An analysis for Down syndrome during pregnancy is mandatory in most cases. It helps to identify the disease so that future parents can make a decision on keeping the baby in time. What kind of disease it is, what methods of its definition exist and how they are carried out, you can learn about this and much more from this article.

Down syndrome

Down syndrome is a chromosomal abnormality characterized by the presence of an additional 47 chromosome.

Children with Down syndrome differ in appearance. They have a puffy face, an upturned nose, their mouths are constantly open due to a large tongue that does not fit in it.

They lag behind in physical and mental development from their peers.

There are no drugs for the "extra" chromosome. This problem can affect any married couple, regardless of social status, age and standard of living.

Factors affecting the development of a chromosomal abnormality:

  • the age of future parents is approaching;
  • there is a family connection between mom and dad;
  • one of the parents had similar diseases in the family;
  • improper lifestyle, especially the use of narcotic drugs;
  • lack of vitamins.

Pathological factors are indicative, and become the reason for a pregnant woman to get into a group of increased risk of the disease.

At the moment, the reason leading to the presence of an extra chromosome has not been established.

Until recently, it was not possible to identify pathology in pregnant women. But due to the rapid development of high-tech methods in the field of medicine, an analysis was developed. -, allowing you to identify a failure in the set of chromosomes.

The disease is dealt with by genetics and cytogenetics.

When is the test done?

An analysis for the detection of chromosomal abnormalities is carried out at the end of the third trimester.

From 11 to 13 weeks of gestation, a pregnant woman needs to donate blood for three types of hormones and undergo an ultrasound examination.

The combination of the two tests allows you to expand the picture of the pathology and take appropriate measures.

It is important to note that the first trimester is a "natural" selection for the fetus, therefore, if severe fetal malformations are detected, termination of pregnancy is suggested.

Doubtful results are confirmed by non-invasive diagnostic methods that confirm or deny the diagnosis with an accuracy of 98%.

Pregnant women make their own decisions, after consulting a geneticist and comparing the risks of pathology.

Children with Down syndrome need specialized care and treatment. Sometimes the underlying pathology is combined with defects of the heart muscle, respiratory and nervous systems.

Analysis composition

As mentioned above, a triple screening test is performed to establish a diagnosis, which includes:

  1. Ultrasound examination of the fetus.
  2. Blood tests, namely hormones.

In case of doubtful results, or is carried out.

The first two indicators are mandatory types of research. For this reason, gynecologists strongly recommend getting pregnant before 12 weeks of gestation.

The main screening is carried out no later than 13 weeks. If necessary, non-invasive manipulations - no later than 20 weeks, ideally from 16 to 18 weeks.

Ultrasound

Ultrasound diagnostics is one of the proven and "old" methods of detecting fetal abnormalities. carried out in conjunction with biochemical indicators.

In the future, the data are entered into a special program, where a blood test is carried out and the risk or percentage of a pathological phenomenon is established.

The method is informative, but it can be unreliable (approximately 20% of false positive results).

During an ultrasound study, the following indicators are determined:

  • The size of the fetus. With a chromosomal abnormality, the size of the fetus is significantly below the permissible norm.
  • Rapid heartbeat, sometimes the cardiac system has serious malformations.
  • Violation of the bony base of the nose and an enlarged collar zone. These two indicators are fundamental, since all "sunny children" have an expanded collar zone with signs of puffiness, and no or too small nose.

With ultrasound, fetal hypotonia is noted, the presence of pathology of the renal system is possible. Often there is echogenicity in the intestinal rudiments.

In difficult situations, the fetus may not be viable and die in the first trimester.

Blood biochemistry

Blood is collected for 3 types of hormones:, AFP and:

  • free b-hCG is a hormone produced by chorion. It grows rapidly in the presence of chromosomal pathology, however, the concentration of the hormone is not separately taken into account, but is compared with other indicators.
  • AFP is a specific protein that decreases in Down syndrome. Alpha-fetoprotein is synthesized in the liver and is a fundamental test for fetal abnormalities.
  • free estriol is the third screening test, which is reduced to extremely low results. Estriol can fall sharply, in which case it is not so much about a possible genetic pathology, but rather about fetal abnormalities incompatible with life.
  • as an additional test, the control of PAPP-P, a protein produced by the placenta, is carried out.

Blood must be donated in the morning on an empty stomach, an ultrasound scan is performed either on the day of donating blood, or the next morning.

To obtain reliable results, one should not neglect the simple rules of venous blood sampling.

Non-invasive analysis of fetal chromosomes

Non-invasive testing is a second and third trimester screening.

It is carried out as necessary, or if there is a poor prognosis after the first screening test.

Invasive analysis of fetal chromosomes

High-tech methods make it possible to establish a diagnosis with almost one hundred percent probability.

