Every child, no matter 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 of 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 researched it - John Langdon Down. The physician began his work back in 1882, but published the results 4 years later. 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 children born with Down syndrome have an additional, 47th chromosome (in he althy 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 moral and ethical standards).
Facts
Key facts about this disease:
- Down syndrome during pregnancyaffects boys and girls equally.
- Statistics: 1 baby with this syndrome is born for every 1100 he althy babies.
- March 21 is a day of solidarity with people with Down syndrome. Interestingly, the date was not chosen by chance. After all, the cause of the disease is trisomy on chromosome 21 (the number is 21, the ordinal number of the month is 3).
- 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).
- The disease has no boundaries or risk groups. Such a child can be born to a woman regardless of the level of education, social status, skin color or state of he alth.
Reasons
We further consider the topic: "Down syndrome: signs during pregnancy." What causes can contribute to the occurrence of this disease? So, as already mentioned above, the extra 47th chromosome is responsible for everything. All the processes that lead to the occurrence 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 chromosomal mutations that are completely independent of external factors.
Risk groups and statistics
The risk of Down syndrome during pregnancy differs for different groups of women:
- 20-25 years old. The risk of this symptom in a child is 1/1562.
- 25-35 years old. Risk increases: 1/1000.
- 35-39:1/214.
- Over 45 years old. The risk is the greatest. In this case, for 19 children, one baby is born with Down syndrome.
As for dads, the conclusions of doctors are not so unambiguous. However, most experts say that fathers over 42 years of age have a greater 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:
- Age.
- Ethnicity.
- Bad habits (smoking).
- Body weight.
- Presence of diabetes.
- Number of pregnancies.
- Conception: has IVF been 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 this syndrome. To do this, you need to use additional funds.
How do I know?
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 learn about it even at a time when the baby is in the process of intrauterine development. What research will be relevant in this case?
- Ultrasound. The first time should be carried out in the period from 11 to 13 weeks. In that case it willthe collar space of the baby is examined, which will make it possible to say whether the child has this pathology (an extra fold may be visible on the ultrasound examination or the allowable thickness of the collar zone will be more than 3 mm)
- Mother's 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 β-CHG subunit (it will be more than 2 MoM).
- 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 is worth mentioning that this study is called "combined screening analysis" (or first screening test). Only in combination can you get results that will be 86% correct.
Additional study
So, Down syndrome, signs of 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, 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 dangerous for the life of the child, therefore, when making a decision, parents should think about it carefully. Force Doctora woman is not allowed to this study.
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 in the study of maternal blood:
- HCG above 2 MoM.
- AFP less than 0.5 MoM.
- Free estriol - less than 0.5 MoM.
- Inhibin A - more than 2 MoM.
Ultrasound diagnostics will also be important:
- Fetal size is smaller than normal.
- Shortening or absence of the nasal bone in the baby.
- Shortening of the femur and humerus.
- Baby's upper jaw will be smaller than normal.
- The baby's umbilical cord will have one artery instead of two.
- The fetal bladder will be enlarged.
- Children are most likely to have heart palpitations.
- A woman may have oligohydramnios. Or there may be no amniotic fluid at all.
Abortion
What else should women who consider the topic: “Down Syndrome: Signs of Pregnancy” know about? So, no one can persuade them to terminate their pregnancy. This must be well remembered. The doctor can only advise the following actions:
- Abortion of pregnancy and disposal of a fetus with pathology.
- To give birth, no matter what, to a baby with special needs (in this case, not only additional forces will be needed, but also funds).
Acceptthe decision on how events will develop further can only be the parents of the child.
About mother
So, Down syndrome. Signs during pregnancy, let's say, literally all that are detected in this pathology, are present. What will the expectant mother feel while carrying such a special baby? Nothing unusual. This will not affect the external condition and he alth 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, by only one external sign or the presence of certain symptoms, a woman will not be able to tell if her baby has abnormalities.
Probabilities
We further consider such a pathology as Down's 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 a second baby being born without deviations? There are two options here:
- If a child has the most typical tripling of chromosome 21, then the probability of a subsequent pregnancy with the same pathology is 1%.
- If it is a translocation form inherited from mom or dad, the probability is higher. However, doctors do not have exact numbers.
About kids
Probably not everyone knows that children with this pathology are called "sunny babies". These people have mental retardation (may range from mild toto 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 not only can, but is quite able to learn 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 they deal with babies with such a diagnosis. There are even certain schools for patients with Down syndrome. 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 should carefully weigh the pros and cons in order to make the right decision.
