond to the norm. It's not about size, but about the established norm, it shows average figures, without adjustments for individual characteristics. To recognize in this way any disease, not just trisomy, is very difficult.
2. The nasal bone is shortened or absent - this is an inconspicuous detail on ultrasound. The bones of the child are weak, especially on the head. This is the preparation of the body for childbirth. Ossification actively disappears after birth. Such a feature of the structure of the bones of the head definitely cannot be set as significant in the prenatal diagnosis of Down syndrome.
3. The upper jaw is smaller than the norm - such a feature can be genetically incorporated in a completely ordinary child, not to mention the fact that it is wrong to determine the size of the body relative to the norm in the second trimester, because at 16 weeks, the beginning of the second trimester, the child measures about 15 centimeters, weight - about 130 grams.
4. Shortened bones of the shoulders and hips - the baby is in the fetal position, in which it is difficult to measure the size of the bones of the upper and lower extremities, but these features are individual for all people.
5. When diagnosing Down syndrome, they can measure the size of the bladder, which is very small, count the arteries near the umbilical cord, these arteries are hard to see.
6. Low water or no water at all in the mother's tummy. Olivia accompanies 3 percent of pregnancies and has many causes, and Down syndrome - about 0.1 percent. Little water - can pose a threat to the health of the child, and is not a sign of a genetic disease.
7. A baby's heart palpitations can have a variety of causes and are most often not related to trisomy, as claimed by proponents of prenatal screening.

Geneticists, to whom doctors refer in all doubtful cases, may suggest a chorion biopsy (transcervical chorionbiopsy, chorionic analysis), or transabdominal aspiration of the placental villi. This is an extremely harmful procedure that has the following complications:

1. Bloody discharge occurs in a third of women who have undergone this painful procedure, which is useless, yet humiliating. Bleeding in every twentieth woman can turn into a hematoma, which can soon resolve. It is also possible to bleed profusely, dangerous to health.
2. It is possible to get an infection in which chorioamnionitis occurs, inflammation of the amniotic membranes and amniotic fluid. The body of women and the baby in the tummy are pretty well protected from bacteria. But senseless intervention in the abdomen can lead to rupture of the membranes and loss of the child, even if done C-section(the term is very short, it is difficult for such a small child to survive).
3. The development of chorioamnionitis in early pregnancy often leads to rupture of the membranes and premature birth. After childbirth (both by caesarean section and natural), chorioamnionitis can turn into endometritis, that is, inflammation of the inner lining of the uterus. Even if the child was healthy and everything was in order, then problems can begin with just such tests, and this harm could have been avoided by refusing to conduct a biopsy.
4. Violation of the integrity of the membranes.
5. Increasing the level of afetprotein in the blood.
6. The development of alloimmune cytopenia in a child (destruction of blood cells) requires medical intervention after chorionbiopsy.
7. Every thirtieth woman has a miscarriage after a chorion biopsy - this is a lot, they forget to talk about it (often they don’t want to talk about the dangerous statistics of child deaths after this dangerous procedure), suggesting a dangerous invasive intervention in the body of a pregnant mother.

Even if each of the cases the likelihood of complications is negligible (and often the complications are very dangerous), the sum of the risk is very strong, often fatal. Also, a woman is waiting for a large number of side effects. Danger awaits a woman who agrees to do another procedure as part of the screening - transabdominal cordocentesis with puncture of the umbilical cord vessels, this procedure can also seriously harm. Those who are flippant about such studies, calling them "Down analysis in pregnancy", "Down analysis in pregnancy" may not take into account all the risks, and make erroneous actions that can lead to serious problems. You just need to consider that you can determine Down syndrome with absolute certainty only after the birth of a child.

The happiness of a woman in motherhood. There are no special and non-special children, all children are different, different from others and are the most expensive for mom. The child must be accepted as he is - very talented or with genetic differences (people with Down syndrome can also be very talented). The kid is a part of mom and dad, to destroy life is to destroy both yourself and society. After all, a child is the weakest creature that cannot protect itself. How can you severely punish criminals who commit atrocities against people who can stand up for themselves, and at the same time remain silent about the murder of children in the wombs of mothers who are so defenseless that they cannot even cry. Give life and love to a child and do not doubt his eternal love for you. There is no need to do any tests, screenings, analyzes, the purpose of which is an abortion, such studies are dangerous in themselves and can have negative consequences for many years. Moreover, the risk of having a child with Down syndrome is very small.

