antenatal screening programme
Down’s syndrome is caused by an extra copy of chromosome 21 in all or some cells of the body. A person with Down’s syndrome will have some level of learning disability. This means they will find it harder than most people to understand and to learn new things. They may have communication challenges and difficulty managing some everyday tasks. People with Down’s syndrome have distinctive facial features but they do not all look the same.
Read more about Down's syndrome on the NHS website.
UK NSC screening recommendation
Following the review of cfDNA (also known as NIPT) screening in pregnancy, an evaluation was recommended into its introduction because:
- an invasive diagnostic test carries a small risk of miscarriage. The evidence suggests that NIPT will reduce the number of women being offered an invasive test
- however, while we know that the accuracy of NIPT is very good, we don’t yet know how it will perform in an NHS screening programme pathway
- for women who choose to have NIPT, this will add in an extra step in the screening programme. The impact of this, and the choices women make at different points in the pathway, is something that we hope to gain a better understanding of through further research and evaluation
The UK NSC has recommended evaluating the introduction of non-invasive prenatal testing (NIPT) to Down's syndrome screening. This will include scientific, ethical and user input to better understand the impact on women, their partners and the screening programme around the offer of cfDNA or invasive testing following a screening test result where:
i. the screening test risk score for trisomy 21 (T21) is greater than or equal to 1 in 150
ii. the combined test risk score for trisomy 18 (T18) and trisomy 13 (T13) is greater than or equal to 1 in 150
Supporting documents from the 2016 review
Evidence summary Downs Syndrome (2019)
This document provides the evidence on which the current UK NSC recommendation is based.
UK NSC coversheet Downs Syndrome (2019)
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.
Date previous review completed: 2016
Next review estimated to be completed: 2021 to 2022.
To see previous evidence reviews, visit the UK NSC archive.
Organisations interested in Down's syndrome
These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.
List of organisations
- Down's Heart Group
- Down's Syndrome Association
- Down's syndrome Medical Interest Group
- Downs Syndrome Scotland
- Down Syndrome Research Foundation UK
- Faculty of Public Health
- Royal College of General Practitioners
- Royal College of Midwives
- Royal College of Obstetricians and Gynaecologists
- Royal College of Physicians
- Royal College of Physicians and Surgeons of Glasgow
- Royal College of Physicians of Edinburgh
- Saving Down Syndrome
- Society and College of Radiographers