Minimally invasive diagnostic methods include:

  1. Amniocentesis. It is carried out for mothers at risk of having a child with genetic abnormalities, as well as when the results of the first screening are disappointing. Amniocentesis is a study of amniotic fluid to establish the level of ACE. The procedure is carried out in a hospital setting. Under the control of an ultrasound sensor: a needle is inserted into the front wall of the abdomen and amniotic fluid is taken in a volume of no more than 15 ml. A laboratory test establishes the concentration of AFP. Its decrease confirms the preliminary diagnosis.
  2. Cordocentesis - taking fetal blood from the umbilical cord. Cordocentesis is a 100 result of intrauterine examination. During the procedure, the resulting blood is subjected to a thorough analysis, which reveals not only a chromosomal mutation, but also a number of other diseases. The procedure is quite expensive and is accompanied by the risk of placental abruption and spontaneous miscarriage.
  3. An equally accurate result is obtained with a biopsy of the chorionic villi. The material for the study is the chorionic villi obtained by introducing special mirrors into the vaginal cavity.

The study of the material is carried out by a cytogenetic physician. In most cases, the methods are microscopic in nature.

Results and risk groups

The data obtained is loaded into a special computer program that compares the results with normal values ​​and displays the probability as a percentage.

Fetal pathologies can be low, threshold, or high.

For example, the result is the following: 1: 100, 1: 150, 1: 200. The data is threshold: one in 100, 200 or 150 will be diagnosed with a chromosomal abnormality.

A low ratio is 1: 350 and above. With an increased risk of Down syndrome, a geneticist is consulted.

The possibility of additional examinations is being established. The issue of termination of pregnancy is being resolved.

Be that as it may, the responsibility for subsequent actions falls on the mother's shoulders.

The risk group is represented by pregnant women in whom:

  • complicated gynecological history;
  • there are similar cases of pathology in the family;
  • the age of the mother is over 35 years old, and the age of the father is 40 and over;
  • addictions;
  • addiction.

Pathology can be diagnosed in any baby, even born to a famous or wealthy couple.

The likelihood of having a baby with Down syndrome is zero with normal blood counts and fetal ultrasound.

Positive prognosis

A positive result means that a child with genetic abnormalities is developing in the mother's womb. The data must be confirmed by necessarily invasive diagnostic methods.

Parents-to-be should be ready for the birth and upbringing of a "sunny baby". It will not be superfluous for mom to consult a psychologist.

Children with Down syndrome have physical and mental health problems. Initially, the prognosis for all babies is the same.

Development, training and adaptation to a normal life depends on the level of treatment and adaptation with the help of parents and surrounding close people.

Useful video: diagnosis of Down syndrome during pregnancy

Read in this article

How to determine during pregnancy that a child has a disease such as Down's Syndrome? Many will say that this is impossible, nothing can portend such a disaster. I can assure you that it is possible to determine a disease of this kind, and modern equipment and medicine in general can cope with this. If there is a suspicion of a child's illness in the womb, then this can be determined already at the 10-14th week of pregnancy. But there cannot be an accurate test result for Down Syndrome, since you need to carry out a full range of tests and special screening tests to establish a diagnosis, so future parents should not worry and panic in advance.

What is Down Syndrome?

In short - a mutation of chromosome 21, it represents 3 copies, unlike the rest. Look at the graph shown in the figure below.

Chromosomes in Down Syndrome, the most common disease caused by aneuploidy. Notice the three copies of chromosome 21 on the last line.

Down syndrome is one of the genetic diseases, which means that Down syndrome is a chronic pathology. The possibility of conceiving a child with pathology in our time is very high (1 child with Down Syndrome per 700-800 healthy babies). Whether the child is sick or not directly depends on the parents. Scientists have found such a pattern, if the mother of the child is more than 40 years old, then the chance to give birth to a child with the disease is greater. This also applies to the father of the fetus, if the man is over 42 years old, then the chance of conceiving an already sick child increases. The incidence does not differ by sex, the symptoms are the same for both boys and girls. There is a very high risk of conceiving a “special” child if there is a closely related relationship between the parents (that is, on some line they are relatives, even if they are distant).

Expert opinion

Doctors and specialists in this field know how, using a variety of tests, to determine a particular disease in a child during pregnancy. Down's Syndrome is one of these diseases. Tests are done for many reasons. More than 90% of pregnant women terminate their pregnancies after they find out that the fetus has a chronic disease. More than 92% of couples abandon a child with this syndrome at birth. More than 30% of pregnancies are difficult and end in miscarriages.

In our modern world, in the world of technology, there are many medical devices that can easily determine chronic diseases in a child who is born. There are various ways to identify a sick child, someone immediately runs to the doctor to be examined, someone goes to fortune-tellers, grandmas and magicians, and someone trusts their heart and does not worry about it. The most reliable and correct method is medical diagnostics. The more difficult the diagnosis, the more reliable the answer to the question "does the child have Down syndrome?"

What to do, I'm pregnant!

After a woman finds out that she will be a mother, she must register with a doctor. After the expiration of a certain period, diagnostic measures are planned. At the request of the girl, the list of these activities may include a diagnosis to determine genetic, chronic diseases, including Down's Syndrome.

Future parents are often worried about the questions: "Is their future baby healthy?", "Does he have any diseases?", "Will he be a healthy person?" Many are afraid of these questions and do not go to doctors. But at the time of the birth of the child, they are afraid and act with the child extremely ungodly. After the examination, the expectant mother should contact a gynecologist, register and be prepared for many difficulties that lie ahead of her on the way to her happiness.

