Questions to ask when having NIPT in the private sector

Things to think about when considering whether to have NIPT/cfDNA prenatal screening in the private sector

Which conditions do I want NIPT for?

There are now a number of biotech companies and laboratories offering NIPT in the UK. While all will include a screening result for Downs syndrome, Edwards’ syndrome and Patau’s syndrome (also known as trisomies), many will also screen for sex chromosome anomalies (e.g. Turner’s syndrome, Triple X etc.). Some tests include results for other genetic conditions that are the result of a deletion or duplication of genetic material on a chromosome.

There is now enough good evidence to make us confident that NIPT is the most accurate screening test we have for Downs syndrome, Edwards’ syndrome and Patau’s syndrome. However, there is less in the literature about other conditions. So we suggest restricting use of NIPT to the main trisomies, unless advised otherwise by your genetics specialist.

While most parents will be reassured by their NIPT result, a small number will be told that it is likely that their baby has one of the conditions. Before you have any testing, you might want to think about what you know about the conditions and how you might feel about getting news that your baby is likely to have one of them.

You can find more information on these websites

• NHS Choices
• Down’s syndrome
• Edwards’ syndrome and Patau’s syndrome

How much will it cost?

At the time of writing this, costs for NIPT for the trisomies seem to range from around £350 to £550. The cost should include a scan along with the blood test as it is important you have a scan before NIPT.

What should I ask the NIPT provider?

Private sector NIPT providers may have information on their website about which of the tests they offer so it can be helpful to read that as it may help you decide on the questions you want to ask. Your questions might include:

• How long will I wait for a result? 

The ‘turnaround time’ for your NIPT result will depend partly on which laboratory your blood sample is sent to. Most testing now is done in UK-based labs, but one or two companies send the sample to laboratories abroad. So the wait can range from 3 to 10 days. Double-check whether the time they quote is in ‘working’ or ‘calendar’ days as some laboratories are open at weekends.

• How will I be given my result? 

You may want to decide how you want to receive your result. Do you want to call the clinic, or should they call you? Would you prefer to go in and get your result in person? Do you want them to email or text you?

• What will the result say?

Different test providers have slightly different ways of reporting the results. Ask exactly what you will be told. The result should always make it clear that no NIPT result means it is absolutely certain that your baby has or doesn’t have a condition. You should be given a copy of the laboratory report and someone should be able to talk you through the report and answer any questions you have. In a small number of cases they will not be able to get a result. You might want to check what percentage of women who have the NIPT test you are considering fall into this category. Also make sure that they will give you a second test or ‘redraw’ if they cannot get a result first time. If this second test comes back with an inconclusive result, it is important to seek expert advice, so check with the clinic how this will be arranged.

• What happens if I get a ‘positive’ result?

If your NIPT says that there is a high chance your baby has Down’s syndrome or one of the other trisomies, check that the clinic you are considering has a pathway in place if this happens. Some clinics may offer invasive diagnostic testing, but most will have to signpost you back to the NHS for this. Ask what links they have with NHS hospitals and how they can help you access NHS services. It is important that they have established these contacts and don’t just insist their responsibility ends once they have given you your NIPT result.