How to detect Down’s syndrome during pregnancy?

The first few months of pregnancy are filled with a lot of excitement but also many concerns. Mothers-to-be want to make sure that the foetus develops in the correct way, which can now be achieved thanks to gynaecological advances which allow the growth of the unborn baby to be monitored every step of the way.

These advances also make it possible to diagnose alterations in the foetus at an early stage, thereby reducing the anxiety of parents-to-be. This is the case in the detection of Down’s syndrome, an alteration whose diagnosis may involve tests from the very first trimester of the pregnancy.

Doctors can perform several prenatal tests to detect Down’s syndrome throughout the pregnancy. Not all are as reliable as each other, and some carry a particular degree of risk for the future mother and baby. That is why it is important to be aware of all the alternatives in order to make a free choice.

Screening is the first step in detecting Down’s syndrome

During the first trimester of pregnancy doctors are able to screen the future mother; this consists of a blood test and an ultrasound of the baby. This allows experts to determine the risk of Down’s syndrome.

With these tests, doctors are able to calculate the likelihood that the foetus will develop this abnormality, although it should be noted that, at this stage of the pregnancy the conclusions are not absolute.

Amniocentesis is an accurate test

The mother-to-be can undergo a more reliable test to detect Down’s syndrome during pregnancy, known as amniocentesis. This test involves extracting a small sample of amniotic fluid surrounding the foetus.

This fluid contains the information needed to check for the presence of genetic alterations. Although the results of this test are considered to be extremely accurate, it should be taken into account that this is an invasive test and therefore entails particular risks, as it involves the insertion of a needle which penetrates up to the uterus. That is why the pregnant woman may suffer some abdominal pain, bleeding or loss of amniotic fluid and irritation in the puncture area.

The non-invasive prenatal test: a safe alternative

Amniocentesis is a very reliable test, but it is not the only option available for the detection of Down’s syndrome during pregnancy. As of week 10 of pregnancy, the pregnant woman can undergo a non-invasive prenatal test such as the NACE test. These tests can detect Down’s syndrome through a single blood sample, as particular genetic information of the baby also runs through the mother’s blood supply.

Non-invasive prenatal tests to detect Down’s syndrome mean that it is not necessary to extract a sample from the uterus, and thereby prevent any risks that could even result in a miscarriage. As well as being reliable, they can be performed even before the amniocentesis, a test which cannot be performed until week 15 of the pregnancy, and the results will be available in just 72 hours.