Diagnosis of fetal disease during pregnancy

Amniocentesis - the first method

How can you tell if your baby is sick? The first diagnosis that I want to tell you about is Amniocentesis... Diagnostics involves a puncture of the abdomen of a pregnant woman. This is a bit of a painful event. The puncture is made with a thin needle through which amniotic fluid is drawn. Based on studies of this fluid, doctors can conclude whether the child has a pathology or not.

Amniocentesis - Diagnosis of Down Syndrome

Biopsy is the best way

The next way to find out if your baby is born sick or healthy is with a Chorionic Villus Biopsy. A biopsy gives a more reliable result of pathology, Down Syndrome. The procedure is performed using an ultrasound machine. An ultrasound machine is inserted into the vagina of a pregnant woman and a thin flagellum of chorionic villi is removed. The walls of the placenta contain accurate data on the structure of the fetal chromosomes. It will also allow you to determine the number of chromosomes, the sex of the child.

Chorionic villus sampling is the most reliable way to find out the diagnosis during pregnancy during the course of pregnancy. The biopsy is 75% accurate that your child has a genetic disorder, Down Syndrome. This painless procedure will help parents to be convinced of the pathology or its absence in the child. This is a fairly popular test among young, expectant mothers and fathers.

Uzi - an easy way

On ultrasound, you can more or less accurately determine the chromosomal disease in a child, in a pregnant woman at the 14th week. The main signs of Down Syndrome in a child are:

  • small size of the fetus in comparison with the existing norms
  • impaired skeletal formation
  • presence of a heart defect
  • rapid fetal heartbeat
  • cervical folds (signaling the accumulation of subcutaneous fluid)
  • other factors in which a genetic disorder can be identified

Ultrasound is an ultrasound examination


Ultrasound can determine the pathology of the incidence of a child in 60% of situations. Ultrasound does not give an accurate result of the child's morbidity. 40% of women can make many mistakes by believing this test. Ultrasound is the most popular measure for certifying diseases in a child, as it is a simple and frequent exercise for doctors.

Screening tests

Another way to identify pathology in a child is screening tests. This is a simple test that helps to identify with a high probability of a disease in a person, with the help of them you can find out whether the baby will be healthy. This simple and painless diagnostic tool, consists of a complex: ultrasound + biochemical blood test, is divided and performed for 3 trimesters of pregnancy. 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. Diagnostics alpha-fetoprotein carried out respectively at 10-13 weeks and 16-18 weeks. This method of determining a chronic fetal disease is not reliable, it does not guarantee 100% reliability.

These tests will not help diagnose fetal disease, but only identify the risk of the disease. If there are abnormal results of this test, it does not mean that your child will have Down Syndrome. The test may show abnormalities.

Screening tests give 65% confidence that a child has pathological diseases; now they are not a popular diagnosis among expectant mothers.

In the modern world, tests can be performed early, starting from the 14th week of pregnancy. Down syndrome can be determined using an electronic test. It is not the most reliable source of chronic diseases, but it can reveal an abnormality in the development of the fetus during pregnancy. Test strips, cassettes (tablet) - they work simply and painlessly. If the strip is pale, then this means some difficulty in the course of pregnancy.

The result, which is determined as a result of the diagnosis, is not always correct. It will be possible to find out reliably only after the birth of a child or after completing additional procedures with a doctor. When a child is not yet born, it is possible to determine whether there are deviations or not, but this is not accurate.

Down syndrome is not a sentence

Can the pathology of a chronic disease be prevented? Measures that are of a preventive nature during the period of gestation help to avoid many pathological diseases. But unfortunately, there is no specific course for avoiding chronic diseases in a child at the genetic level.

Note that despite the fact that there is no specific list of these measures, doctors give recommendations. Recommendations are as follows: conceiving a baby should be planned; the first pregnancy should preferably be 28 years old (since women over 40 have a high rate of conceiving a child with Down Syndrome); interrelationships lead to frequent cases of the birth of children with Down Syndrome, such relationships should be excluded (even if it is distant people).

Parents who learn about chronic fetal diseases panic. Down syndrome is not a sentence for parents. People with this syndrome can do the same things that people do without such a diagnosis.


Down syndrome is a genetic disorder in which a mutation results in an extra chromosome in the 21st pair. Another name for this pathology is trisomy on chromosome 21. Screening of the first and second trimesters allows you to identify this pathology in time and recognize the disease even at the stage of intrauterine development of the fetus.

General information about the disease

Down syndrome is recognized as one of the most common genetic pathologies. The disease occurs all over the world and does not depend on the ethnicity of the person. On average, the disease is found in 1 in 700 newborns. Currently, thanks to advanced prenatal diagnostics, the incidence of pathology has decreased to 1 in 1100 of all children born.

Down syndrome is a pathology in the number of chromosomes. With this disease, an extra (third) chromosome is formed in the 21st pair of chromosomes. Normally, each pair contains only two chromosomes.

Trisomy occurs when there is a violation of the division of germ cells. The result is a defective gamete containing 24 chromosomes. Normally, each gamete (sex cell) contains 23 chromosomes. When two gametes (male and female) merge after fertilization, a zygote is formed, containing 47 chromosomes (instead of 46 chromosomes in the norm).

