Pregnancy is a very special and unique moment full of changes, but also with doubts and insecurities. Baby’s health concerns are present, and one of the common questions is what is the likelihood of your baby’s down syndrome. Today we clear all the doubts about it.
Today thanks to new technologies you can already see the development of the baby in the womb and there are already tests that are performed to detect abnormalities such as down syndrome. Not all are equally reliable and some are also at risk for mother and baby. It is necessary to know what these tests are, when they are done, their risks and their reliability.
Risk factors for having down syndrome
Down syndrome is a genetic disorder that originates when abnormal cell division occurs, causing a full or partial additional copy of chromosome 21. This type of error is called non-disjunction, which occurs during the formation of an egg or sperm. In 90% of cases comes from the mother’s egg, 4% from the father’s sperm and the rest of cases due to an error while the embryo grows.
One of the factors that increase the likelihood of having down syndrome is the mother’s age. The risk increases from the age of 32 and goes up to 45 years. If you have already had a child with down syndrome, one of the two parents is likely to have a translocation and the risk of this happening again increases.
The truth is that there is no concrete reason for the onset 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 done to find out whether or not the baby has down syndrome that are done during pregnancy. Let’s see what these tests are:
- Non-invasive testing. They are done through a simple blood test, and it is completely safe. It is performed in the first trimester, between weeks 10 and 13 of pregnancy and allows to detect more frequent chromosomal abnormalities. It doesn’t offer a diagnosis, just a risk of possibility that allows you to decide whether to do other tests or not.
- Nucal transparency test. Ultrasound measures the transparency of the nape of the fetus. It is also done in the first trimester of pregnancy, between the 11th and 13th week. The greater the thickness of the nuchal transparency, the worse the diagnosis. It is also non-invasive, and there is no risk for either the mother or the baby.
- Amniocentesis. It is a more reliable test for down syndrome. It consists in removing 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.
Complications of down syndrome
People are down syndrome may have the following complications:
- Congenital abnormalities, some mild and others more severe requiring surgical intervention.
- Eye problems, such as cataracts, myopia, or farsightedness
- Hearing problems.
- Hip dislocation.
- Sleep apnea.
- Digestive and intestinal problems.
- Thyroid problems such as hypothyroidism.
- Late development of the dentition.
Fortunately most of these problems can be addressed, and the life expectancy of these people has increased considerably. Don’t miss the myths and truths about down syndrome.
If you are pregnant and have doubts about whether or not your child has down syndrome, your doctor will tell you the tests to be performed according to your case, and the risks and reliability of each test to be performed.
Because remember… thanks to science, you can be more calm when it comes to your child’s health.