The UK NSC recommendation on Down's syndrome screening in pregnancy

 
Recommendation Systematic population screening programme recommended
Last review completed January 2016
Next review due in 2018/19
 
Key downloads
 

Find general information about population health screening.

Why is screening recommended by UK NSC?

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

More about Down's syndrome

Down's syndrome is a inherited disorder. It occurs when a person has an extra copy, or partial copy, of chromosome 21, instead of the normal 2 copies. Babies with Down's syndrome are born with specific physical features and a wide range of cognitive disabilities. They are more likely to suffer ear and eye defects, infections and heart defects.

» Read more about Down's syndrome on NHS UK

Screening in the UK

Compare how screening is offered across the UK.

Stakeholders

Down Syndrome Research Foundation UK
Down's Heart Group
Down's Syndrome Association
Down's syndrome Medical Interest Group
Downs Syndrome Scotland
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

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

Related documents

icon Evidence summary- Down's syndrome (2015) (PDF document, 4.42MB, 06/05/20)
icon UK NSC coversheet & consultation responses- Down's Syndrome (2015) (PDF document, 1.86MB, 06/05/20)

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