It is known that in most cases, pathology develops due to a defect in the female gamete (90%). Only in 10% of cases the problem occurs in the male reproductive cell.

Down syndrome risk factors:

  • the mother's age is over 35;
  • father's age is over 45;
  • marriage between close relatives;
  • carriage of translocation of the 21st chromosome.

The age of the mother is the main significant factor in the development of Down syndrome. It has been proven that between the ages of 20 and 25, the risk of having a child with a genetic pathology is 1: 1500. From 25 to 30 years old, this probability increases to 1: 1000, from 30 to 35 years old - 1: 200. After 35 years of age, the risk of having a baby with Down's disease is 1:20.

The likelihood of Down syndrome is not influenced by factors such as infectious diseases or living in an environmentally unfriendly area. Trisomy 21 is an accidental genetic breakdown. It is not possible to predict in advance in which case the maturation of a defective germ cell will occur.

Signs of Down syndrome during pregnancy

The genetic abnormality of the fetus does not affect the woman's condition in any way. This pathology does not affect the course of pregnancy and does not lead to the development of any complications when carrying a child. It is possible to detect trisomy on chromosome 21 only with special studies: hormonal screening and ultrasound.

Down syndrome can cause abortion. The exact mechanism of this condition is not known. It is assumed that in this way natural selection is turned on, and the mother's body naturally gets rid of the sick fetus. Spontaneous miscarriage most often occurs before 12 weeks.

To identify Down syndrome during pregnancy, invasive and non-invasive research methods are used. Non-invasive methods include ultrasound and hormonal (biochemical) screening. Invasive methods (cordocentesis and amniocentesis) are used only if there are abnormalities in the primary screenings.

Non-invasive diagnostics

To detect Down syndrome in early pregnancy, the following are used:

Hormone Screening

The first hormone screening is done at 10-14 weeks. During this period, two important hormones are determined:

  • free b-hCG (human chorionic gonadotropin);
  • PAPP-A (pregnancy-associated protein).

This study is called a "double test". Blood is taken from a vein to detect pathology. No special preparation is required for the procedure.

A simultaneous increase in hCG and a decrease in the PAPP-A protein is of diagnostic value. This combination indicates a high risk of having a baby with Down syndrome.

Note:

  • a high level of hCG also occurs with multiple pregnancies or an incorrectly established gestational age;
  • an isolated decrease in PAPP-A may indicate the threat of termination of pregnancy.

The second hormone screening is done at 16-19 weeks. Three hormones are defined here:

  • AFP (alpha-fetoprotein);
  • free estriol.

Blood for research is also taken from a peripheral vein. Another name for this analysis is the "triple test" or "maternal triad". The high risk of trisomy on chromosome 21 is indicated by a simultaneous increase in the level of hCG and a decrease in AFP and free estriol.

Notes:

  • with an isolated increase in hCG, the gestational age should be recalculated or the test should be retaken;
  • a decrease in AFP also occurs in Edwards syndrome (trisomy on chromosome 18).

Currently, many laboratories use the modern PRISCA software. This test is based on blood test data (first or second hormone screening), as well as ultrasound results in the first trimester. The calculation of risks is carried out individually for each woman. When interpreting the results, the age of the expectant mother, the presence of bad habits, weight and other important parameters are taken into account. The reliability of the PRISCA system is significantly higher than the isolated determination of hormones in the mother's blood.

Hormone screening is performed for all women registered for pregnancy. Patients from the risk group deserve special attention:

  • the woman's age is over 35;
  • the birth of a child with a genetic abnormality;
  • cases of Down syndrome in the family;
  • radiation exposure or other similar exposure to one of the spouses before conceiving a child.

Ultrasound Screening

An ultrasound scan for a period of 12-14 weeks allows to identify Down syndrome. The examination is carried out for all women according to the pregnancy management plan. At other times, ultrasound will not be informative.

Ultrasound signs of Down syndrome:

  • the width of the collar space is more than 3 mm (due to the accumulation of fluid between the neck bones and the skin);
  • underdevelopment of the bones of the nose;
  • shortening of the humerus and femur bones;
  • shortening of the pelvic bones and an increase in the angle between them;
  • reduction of the coccygeal-parietal size (less than 45 mm).

The first two signs are mandatory and clearly indicate Down syndrome. The examination also often reveals malformations of the heart, bladder, cysts of the vascular plexus of the brain. Many children have one missing umbilical artery.

Invasive diagnostics

If changes are detected during an ultrasound scan or according to the results of hormonal screening, the doctor may recommend an additional examination:

Amniocentesis

Amniocentesis is the collection of amniotic fluid for examination. The procedure is carried out for a period of 16-20 weeks. Before manipulation, a control ultrasound is necessarily done to determine the amount of amniotic fluid, the location of the fetus and placenta, and also to clarify the duration of pregnancy.

Amniocentesis does not require anesthesia. Under ultrasound control, a puncture site is selected and a puncture is made. Using a special syringe, 15 ml of amniotic fluid is drawn. The resulting material is sent to the laboratory for research. After the procedure, the condition of the woman and the fetus is assessed. According to indications, tocolytics are prescribed, conserving therapy is carried out.

