antenatal screening programme

Subscribe to alerts on this topic

Patau's syndrome

Patau’s syndrome (Trisomy 13 or T13) is a rare condition which occurs in 2 in every 10,000 births. Babies with Patau’s syndrome have an extra copy of chromosome number 13 in some or all of their cells.

Sadly, survival rates are low and of those babies born alive only around 11% with Patau’s syndrome will live past their first birthday. Some babies may survive to adulthood but this is rare.

All babies born with Patau’s 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 Patau’s 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.

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 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 a diagnostic test.

If it is not possible to obtain a nuchal translucency measurement from the combined test, then the pregnant woman is offered screening for Patau’s 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 Patau’s syndrome as part of the fetal anomaly screening pathway in England.

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.

Coversheet
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.

Find out more about screening programmes across 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 Patau's 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.