Overview

If your first screen has shown that your baby has a higher-chance of having Down’s syndrome or Edwards’ syndrome or Patau’s syndrome, this doesn't mean your baby definitely has one of the conditions.

Your choices are to have:

  • no further tests
  • a further screening test (non-invasive prenatal testing, known as NIPT)
  • a diagnostic test (chorionic villus sampling (CVS) or amniocentesis)

Your choices

Further testing can give you more accurate information about how likely it is your baby may have Down’s syndrome or Edwards’ syndrome or Patau’s syndrome.

People choose to have further tests or not for lots of different reasons and your choices will be personal. You do not need to make any decisions straight away.

No one will ever test you without being sure you know what the test is for, how it’s done, and that you’re prepared to have it.

Your midwife will respect your choices whether you choose to have more tests or not and will keep your choices private.

They’ll look after you and your baby and will tell you about support organisations that can help you and give you further information and support following a NIPT high-chance result.

NIPT explained

NIPT is a more accurate blood test offered to women who are carrying a baby identified as being at a higher-chance of having either Down’s syndrome, Edwards’ syndrome or Patau’s syndrome from previous screening tests.

No screening test is 100% accurate, so NIPT cannot tell for definite if your baby has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.

NIPT is safe

NIPT is completely safe and will not harm you or your baby.

You’ll be offered the same screening choices if you’re pregnant with twins as you would be if you were pregnant with one baby.

NIPT will give results about all three conditions. You cannot choose to be screened for Down’s syndrome only or Edwards’ syndrome and Patau’s syndrome only, like in earlier screening.

How NIPT works

NIPT will give results about the chance of your baby having either Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. You cannot choose to be screened for Down’s syndrome only or Edwards’ syndrome and Patau’s syndrome only, like in earlier screening.

During pregnancy the placenta releases some of its DNA into your bloodstream, so your blood has both your DNA and some from the placenta.

This is what NIPT measures.

If NIPT finds more DNA than expected for chromosomes 21, 18 or 13 in your blood it could mean that your baby has Down’s syndrome, Edward’s syndrome or Patau’s syndrome.

NIPT will not be used to find other health conditions or the gender of your baby, as part of NHS Scotland’s pregnancy screening programme.

Should I have NIPT?

If you don’t want to go straight to having a diagnostic test, your NIPT result may help you to decide whether to have one or not. It can also help you prepare for the arrival of a baby who may need additional care and support.

NIPT is not suitable for everyone

Your midwife will explain to you if there’s a reason you cannot have NIPT, for example if you’ve had a recent blood transfusion, cancer or have a condition that involves chromosomes 21, 18 or 13.

What result could I get?

Low-chance result

Most women who have NIPT will receive a low-chance result. This means it’s unlikely your baby has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. If you get this result, you’ll not be offered any further tests for these conditions.

There is a small chance that you may receive a low-chance result and your baby does have one of the conditions. This is known as a false negative.

High-chance result

If you get a high-chance NIPT result, it does not mean your baby definitely has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome but it’s very likely.

You’ll be offered diagnostic testing which can tell you for definite. Whatever you choose, health professionals will give you information and support.

There is a small chance that you may receive a high-chance result and your baby does not have one of the conditions. This is known as a false positive.

No result

NIPT can sometimes give no result if there’s not enough DNA in the blood sample or if there’s been a technical issue with the testing.

If you don’t get a result you can choose to have a repeat NIPT, go straight to diagnostic testing or have no further tests.

How accurate is NIPT?

If you get a high-chance result that your baby has one of the conditions, this will be confirmed in your baby:

  • 91 times out of 100 for Down’s syndrome
  • 84 times out of 100 for Edwards’ syndrome
  • 87 times out of 100 for Patau’s syndrome

Research shows that NIPT is better at finding babies who have Down’s syndrome than finding babies with Edwards’ syndrome or Patau’s syndrome.

This may be because babies with Edwards’ syndrome or Patau’s syndrome are likely to be smaller and have smaller placentas.

This may mean less DNA from the placenta can be found in your bloodstream.

NIPT is more accurate for women, who’ve already had a higher chance result from their first screening test.

However, no screening test is 100% accurate.

Twin pregnancies

NIPT can be as accurate in identical twin pregnancies as if you were pregnant with one baby.

NIPT may be less accurate in non-identical twin pregnancies because there are two placentas releasing their own DNA.

It may not be possible to know what type of twin pregnancy you’re having.

Further information and support following a NIPT high-chance result

Your midwife will tell you which support organisations can give you more information about living with the condition your baby has, or is very likely to have.

Your midwife will also offer to refer you to a specialist team which includes specialist doctors, midwives and other health professionals.

The team may be in another hospital. Your midwife will help you to understand who the specialists are and what they do.

If you need to choose what to do next, support organisations and health professionals can answer any questions you have and support you in reaching decisions that feel best for you and your baby.

Whether you choose to continue with your pregnancy or not, your choices will be respected and you’ll get the care and support you need.

You can contact:

Down’s Syndrome Scotland

Down’s Syndrome Scotland is the only charity in Scotland dedicated to supporting people with Down’s syndrome and their parents, carers and families.

Phone: 0300 030 2121

SOFT UK

SOFT UK supports families affected by Patau’s syndrome, Edwards’ syndrome or related disorders.

Antenatal Results and Choices (ARC)

ARC offers non-directive individualised information and support to parents who are making decisions around antenatal testing and whether to continue pregnancy or end pregnancy.

Phone: 0845 077 2290 or 0207 713 7486 from a mobile.

Pregnancy screening leaflets

Public Health Scotland has produced a leaflet for expectant parents and their families who have been given a result that their baby has a higher-chance of having either Down’s syndrome, Edwards’ syndrome or Patau’s syndrome from their first line screening tests.

Information about NIPT

Following UK National Screening Committee recommendations, NHS Scotland has rolled out NIPT for an evaluation period of at least three years.

During this time, NHS Scotland will collect information to check how well NIPT performs in a higher-chance population.

This means people who’ve already had a higher-chance result from their first screening test. They will use this information to contribute to a UK-wide report.

What happens to my information after screening?

Your personal health information will be kept private, which means it’s only shared with other staff involved in your care. Processes are reviewed regularly to make sure you’re offered the best service possible.

You have rights in relation to the access and the use of your personal health information.

More information on confidentiality and data protection.