In the collected amniotic fluid, the laboratory doctor determines the cells of the fetus and counts the number of chromosomes. The identification of an extra 21 chromosome speaks of Down's syndrome. The reliability of the result is 99%.

Cordocentesis

Cordocentesis is the collection of cord blood. The procedure is carried out for a period of 18-21 weeks. A thin needle is inserted into the uterine cavity. Under the control of ultrasound, the needle is brought to the vessels of the umbilical cord, after which blood is taken for examination. The presence of three 21 chromosomes indicates Down syndrome. The reliability of the study is 98-99%.

Amniocentesis and cordocentesis are not safe procedures. Manipulations are carried out only according to strict indications, when otherwise it is impossible to identify pathology in the fetus. Against the background of the procedures performed, the following complications may develop:

  • termination of pregnancy (risk 1-2%);
  • infection of the fetus;
  • bleeding from the puncture site.

All these complications are corrected taking into account the gestational age. After the procedure, the woman should be under the supervision of a doctor for some time.

Signs of Down syndrome after birth

If a woman refuses to undergo ultrasound, hormonal screening or invasive procedures, Down's syndrome can only be detected after the baby is born. The following external signs speak for pathology:

  • low height and weight of the child;
  • flat face;
  • brachycephaly (shortening of the size of the skull);
  • short neck;
  • Mongoloid eye section;
  • pathological joint mobility;
  • decreased muscle tone;
  • shortening of the limbs;
  • flat nape;
  • shortening of the nasal bone;
  • open mouth;
  • large tongue that does not fit in the mouth;
  • strabismus.

Down syndrome is often combined with other pathologies:

  • decreased immunity (almost 100%);
  • congenital heart defects (40%);
  • pathology of the organ of vision (65%);
  • diseases of the digestive tract (10%);
  • episyndrome (8%).

Tactics for detecting Down syndrome

Down syndrome is an indication for termination of pregnancy. An induced abortion is done for up to 12 weeks after a preliminary examination. For a period from 12 to 22 weeks, an abortion is carried out only by the decision of a special commission.

If a woman decides to keep the pregnancy, she should be observed by a gynecologist and undergo all examinations in due time. Childbirth in such a situation can go through the natural birth canal. After birth, the child comes under the supervision of pediatric doctors (neurologist, ophthalmologist, geneticist and other specialists).


Photo: Erin Ryan, Public Domain



Every child, regardless of the problems that may arise, should be loved and desired by their parents. In this article, I would like to talk about how the pregnancy with a child with Down syndrome proceeds and what difficulties may arise in this case.

A few words about the disease

This disease got its name in honor of the doctor who researched it - John Langdon Down. The physician began his work back in 1882, and published the results after 4 years. What about the disease itself? So, this is a pathology that has a chromosomal nature: a failure occurs in the process of cell division. Scientists have shown that babies born with Down syndrome have an additional, 47th chromosome (in healthy people, each cell has 46 chromosomes that carry important genetic information). To put it simply, people with this diagnosis are considered mentally retarded (although they should not be called that according to

Facts

Basic facts about this disease:

  1. during pregnancy, it affects boys and girls equally.
  2. Statistics: 1 baby with this syndrome is born for 1,100 healthy babies.
  3. March 21 is a day of solidarity with people with Down syndrome. It is interesting that the date was not chosen by chance. After all, the cause of the disease is trisomy on chromosome 21 (number 21, the ordinal number of the month - 3).
  4. People with this diagnosis can live up to 60 years. And thanks to modern developments, they are able to lead a completely normal full-fledged life (they can read, write, participate in public life).
  5. The disease has no boundaries or risk groups. Such a child can be born to a woman regardless of education level, social status, skin color or health condition.

Causes

Consider further the topic: "Down syndrome: signs during pregnancy." What causes can contribute to the onset of this disease? So, as already mentioned above, it is responsible for all the extra 47th chromosome. All processes that lead to the onset of the syndrome occur at the time of intrauterine formation of the fetus, during the period of cell division. Modern experts say that these are random ones that are completely independent of external factors.

Risk groups and statistics

The risk of Down syndrome during pregnancy varies for different groups of women:

  1. 20-25 years old. The risk of this symptom in a child is 1/1562.
  2. 25-35 years old. The risk increases: 1/1000.
  3. 35-39: 1/214.
  4. Over 45 years old. The risk is greatest. In this case, for 19 babies, one baby is born with Down syndrome.

As for the dads, then the conclusions of the doctors are not so clear-cut. However, most experts say that fathers who are over 42 years old have a great opportunity to conceive a "sunny child".

Tests

Modern scientists have invented special tests, thanks to which it is possible to exclude the risk of Down syndrome during pregnancy. In this case, the woman will need to answer the following critical questions:

  1. Age.
  2. Ethnicity.
  3. Bad habits (smoking).
  4. Body weight.
  5. The presence of diabetes mellitus.
  6. Number of pregnancies.
  7. Conception: whether the IVF procedure was used.

However, it is still worth saying that thanks to the test program alone, it is impossible to completely eliminate the risk of a baby getting sick with this syndrome. To do this, you need to use additional funds.

