Down syndrome: symptoms during pregnancy, causes

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

A few words about the disease

This disease got its name in honor of the doctor who examined him - John Langdon Down. The physician began his work back in 1882, but published the results after 4 years. What can be said 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 proven that babies born with Down Syndrome have an extra, 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 to be mentally retarded (although they should not be called that according to moral and ethical standards).

Data

Key facts about this disease:

1. Down syndrome during pregnancy affects boys and girls equally.
2. Statistics: for 1100 healthy babies, 1 baby is born with this syndrome.
3. March 21 is a day of solidarity with people who have Down syndrome. Interestingly, the date was not chosen by chance. After all, the cause of the disease is trisomy on chromosome 21 (number 21, month ordinal - 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 life (they can read, write, participate in public life).
5. A disease has no boundaries or risk groups. Such a child can be born to a woman, regardless of level of education, social status, skin color or health status.

Causes

We further consider the topic: "Down Syndrome: symptoms during pregnancy." What causes can contribute to this disease? So, as already mentioned above, is responsible for all the extra 47th chromosome. All processes that lead to the onset of the syndrome occur at the time of fetal formation of the fetus, during the period of cell division. Modern experts say that these are random chromosomal mutations 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. Risk increases: 1/1000.
3. 35-39: 1/214.
4. Over 45 years old. The risk is greatest. In this case, for 19 children, one baby is born with Down syndrome.

As for the dads, then the conclusions of the doctors are not so clear. However, most experts say that fathers whose age is more than 42 years old have a great opportunity to conceive a “sunny child”.

Tests

Modern scientists have invented special tests that can eliminate 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.
6. The number of pregnancies.
7. Conception: whether the IVF procedure was applied.

However, it is still worth saying that thanks to the test program alone, it is impossible to exclude the risk of a baby getting this syndrome by one hundred percent. For this you need to use additional funds.

How to find out?

We continue the discussion on the topic: “Down Syndrome: symptoms during pregnancy.” As already mentioned above, this pathology has a genetic nature. Therefore, you can learn about it even at a time when the baby is in the process of fetal development. What research will be relevant in this case?

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

It is worth mentioning that this study is called a “combined screening analysis” (or the first screening test). Only in the complex can we obtain results that will be 86% correct.

Additional study

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

Second screening

We further study the topic: "Down Syndrome: symptoms during pregnancy." So, the second screening will also be important during the bearing of the baby. It is held in the second trimester between the 16th and 18th weeks of pregnancy. Symptoms of the syndrome in the study of maternal 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 lack of a nasal bone in a baby.
3. Shortening of the femur and humerus.
4. The upper jaw of the baby in size will be less than normal.
5. In the umbilical cord of the child there will be 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 low water. Or amniotic fluid may be absent altogether.

Abortion

What else should women who are considering the topic: “Down Syndrome: Symptoms in Pregnancy” know? So, nobody can persuade them to terminate pregnancy. This must be remembered well. The doctor can only advise the following actions:

1. Termination of pregnancy and disposal of the fetus with pathology.
2. In spite of everything, give birth to a baby with special needs (in this case, not only additional forces will be needed, but also means).

Only the child’s parents can decide on how events will develop further.

About mother

So, Down syndrome. Signs during pregnancy, let’s say, literally all that are detected with this pathology are present. What will the future mother feel during the bearing of such a special baby? Nothing unusual. This will not affect the woman’s appearance and health at all. Those. everything that happens to other pregnant women will also happen to the mother, whose unborn child has a pathology. So, only on the basis of external signs 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 is made, many parents are interested in: if one child was born with a pathology, is there a chance of having a second baby without deviations? There are two options:

1. If a child has the most typical tripling of 21 chromosomes, 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 have no exact numbers.

About the kids

Probably not everyone knows that children with this pathology are called "sunny babies." These people experience mental retardation (it can vary from lungs to more complex forms). But this is not a sentence. Thanks to modern educational 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 able to learn how to write, read. Such children, like everyone else, love to “go out,” to walk, look at something new, bright and beautiful. In large cities there are special centers where they engage in activities with kids with such a diagnosis. There are even certain schools for patients with Down syndrome. Undoubtedly, a person with this diagnosis sometimes can not do without outside help, this must be remembered. Therefore, if Down Syndrome is detected in the fetus, during pregnancy, parents should carefully weigh the pros and cons in order to make the right decision.