antenatal screening programme

Edwards' syndrome

Edwards’ syndrome (Trisomy 18) is a rare condition which occurs in 3 in every 10,000 births. Babies with Edwards’ syndrome have an extra copy of chromosome 18 in all or some cells.

Sadly, survival rates are low and of those babies born alive only around 13% with Edwards’ syndrome will live past their first birthday. Some babies may survive to adulthood but this is rare.

All babies born with Edwards’ syndrome will have a learning disability and a wide range of physical challenges, which can be extremely serious.

The chance of having a baby with the syndrome increases with the mother’s age.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in January 2016.

Screening for this condition is recommended.

The UK NSC endorses the offer of antenatal screening for Edwards’ syndrome as part of the following NHS fetal anomaly screening pathway:

A combined screening test is offered to all pregnant women in the first trimester between 10⁺⁰ and 14⁺¹ weeks of pregnancy. The combined test combines a blood test with an ultrasound scan which measures the fluid at the back of the baby’s neck to determine the ‘nuchal translucency’ (NT). The result of this test indicates whether the baby has a lower or higher chance of having the condition.

The quadruple screening test is offered for Edwards’ syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. The quadruple test uses maternal age and 4 biochemical markers to calculate the chance of the baby having the condition. The test is offered between 14+2 and 20+0 weeks of pregnancy to those who miss, or do not complete, the combined test. See Addition of quadruple test to Edwards' syndrome screening pathway consultation.

Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. NIPT gives a more accurate screening result than the combined test and can help parents decide whether to then have an invasive diagnostic test.

If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards’ syndrome at the detailed 20-week ultrasound scan.

Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests.

Find out more about screening for Edwards’ syndrome as part of the fetal anomaly screening pathway.

Supporting documents from the 2016 review

Evidence summary T18 and T13 (2015)
This document provides the evidence on which the current UK NSC recommendation is based.

This document summarises the review process including the public consultation comments.

Screening around the UK

The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.

Review cycle

Date previous review completed: 2016

Next review estimated to be completed: 2027 to 2028.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in Edwards' syndrome

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

If you think your organisation should be added, please contact us.