How to find out?

We continue the conversation on the topic: "Down syndrome: signs during pregnancy." As mentioned above, this pathology is of a genetic nature. Therefore, you can find out about it even at a time when the baby is in the process. What research will be relevant in this case?

  1. Ultrasound. For the first time, it should be carried out in the period from 11 to 13 weeks. In this case, the baby's collar space will be examined, which will make it possible to say whether the child has this pathology (an extra fold may be visible on an ultrasound examination, or the permissible thickness of the collar zone will be more than 3 mm)
  2. Mother's blood test. To do this, you will need to pass. If the fetus has a pathology, the mother will have an increased level of the β-subunit of hCG (it will be more than 2 MoM).
  3. Plasma analysis. The risk of having a syndrome in an unborn child may be if the PAPP-A indicator is less than 0.5 MoM.

It should be said that this study is called "combined screening analysis" (or the first screening test). Only in the complex can you get results that will be 86% correct.

Additional research

So, Down syndrome, signs during pregnancy. Ultrasound - as a research method - will simply not be enough to make an accurate diagnosis. If the first screening indicates that the baby has this cider, the doctor may advise the expectant mother to undergo another study (it will be needed if the lady is going to decide on an abortion). This is a transcervical amnioscopy. During this procedure, samples of chorionic villi will be taken and sent to the laboratory for thorough processing. The results are then 100% correct. An important point: this procedure can be dangerous for the child's life, therefore, when making a decision, parents should think about it carefully. Doctors cannot force a woman to do this research.

Second screening

We study further the topic: "Down syndrome: signs during pregnancy." So, the second screening will also be important during the bearing of the baby. It is carried out in the second trimester between the 16th and 18th weeks of pregnancy. Signs of the syndrome when examining the mother's blood:

  1. The hCG level is above 2 MoM.
  2. AFP level less than 0.5 MoM.
  3. Free estriol - less than 0.5 MoM.
  4. Inhibin A - more than 2 MoM.

Ultrasound diagnostics will also be important:

  1. The size of the fetus is less than normal.
  2. Shortening or absence of the nasal bone in the baby.
  3. Shortening of the femur and humerus.
  4. The baby's upper jaw will be smaller than normal.
  5. The baby's umbilical cord will have one artery instead of two.
  6. The fetal bladder will be enlarged.
  7. The child most often has a rapid heartbeat.
  8. A woman may have oligohydramnios. Or amniotic fluid may be absent altogether.

Abortion

What else should women who are considering the topic "Down Syndrome: Signs of Pregnancy" be aware of? So, no one can persuade them to terminate pregnancy. This should be well remembered. The doctor can only advise the following actions:

  1. Termination of pregnancy and disposal of a fetus with pathology.
  2. Give birth, in spite of everything, to a baby with special needs (in this case, you will need not only additional strength, but also funds).

About mother

So, let's say, literally everything that is detected in this pathology is present. What will the expectant mother feel while carrying such a special baby? Nothing unusual. This will not affect the external condition and health of a woman at all. Those. everything that happens to other pregnant women will also happen to a mother whose unborn child has a pathology. So, just by one external sign or the presence of certain symptoms, a woman will not be able to say whether her baby has deviations.

Probabilities

We further consider such a pathology as Down syndrome. During pregnancy, especially if a specific diagnosis has been made, many parents are interested in: if one child was born with a pathology, is there a chance that a second baby will be born without deviations? There are two options here:

  1. If a child has the most typical tripling of chromosome 21, then the probability of a subsequent pregnancy with the same pathology is 1%.
  2. If this is a translocation form inherited from mom or dad, the probability is higher. However, doctors do not have exact figures.

About kids

Probably not everyone knows that children with this pathology are called "sunny babies". These people have mental retardation (can range from mild to more complex forms). But this is not a verdict. Thanks to modern education programs and the development of scientists, such children can lead a completely normal life. If everything is done correctly, the child is not only able, but also quite capable of learning to write and read. Such children, like everyone else, love to "go out", walk, look at something new, bright and beautiful. In big cities there are special centers where babies with such a diagnosis are trained. There are even specific schools for Down syndrome patients. Undoubtedly, a person with this diagnosis sometimes cannot do without outside help, this must be remembered. Therefore, if the fetus is diagnosed with Down syndrome, during pregnancy, parents must carefully weigh the pros and cons in order to make the right decision.

Signs of Down syndrome during pregnancy can be detected at 10-14 weeks. The first test results may turn out to be false positive. Final conclusions can be drawn only after a comprehensive survey. Modern medicine pays close attention to the diagnosis of anomaly. Children with chromosomal disorders are special. Caring for such a baby and upbringing requires a lot of moral strength from the parents, the availability of free time and finances. Early prenatal diagnosis allows a woman, after weighing all the pros and cons, to make a decision regarding pregnancy.

Down syndrome is a genetic defect that is characterized by a violation of the chromosome set. Normally, there should be forty-six chromosomes. Children born with Down syndrome have one more. This affects the overall development of the baby and his health.

