Pregnancy is a very special and unique moment full of changes, but also of doubts and insecurities. Concerns for the baby's health are present, and one of the common questions is what is the probability that your baby has down syndrome. Today we clear all doubts about it.
Nowadays, thanks to new technologies, it is possible to see the development of the baby in the womb and there are already tests that are carried out to detect anomalies such as Down syndrome. Not all of them are equally reliable and some also have risks for the mother and the baby. It is necessary know what these tests are, when they are done, their risks and their reliability.
Risk factors for down syndrome
Down syndrome is a genetic disorder that occurs when abnormal cell division occurs, causing an additional total or partial copy of chromosome 21. This type of error is called nondisjunction, which occurs during the formation of an egg or a sperm. In 90% of cases it comes from the mother's ovum, 4% from the father's sperm and the rest of cases from an error while the embryo grows.
One of the factors that increase the chance of having down syndrome es the age of the mother. The risk increases from 32 years of age and goes up until 45 years. If you have already had a child with down syndrome, it is likely that one of the two parents is a carrier of a translocation and the risk of it happening again increases.
The truth is that there is no specific reason for the appearance of down syndrome. It is the most common human genetic alteration although many things are still unknown about it.
Tests to detect it during pregnancy
There are different tests that are performed to find out whether or not the baby has down syndrome that are performed during pregnancy. Let's see what those tests are:
- Non-invasive tests. They are carried out through a simple blood test, and it is totally safe. It is performed in the first trimester, between weeks 10 and 13 of pregnancy and allows the detection of more frequent chromosomal abnormalities. It does not offer a diagnosis, only a risk of possibility that allows you to decide whether to do other tests or not.
- Nuchal transparency test. Through a ultrasound measures the transparency of the neck of the fetus. It is also done in the first trimester of pregnancy, between weeks 11 and 13. The greater the thickness of the nuchal transparency, the worse the diagnosis. It is also non-invasive, and there is no risk to the mother or the baby.
- Amniocentesis. It is a more reliable test to detect down syndrome. It consists of extracting a small sample of amniotic fluid through a needle through the mother's abdomen. This test is invasive and has a risk of miscarriage of 1-2%. Therefore, it will be necessary to analyze the risks and benefits of each case.
Down syndrome complications
People with down syndrome can have the following complications:
- Congenital anomalies, some mild and others more serious that require surgical intervention.
- Eye problems, such as cataracts, nearsightedness, or farsightedness.
- Hearing problems.
- Hip dislocation
- Sleep apnea.
- Digestive and intestinal problems
- Thyroid problems such as hypothyroidism.
- Late development of the teeth.
Fortunately most of these problems can be treated, and the life expectancy of these people has increased considerably. Do not miss the myths and truths about down syndrome.
If you are pregnant and you have doubts about whether or not your child has Down syndrome, it will be your doctor who will indicate the tests to carry out according to your case, and the risks and reliability of each test to be carried out.
Because remember ... thanks to science you can be more calm when it comes to the health of your child.