Trisomy 21, 18, and 13 in the foetus

For these three syndromes (trisomy 21 - Down's Syndrome - trisomy 18 and trisomy 13), you may also choose to undergo NIPT screening during your pregnancy. The chance of having one of these three conditions increases with the age of the pregnant woman.

How often is this abnormality found?

In 1 out of every 700 births in Belgium.

What is the possible impact on your baby's health?

• Approximately half of these children have a heart defect, which usually requires surgical intervention.
• Some children have a congenital defect with the oesophagus, the duodenum or anus.
• There is an increased chance of thyroid problems, infections and leukaemia.
• There may be mental limitations ranging from mild to severe. There is quite a lot of variation in what people are able to achieve.
  It depends on their aptitude and the possibilities that they have access to.
• Parents’ experience of having a baby with Down's Syndrome varies enormously. Many parents are very happy with their child.

What is the life expectancy?

• Approximately 55 years old

How can you test for this condition?

• 12-week ultrasound:
  • In the case of a thickened nuchal fold: no testing with NIPT is performed. Either chorionic villus sampling or an amniocentesis is indicated.
  • For a normal nuchal fold: testing with NIPT
    
• Does the NIPT show an increased risk for this syndrome? In that case, an amniocentesis is necessary to either confirm the NIPT result or to rule out the condition.

Do you need to explicitly select this test on the informed consent form?

No. If you decide to do NIPT, then testing for this syndrome is standard.

What if you want to end the pregnancy?

The ethical committee will be required to meet.

More information?

www.downsyndroom.eu and www.downsyndroom.nl

How often is this abnormality found?

In 1 out of every 8,500 births in Belgium.

What is the possible impact on your baby's health?

• These babies have a very low birthweight. There is often delayed growth that is measureable early on in the pregnancy, sometimes even before 18 weeks.
• There is an increased risk for a number of congenital defects, especially heart, kidney and brain abnormalities, as well as for open abdomen and/or back abnormalities.

What is the life expectancy?

• The life expectancy is very low. 50% die before the second month of life, 90% die within the first year.
• The babies who do survive have very serious developmental delays in all areas.
• There is also an increased risk of death during the pregnancy.

How can you test for this condition?

• 12-week ultrasound:
  • In the case of a thickened nuchal fold: no testing with NIPT is performed. Either chorionic villus sampling or an amniocentesis is indicated.
  • For a normal nuchal fold: testing with NIPT
• Does the NIPT show an increased risk for this syndrome? In that case, an amniocentesis is necessary to either confirm the NIPT result or to rule out the condition.

Do you need to explicitly select this test on the informed consent form?

No. If you decide to do NIPT, then testing for this syndrome is standard.

What if you want to end the pregnancy?

The ethical committee will not be required to meet.

How often is this abnormality found?

In 1 out of every 10,000 births in Belgium.

What is the possible impact on your baby's health?

• With an average birth weight of 2,600 grams at 40 weeks of pregnancy, these children fall just within the range of normal values.
• There is an increased risk for a number of congenital defects, especially heart, kidney and brain abnormalities, as well as for open abdomen and/or back abnormalities. There are often open lip and palate abnormalities, skin problems on the back of the head and extra pinkie fingers and/or toes.

What is the life expectancy?

• The life expectancy is very short. Approximately 95% of these babies die within six months of life. The average life expectancy is 2.5 days.
• The babies who do survive have very serious developmental delays in all areas.
• There is also an increased risk of death during the pregnancy.

How can you test for this condition?

• 12-week ultrasound:
  • In the case of a thickened nuchal fold: no testing with NIPT is performed. Either chorionic villus sampling or an amniocentesis is indicated.
  • For a normal nuchal fold: testing with NIPT
• Does the NIPT show an increased risk for this syndrome? In that case, an amniocentesis is necessary to either confirm the NIPT result or to rule out the condition.

Do you need to explicitly select this test on the informed consent form?

No. If you decide to do NIPT, then testing for this syndrome is standard.

What if you want to end the pregnancy?

The ethical committee will not be required to meet.

It is possible for the NIPT to provide a false result. An abnormal result can be confirmed with an amniocentesis in order to be 100% certain.

Latest publication date: 23/12/2024