Special children are often born. According to statistics, a chromosomal abnormality occurs in one newborn out of 700. Children with this diagnosis are called "sunny". They are gullible, smile all the time, do not know how to get angry. However, due to mental and physical disabilities, it is difficult for "sunny" children to adapt to life in society. It is impossible to accurately predict how a child with chromosomal pathology will develop. As well as it is impossible to cure a genetic defect. Difficulties arise in determining the causes of the syndrome. However, with all the difficulties of understanding a genetic failure, it can be determined in utero. Tests help identify a chromosomal abnormality. They allow you to recognize the signs of the syndrome in the first trimester.

Down syndrome causes

Genetics is an extremely complex science. Doctors cannot give an exact answer why certain genetic mutations occur, in particular, why an extra chromosome arises. A "sunny" baby can be born to an absolutely healthy couple. It has long been proven that the lifestyle of partners, taking medications during gestation, and external factors often affect the course of pregnancy and the development of the fetus. However, none of these factors is the cause of the gene failure. Of course, pregnancy must be planned and the first step to having a healthy baby is to rethink your lifestyle. This reduces the risk of developing various diseases in the fetus, but not genetic defects.

A chromosomal abnormality can be called a mistake of nature. Still, geneticists identify several factors that increase the risk of having a special child:

It is believed that a "sunny" child with a high probability can be born to a woman whose mother gave birth to her after thirty-seven years. The presence of a genetic malfunction is often associated with a lack of folic acid in the mother's body. There is indeed a correlation between low folate levels and congenital mutations. However, the effect of folic acid on the chromosome set requires additional research and evidence.

Many factors that provoke the appearance of an extra chromosome remain a mystery to geneticists. The emergence of gene defects occurs at a level that has not yet been understood by medicine.

Can pathology be prevented?

Preventive measures help to avoid the development of many diseases in the fetus. Unfortunately, there is no prevention of genetic abnormalities. However, doctors give several recommendations that allow you to at least minimize the risks of developing Down syndrome:

  • pregnancy needs to be planned;
  • do not delay the birth of a child: it is desirable that the mother's age does not exceed 35 years;
  • taboo on family ties between partners;
  • before and after conception, you need to consult a geneticist;
  • at the planning stage, and then in the first trimester, a woman is recommended to take folic acid and multivitamins.

Having become pregnant, you need to register with the antenatal clinic as early as possible. This is a guarantee of timely diagnostic analyzes and tests aimed at identifying signs of various pathologies of the embryo.

Screening diagnostics of chromosomal abnormalities in the fetus

Modern medicine can diagnose Down syndrome in utero. Expectant mothers are offered to undergo screening diagnostics, which allows them to determine violations of embryonic development and identify signs of various pathologies. Is it mandatory to undergo research? What signs of Down syndrome in the fetus does a comprehensive examination reveal? Do tests and other diagnostic measures carry additional risks for pregnancy? For many women in an interesting position, it is important to find answers to these questions. In each individual case, only a doctor can give exhaustive answers.

How to define Down syndrome in pregnancy? Earlier, the birth of special children was a shocking surprise for parents. Thanks to modern medicine, it is possible to identify a genetic abnormality during the period of intrauterine development. There are several diagnostic methods to suspect a chromosomal abnormality in the fetus. The initial check comes down to non-invasive methods. These include:

  • hCG analysis;
  • AFP analysis.

Between the tenth and thirteenth weeks of pregnancy, expectant mothers undergo a scheduled ultrasound scan. This procedure is not intended to detect Down syndrome. It allows you to determine how the fetus is developing as a whole, to see deviations from the norm. However, according to the results of ultrasound, one can also assume a genetic chromosomal pathology in the embryo.

The accuracy of screening diagnostics largely depends on the qualifications of the specialist, the availability of modern equipment in the clinic. In combination with an ultrasound scan, a blood test is performed for Down's syndrome. The analysis can be considered informative from the 14th week. With its help, biochemical markers in the blood serum are determined. For antenatal diagnosis of a chromosomal abnormality, indications of hCG and AFP are important. When the test results show a low concentration of protein and hormone, the probability of a genetic disorder is high. However, on this basis, it is impossible to accurately determine the presence of the syndrome in the embryo.

The analyzes must be repeated on schedule. If there is a high likelihood of a chromosomal abnormality in the fetus, the doctor will refer you for additional diagnostic tests and tests. The expectant mother should remain calm until the diagnosis is clarified. Subsequent diagnosis often does not confirm screening.

Signs of Down syndrome by ultrasound

Ultrasound cannot accurately determine the presence of Down syndrome in a fetus, but the signs during pregnancy can be recognized precisely with the help of ultrasound. A deviation from the norm is indicated by:

  • increased collar space;
  • hypoplasia of the nasal bone;
  • the size of the fetus is less than normal;
  • reduced upper jaw;
  • shortened femur and humerus;
  • an enlarged bladder;
  • heart palpitations;
  • the presence of only one umbilical artery;
  • changes in blood flow;
  • lack of amniotic fluid or lack of water.

The main marker of the syndrome on the first ultrasound is the size of the collar space. Each fetus has a small amount of fluid in the cervical region, which forms the diameter of the collar space. With transvaginal ultrasound, 2.5 mm is considered an acceptable indicator. If the procedure is performed through the abdominal wall, then a result not exceeding 3 mm can be considered the norm. Overestimated rates are the first sign of Down syndrome. Primary diagnosis is carried out when the timing is still short, so other signs are rarely detected.

