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 a child with Down syndrome is going to be pregnant and what difficulties may arise.
A few words about the disease
This disease got its name in honor of the doctor who investigated it – John Langdon Down. He began his work in the distant 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: there is a failure in the process of cell division. Scientists have shown that children born with Down syndrome have an additional, 47th chromosome (in healthy people, each cell has 46 chromosomes that carry important genetic information). If it is simpler to say, then people with this diagnosis are considered mentally retarded (although they should not be so called according to moral and ethical standards).
Basic facts about the disease:
- Down syndrome in pregnancy affects boys and girls equally.
- Statistics: for 1100 healthy babies, 1 baby is born with this syndrome.
- March 21 is a day of solidarity with people who have Down syndrome. Interestingly, the date was not chosen randomly. After all, the cause of the disease is trisomy 21 chromosome 21 (number 21, the ordinal number of the month is 3).
- People with this diagnosis can live up to 60 years. And thanks to modern practices, they are able to lead a completely normal, full-fledged 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 level of education, social status, skin color or state of health.
We further consider the topic: “Down syndrome: signs of pregnancy.” What causes can cause this disease? So, as mentioned above, is responsible for all the extra 47th chromosome. All processes that lead to the emergence of the syndrome occur at the time of fetal intrauterine formation, 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:
- 20-25 years. The risk of this symptom in a child is 1/1562.
- 25-35 years. The risk increases: 1/1000.
- 35-39: 1/214.
- Over 45 years old. The risk is greatest. In this case, for 19 children, one baby is born with Down syndrome.
As for the popes, then the conclusions of physicians are not so straightforward. However, most experts say that a great opportunity to conceive a “sun child” is available to fathers, who are more than 42 years old.
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 crucial questions:
- Bad habits (smoking).
- Body weight.
- The presence of diabetes.
- The number of pregnancies.
- Conception: Has IVF been applied?
However, it’s still worth saying that thanks to the test program alone, it is impossible to eliminate the risk of a baby’s illness with this syndrome. For 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 has a genetic nature. Therefore, you can learn about it at a time when the baby is in the process of fetal development. What kind of research in this case will be relevant?
- Ultrasound. For the first time should be held 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 ultrasound examination may show an extra fold or the admissible thickness of the neck area 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 elevated level of the β-subunit of CG (it will be more than 2 MoM).
- Plasma analysis. The risk of the presence of the syndrome in an unborn child may be in the event that the rate of PAPP-A is less than 0.5 MoM.
It is worth saying that this study is called “combined screening analysis” (or the first screening test). Only in the complex can you get results that will be true at 86%.
So, Down syndrome, signs of pregnancy. Ultrasound – as a research method – for the determination of an accurate diagnosis is simply not enough. 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, chorionic villi samples will be taken, which will be sent to the laboratory for thorough processing. The results in this case are 100% correct. Important point: this procedure can be dangerous for the life of the child, therefore, making a decision, parents should think about it carefully. Doctors can not force a woman to this study.
We further study the topic: “Down syndrome: signs of pregnancy.” So, the second screening will also be important during the carrying 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:
- HCG levels above 2 MoM.
- The level of AFP is less than 0.5 MoM.
- Free estriol – less than 0.5 MoM.
- Inhibin A – more than 2 MoM.
Ultrasound diagnosis will also be important:
- The size of the fetus is less than normal.
- The shortening or absence of the nasal bone of the baby.
- Shortening of the femoral and humeral bones.
- The upper jaw of the baby in size will be less than the norm.
- In the umbilical cord of the child there will be one artery instead of two.
- The bladder of the fetus will be enlarged.
- The child most often has heart palpitations.
- A woman may have shallow water. Or the amniotic fluid may be absent altogether.
What else should women know who are considering the topic: “Down Syndrome: Signs of Pregnancy”? So, no one can incline them in abortion. It needs to be carefully remembered. The doctor can only advise the following actions:
- Termination of pregnancy and getting rid of the fetus with pathology.
- To give birth, in spite of everything, a baby with special needs (in this case, not only additional forces will be needed, but also means).
Decide how events will develop further, can only the parents of the child.
So, Down syndrome. Signs during pregnancy, let’s say, literally all that are identified in this pathology, are there. What will the future mother feel during the birth of such a special baby? Nothing unusual. On the external condition and the health of women is absolutely no effect.
We consider further such pathology as Down syndrome. During pregnancy, especially if a specific diagnosis is made, many parents are interested: if one child was born with pathology, is there a chance of having a second baby 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 have no exact figures.
Probably, not everyone knows that babies with this pathology are called “sunny babies”. These people have mental retardation (can vary from mild to more complex forms). But this is not a sentence. Thanks to modern programs of education and development of scientists, such children can lead quite normal lives. If everything is done correctly, the child can not only be able to learn how to write or read. Such kids, 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 kids with such a diagnosis. There are even certain schools for patients with Down syndrome. Undoubtedly, a person with this diagnosis can sometimes not do without outside help, this must be remembered. Therefore, if Down syndrome is detected in a fetus, during pregnancy, parents should carefully weigh the pros and cons in order to make the right decision.