Do not ignore the risk of hereditary diseases!

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According to statistics, if the mother is over 35 years old, there is a 385 risk that the little one will have Down syndrome, and one in 11 babies can be born with this condition if the mother is 49 years old.

Genetic tests are all the more useful if there are cases of congenital malformations in your family or if the pregnant woman had a viral infection in the first month of pregnancy. To avoid the risk of such problems, doctors advise pregnant women to do some tests. Here’s what this is about!

The triple test is not painful

Between weeks 15 and 20 of pregnancy, it is advisable to do the triple test, a painless and non-invasive analysis that provides information about the risk of Down syndrome. This disease can cause impairments in hearing, vision, speech, understanding, movement, as well as cardiac and cerebral malformations or blood abnormalities. In addition, the triple test also determines the risk of Edward’s syndrome, manifested by mental and growth retardation, but also by spina bifida (malformation of the spine).

The analysis consists of determining three substances in the mother’s blood: a protein produced by the baby, a hormone produced by the placenta and one produced by both the fetus and the placenta. Specialists say that the efficiency of genetic tests is 80%, and the results are available no later than two weeks after the blood collection. The double test, also a blood test, is also useful in this regard, which is carried out in the 11th and 14th weeks of pregnancy.

Amniocentesis eliminates suspicion

If the results do not fall within the normal values, do not panic. This does not necessarily mean that your baby has a malformation, it just poses a risk. To detect possible anomalies, the triple test must be accompanied by chromosomal analysis and additional ultrasounds. To almost completely eliminate suspicions related to Down’s syndrome, amniocentesis can be performed, which consists in collecting amniotic fluid. It is performed during the 16th and 18th weeks of pregnancy.

Apart from Down syndrome, amniocentesis can also signal the presence of Patau syndrome (a disease that causes physical and mental disabilities) and Edward syndrome. It is good to know from the start that amniocentesis can be accompanied by some risks, such as uterine contractions, bleeding, infections or even pregnancy loss. That is why the doctor will ask for your written consent before performing the analysis. When the amniocentesis shows the presence of a genetic disease in the fetus, the mother has the option of resorting to abortion.

What is the role of ultrasound

In the 16th and 24th weeks of pregnancy, you can also do a Doppler ultrasound, which measures the blood flow and certain organs of the fetus (brain, liver, heart). 3D or 4D ultrasounds allow the analysis of the baby’s organs, but also the visualization of the face, limbs, movements and gestures.