In the second trimester, ultrasound examines the length of the nasal bones of the fetus. This indicator is important for the diagnosis. Every second child with a chromosomal abnormality has hypoplasia of the nasal bone. After 16 weeks with the help of ultrasound, it is already possible to see more characteristic signs of genetic pathology, if any.

Ultrasound does not always help determine the syndrome. However, it indicates that pregnancy is risky. The results of the ultrasound procedure determine if additional diagnostics for Down syndrome is needed during pregnancy.

Invasive diagnostic methods

When primary tests show a positive or questionable result, the doctor prescribes additional procedures. They help to accurately diagnose. Specific diagnostic methods are invasive. These include:

  • amniocentesis;
  • cordocentesis;
  • chorionic test.

At the tenth to twelfth week, if indicated, a chorionic biopsy can be performed. This procedure involves the collection of the outer fetal membrane and the subsequent examination of the material. By the chorionic villi, you can find out the genetic characteristics of the fetus. The collection of material involves penetration into the uterus. The analysis results will be ready in a couple of days.

Starting from the seventeenth - twenty-second week, the doctor may recommend the expectant mother from the risk group to undergo the procedure for taking amniotic fluid. This technique is called amniocentesis. Amniotic fluid can tell about the chromosome set of a child. A special needle is used for the procedure. With its help, a hole is created in the fetal membrane. After sampling, the liquid is examined under laboratory conditions. The results will be ready only in two to three weeks. In parallel, cordocentesis can be performed. This method involves examining the umbilical cord blood.

Risks with additional diagnostic methods

With the help of invasive methods, Down's syndrome is diagnosed practically without errors. However, the procedures are characterized not only by high accuracy, but also by the risks of pregnancy complications. These risks include:

  • miscarriage (the highest prevalence is observed with chorionic biopsy - 3%);
  • outpouring of amniotic fluid;
  • infection of the embryo;
  • detachment of membranes.

Due to possible complications, invasive methods are not widely used. Analyzes are carried out for pregnant women for special indications. If the initial screening did not reveal factors indicating Down's syndrome, then special tests are not prescribed. The expectant mother should be aware of the risks of specific prenatal studies. Parents independently make a decision on additional examination. Tests are optional.

A balanced approach to the question of the need for invasive procedures aimed at identifying Down syndrome in utero will help a consultation with a highly qualified specialist.

What if the diagnosis was confirmed?

If the analysis for Down during pregnancy confirmed signs of a gene disorder, the parents will have to make a difficult decision. Pathology cannot be cured either in utero or when the baby is born. You can't argue with genetics. When the diagnosis is established, there are two ways: to have an abortion or to give birth to a child with a genetic abnormality. Abortion for medical reasons is done at any time. If the fetus is diagnosed with Down syndrome, the doctor has no right to refuse the woman to terminate the pregnancy. But he cannot insist on this either. The task of the doctor is to correctly diagnose, to warn about possible risks. The final decision always rests with the parents.

After learning that the screening has shown signs of a chromosomal defect, it is important not to take any hasty steps. You must first wait for confirmation of tests for Down syndrome, because during pregnancy, diagnostic errors often occur. Screening is not able to give one hundred percent guarantee that a baby with a genetic abnormality is developing in the womb. It is advisable to consult with several geneticists. It is important to remember that accurate screening results can only be obtained with modern equipment. That is why you need to choose a good clinic for the first ultrasound. On the recommendation of doctors, you need to undergo specific prenatal diagnostic procedures.

If a woman decides to give birth to a child with a chromosomal abnormality, she must be prepared for what will be difficult. But proper care, stimulation of development and appropriate upbringing helps to make a full-fledged member of society out of a "sunny" child.

Down syndrome predictions

Children with Down syndrome always have a lag in physical and mental development. However, development projections depend entirely on the willingness of parents to deal with a special baby. If you invest a lot in a child with a genetic pathology, then speech and intellectual delay will not be so dramatic. "Sunny" children can be trained and adapted to society. However, it is much harder for them than for their peers.

The primary task of parents is to develop the child's speech and communication skills. A special baby needs medical supervision. It should be carried out throughout life, because over time, symptoms of concomitant diseases may appear. For example, in parallel with genetic pathology, heart disease and severe gastrointestinal anomalies often develop. Provided appropriate medical and social support, doctors give the following predictions:

  • The child will learn to walk and talk, although speech problems are inevitable.
  • A special child is able to learn the basics of literacy. However, it is important to bear in mind that it is more difficult for him than for other children.
  • A "sunny" child can study not only in a specialized school, but also in a general education one.
  • People with Down syndrome can become a part of society: find friends, enter into marriage unions, work, realize themselves in creativity.
  • People with this diagnosis today live on average 50 years. Although not long ago, the average life expectancy was significantly lower.

Having decided to keep the pregnancy, despite the diagnosis, you need to focus on positive prognosis. All over the world, people with genetic disabilities live their normal lives. This is possible even in the CIS countries, where the issue of adaptation of special children to society has been given close attention in recent years.