Down syndrome was first described by the famous British physician John Langdon Down, who began his research work in 1882, and in 1886 publicly published its results.

This is one of those pathologies that every person has an idea about. This disease is of particular concern to expectant mothers, who are anxiously waiting for the first screening. According to recent decades, this pathology occurs in every 700 born babies.

The statistics of the last few years show a different figure - 1 child born with a pathology per 1100 newborns, which became possible due to high-precision prenatal diagnosis and early termination of such a pregnancy.

About 80% of children with this pathology are born to women younger than 35 years old - despite the relatively low risk of developing this chromosomal pathology in the fetus, a peak in fertility is observed in this age group. About 5,000 newborn babies with Down syndrome are added every year around the world.

Down syndrome affects both girls and boys equally, the disease has no ethnic distribution and is found everywhere.

In 2006, March 21st was the International Day of People with Down Syndrome. This day is held in order to raise public awareness of this common pathology and improve the quality of life of sick people. The number 21 was chosen due to the cause of the disease - trisomy on chromosome 21, and the month of March represents trisomy, since it is the third month of the year.

Causes of the development of Down syndrome

The causes of Down syndrome lie in the intrauterine formation of fetal chromosomal pathology, characterized by the formation of additional copies of the genetic material of the 21st chromosome, or the entire chromosome (trisomy), or parts of the chromosome (for example, due to translocation). Normal karyotype healthy person consists of 46 chromosomes, and in Down syndrome, the karyotype is formed by 47 chromosomes.

The causes of Down syndrome are in no way related to environmental conditions, parental behavior, taking any drugs, and other negative phenomena. These are random chromosomal events that, unfortunately, cannot be prevented or changed in the future.

Risk Factors for Down Syndrome

The age of the expectant mother affects the risk of developing Down syndrome in a child:

• in the age range from 20 to 24 years, the probability of the formation of this pathology is 1 in 1562;
• at the age of 25-35, this risk is already 1 in 1000;
• at the age of 35-39 years, the risk increases to 1 in 214;
• over the age of 45, the risk increases to 1 in 19.

As for the age of the future dad, the risk of having children with this syndrome in men over 42 has been scientifically proven.

There is a computer program "PRISCA", which takes into account the data of ultrasound, physical gynecological examinations and other factors and calculates the risk of congenital pathology of the fetus. To calculate the risk of Down syndrome, the risk of malformations central nervous system(neural tube defect) is taken into account:

• Mother's age
• Smoking
• Gestational age
• Ethnicity
• Body weight
• Number of fruits
• The disease of diabetes
• Availability of IVF

Is it possible to inherit Down syndrome?

Trisomy on chromosome 21 (and this is approximately 90% of cases of the disease) is not inherited and is not hereditarily transmitted; the same applies to the mosaic form of pathology. The translocation form of the disease can be hereditary if either of the parents had a balanced chromosomal rearrangement (this means that part of the chromosome changes places with part of some other chromosome without leading to pathological processes). When such a chromosome is passed on to the next generation, an excess of genes on chromosome 21 occurs, leading to a disease.

It is worth noting that children born to mothers suffering from Down syndrome are born with the same syndrome in 30-50% of cases.

How to find out about Down syndrome during pregnancy?

Since the causes of Down syndrome in the fetus are genetically determined, this pathology of the child can be recognized even in the womb. If Down syndrome is suspected, signs during pregnancy are determined already in the first trimester.

Diagnosis of Down syndrome determines the risk of developing this pathology in the fetus. The study is carried out strictly in the period from 11 to 13 weeks and 6 days of pregnancy.

• Determination of the level of the β-subunit of chorionic gonadotropin (hCG pregnancy hormone) in the mother's venous blood. With this chromosomal pathology of the fetus, an increased level of the β-subunit of hCG will be determined by more than 2 MoM;
• Determination of the level of PAPP-A - protein-A in the blood plasma of a pregnant woman associated with pregnancy. A high risk of the syndrome is associated with a PAPP-A index of less than 0.5 MoM;
• Determination of the thickness of the collar space using ultrasound of the fetus. With Down syndrome, this figure exceeds 3 mm.

