NIPT
The NIPT (Non-Invasive Prenatal Test) is a blood test performed on the pregnant woman. It examines DNA present in the mother's blood, originating from both the placenta and the mother herself. The DNA from the placenta is almost always the same as the baby's DNA. The laboratory analyzes this DNA for chromosomal abnormalities and can determine whether the baby may have Down syndrome, Edwards syndrome, or Patau syndrome. The NIPT can be done from 10 weeks of pregnancy.
Incidental Findings with the NIPT
Recently, the procedure for the NIPT in the Netherlands has changed: you can no longer choose whether or not to receive information about incidental findings. If the laboratory detects other chromosomal abnormalities besides Down, Edwards, or Patau syndrome, these findings are now automatically included in the results. These may concern abnormalities in the baby, the placenta, or – in very rare cases – in the pregnant woman herself.
The severity of incidental findings can vary, ranging from serious to less serious. To fully understand the nature and implications of such findings, follow-up testing is usually required – typically through an amniocentesis or chorionic villus sampling (CVS). Out of every 1,000 pregnant women who undergo the NIPT, approximately 4 are informed of an incidental finding.
THE RESULT OF THE NIPT
“THE RESULT IS LOW PROBABILITY.”
This result is almost always correct. The chance is very small that you are pregnant with a child with Down, Edwards or Patau syndrome. So, you don't need any further research.
“YOU HAVE A HIGH PROBABILITY RESULT AND MAY BE PREGNANT WITH A CHILD WITH DOWN, EDWARDS OR PATAUS SYNDROME.”
What does this result say? Here are some examples:
- In 90 out of 100 women who get the result that they may be pregnant with a child with Down syndrome, this is indeed true; So 10 women are not pregnant with a child with Down syndrome.
- In 90 out of 100 women who get the result that they may be pregnant with a child with Edwards syndrome, this is indeed true; 10 women are therefore not pregnant with a child with Edwards syndrome .
- In 50 out of 100 women who get the result that they may be pregnant with a child with Patau syndrome, this is indeed true; 50 women are therefore not pregnant with a child with Patau syndrome.
If the result indicates a high probability, there is still a chance that the child does not have the condition. You only get certainty by having a chorionic villus sampling or amniocentesis done. Are you thinking about terminating the pregnancy? Follow-up research is then required to obtain certainty.
“A SUBSEQUENT FINDING HAS BEEN FOUND.”
You will receive an explanation about what has been found and what this may mean for your child or yourself. You will receive an invitation for an interview at a clinical genetics outpatient clinic of a university hospital. In that meeting you will receive more information about the incidental finding and what the options are. Further research is needed to be sure.
FOLLOW-UP EXAMINATION AFTER THE NIPT
If you have had a high-probability result on the NIPT, you can opt for a follow-up test. The follow-up examination consists of chorionic villus sampling or amniocentesis.
COST
There are no costs associated with the NIPT.
More information: Website RIVM
