Down syndrome: signs of pregnancy, causes

Every child, regardless of the problems that may arise, must be loved and desired by his parents. In this article, I want to talk about how the pregnancy proceeds with a child with Down's syndrome and what difficulties can arise in this case.

A few words about the disease

This disease got its name in honor of the doctor who examined it - John Langdon Down. The physician started his work in the distant year of 1882, and published the results in 4 years. What can be said about the disease itself? So, this is a pathology that has a chromosomal nature: a malfunction occurs in the process of cell division. The scientists proved that the children born with Down syndrome have an additional, 47th chromosome (in healthy people each cell has 46 chromosomes that carry important genetic information). If to tell more simply people with the given diagnosis are considered mentally retarded (though so them to name it is not necessary according to morally-ethical norms).

Data

The main facts about this disease:

1. Down syndrome during pregnancy affects boys and girls equally.
2. Statistics: for 1100 healthy babies one baby is born with this syndrome.
3. March 21 is a day of solidarity with people who have Down syndrome. It is interesting that the date was chosen not by chance. After all, the cause of the disease is trisomy on 21 chromosomes (the number is 21, the ordinal number of the month is 3).
4. People with this diagnosis can live up to 60 years. And thanks to modern developments, they are able to conduct a completely normal full life (they can read, write, participate in public life).
5. The disease has no boundaries or at-risk groups. Such a child can be born to a woman regardless of level of education, social status, color or health.

Causes

We consider further the topic: "Down Syndrome: signs during pregnancy". What causes can contribute to the onset of this disease? So, as was said above, it is responsible for all the extra 47th chromosome. All the processes that lead to the onset of the syndrome occur at the time of intrauterine fetal formation, during cell division. Modern specialists say that these are random chromosomal mutations, which are completely independent of external factors.

Risk groups and statistics

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

1. 20-25 years. The risk of this symptom in a child is 1/1562.
2. 25-35 years. The risk increases: 1/1000.
3. 35-39: 1/214.
4. Older than 45 years. The risk is as great as possible. In this case, for 19 children one baby is born with Down's syndrome.

As for the popes, then the conclusions of physicians are not so unambiguous. However, most experts say that a great opportunity to conceive a "sunny child" is found in fathers, whose age is more than 42 years.

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 important questions:

1. Age.
2. Ethnicity.
3. Bad habits (smoking).
4. Body weight.
5. Presence of diabetes mellitus.
6. The number of pregnancies.
7. Conception: Was the IVF procedure applied?

However, it is still necessary to say that due to the test program alone, one hundred percent to exclude the risk of the baby's disease with this syndrome is impossible. To do this, you need to use additional funds.

How to find out?

We continue our discussion on the topic: "Down's syndrome: signs during pregnancy". As already mentioned above, this pathology is of a genetic nature. Therefore, you can learn about it at a time when the baby is in the process of intrauterine development. What kind of research will be relevant in this case?

1. Ultrasound. For the first time should be held in the period from 11 to 13 weeks. In this case, the collar space of the baby will be examined, which will give an opportunity to say whether there is a given pathology in the child (an extra fold may be visible on the 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 donate blood from the vein. If the fetus has a pathology, the mother will have an elevated level of the β-subunit of CG (it will be more than 2 MoM).
3. Plasma analysis. The risk of having a syndrome in a unborn child may be if the PAPP-A index is less than 0.5MoM.

It is worth mentioning that this study is called "combined screening analysis" (or the first screening test). Only in a complex it is possible to receive results which will be true on 86%.

Additional research

So, Down syndrome, signs during pregnancy. Ultrasound - as a method of investigation - for the decision of an exact diagnosis will simply not be enough. If the first screening testifies that the baby has a given cider, the doctor may advise the future mom to go through 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 treatment. The results in this case are 100% correct. Important point: this procedure can be dangerous for the life of the child, therefore, when making a decision, parents should think about it. Doctors force a woman to this study can not.

Second Screening

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

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

Ultrasound diagnostics will also be important:

1. The size of the fruit is less than normal.
2. Shortening or lack of nasal bone in the baby.
3. Shortening of the femoral and humerus bones.
4. 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 bladder of the fetus will be enlarged.
7. The child often has heart palpitations.
8. A woman may have hypochlorism. Or amniotic fluid may be absent altogether.

Abortion

What else should women know about the topic: "Down Syndrome: signs during pregnancy"? So, to incline into the interruption of pregnancy no one can. You need to remember this well. The doctor only can advise the following actions:

1. Interruption of pregnancy and getting rid of the fetus with pathology.
2. To give birth, in spite of everything, to a child with special needs (in this case, not only additional forces, but also means will be needed).

It is up to the parents of the child to make a decision about how the events will develop further.

About mother

So, Down Syndrome. Signs during pregnancy, let's say, literally all that are revealed in this pathology, are present. What will the expectant mother during the gestation of such a special baby feel? Nothing unusual. On the external state and the health of a woman this will not affect at all. Those. Everything that happens to other pregnant women will also happen to the mother, whose future child has a pathology. So only on one external signs or presence of certain signs the woman can not tell or say about, whether has its kid deviations or rejections.

Probabilities

We further consider such a pathology as Down's syndrome. In pregnancy, especially if a specific diagnosis is made, many parents are interested: if one child was born with a pathology, is there a probability of 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 subsequent pregnancy with the same pathology is 1%.
2. If this is a translocation form inherited from the mother or father, the probability is higher. However, doctors do not have exact figures.

About babies

Probably not everyone knows that children with this pathology are called "solar babies". These people have mental retardation (can range from easy to more complex forms). But this is not a verdict. Thanks to modern educational programs and the development of scientists, these children can lead a perfectly normal life. If everything is done correctly, the child not only can, but is also fully able to learn how to write and read. Such children, like everyone else, like to "go out into the light", walk, look at something new, bright and beautiful. In large cities, there are special centers, where children are diagnosed 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 the fetus has Down syndrome, during pregnancy, parents should carefully weigh the pros and cons to make the right decision.