With a combination of the three indicators described, the probability of Dine's syndrome in the fetus is 86%, i.e. diagnostics is quite accurate and demonstrative. To make a decision on whether to continue the pregnancy or terminate it, a woman who has signs of Down syndrome in the fetus is invited to perform a transcervical amnioscopy.

In this study, chorionic villi are taken through the cervix, which are sent for a genetic study, according to the results of which, with one hundred percent certainty, this diagnosis can be confirmed or refuted. The study does not belong to the mandatory group, the decision to conduct it is made by the parents. Since it is associated with a certain risk for the further course of pregnancy, many refuse such a diagnosis.

Diagnosis of Down syndrome in the second trimester is also a combined screening, which is carried out between 16 and 18 weeks.

• Determination of the level of hCG in the blood of a pregnant woman - with Down syndrome, the indicator is above 2 MoM;
• Determination of the level of a-fetoprotein in the blood of a pregnant woman (AFP) - with Down syndrome, the indicator is less than 0.5 MoM;
• Determination of free estriol in the blood - an indicator of less than 0.5 MoM is characteristic of Down syndrome;
• Determination of inhibin A in the blood of a woman - an indicator of more than 2 MoM is characteristic of Down syndrome;
• Fetal ultrasound. If you have Down syndrome, the ultrasound signs will be as follows:
  • smaller fetus sizes relative to the norm for a period of 16-18 weeks;
  • shortening or absence of the nasal bone in the fetus;
  • reduction in the size of the upper jaw;
  • shortening of the shoulder and femur bones in the fetus;
  • an increase in the size of the bladder;
  • one artery in the umbilical cord instead of two;
  • oligohydramnios or lack of amniotic fluid;
  • fetal heart rate.

With a combination of all the signs, a woman is offered an invasive diagnosis for a genetic study:

• transabdominal aspiration of placental villi;
• transabdominal cordocentesis with puncture of the umbilical cord vessels.

The selected material is examined in a genetic laboratory and allows you to accurately determine the presence or absence of this pathology in the fetus.

In 2012, British scientists developed a new high-precision test for the presence of Down syndrome in the fetus, the result of which is estimated at 99%. It consists in the study of the blood of pregnant women and is suitable for absolutely all women. However, it has not yet been introduced into world practice.

How is the issue of termination of pregnancy resolved when determining the high risk of Down syndrome in the fetus?

When children are born with Down syndrome, the causes of the resulting genetic failure are really impossible to establish. Many parents perceive this as a test, and consider themselves endowed with a special function of raising and developing such a child. But before every pregnant woman with a high risk of this pathology, the question arises of deciding the fate of her pregnancy. The doctor does not have the right to insist on interruption, but he is obliged to clarify this issue and warn about all the likely consequences. Even if pathologies that are incompatible with life are found, no one has the right to persuade a woman to decide to do it), and even more so to force her to do it.

Thus, the fate of pregnancy with fetal pathology is decided only by the parents. Parents have the right to repeat the diagnosis in another laboratory and clinic, consult with several geneticists and other specialists.

Signs of Down syndrome in a newborn

Signs of Down syndrome in newborns are determined immediately after birth:

When children are born with Down syndrome, the external signs listed above will be determined by almost everything. The diagnosis is confirmed after the delivery of a genetic analysis for the karyotype.

Can a child with Down syndrome grow up to be mentally and physically fit?

This question necessarily arises for those parents who are still deciding whether to terminate or keep the pregnancy, and for those who already carry a precious bag with a newborn baby in their arms.

The consequences of forming an extra copy of a chromosome vary greatly and depend on the amount of excess genetic material, on the genetic environment, and sometimes on pure chance. Of great importance is the individual program for the development of such a child and, of course, comorbidities, of which there are many in such children.

Of course, these are not severely disabled, but children who are able to learn, develop and become adapted personalities in the modern social environment. At the same time, it is important to understand that every child with Down syndrome will have a different degree of lag in mental, speech, and physical development. Putting them on the same line with healthy children is incorrect, and it is not necessary, but it is also impossible to consider them “abnormal people”.

A special phenotype makes this pathology recognizable. Indeed, to hide from prying eyes such a feature of your child will not work. But it is better to accept your baby as he is from the first breath, be proud of him and not hide from people. Yes, these children are special, but far from hopeless. Mothers of children suffering from much more serious pathologies would give everything for the opportunity to change places with the mothers of downy, if only the child could live and smile.