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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
 

Evidence to support continuation or cessation of existing screening programmes is reviewed regularly. Each programme has an active portfolio of research, evidence and audit to support continual improvement. Find out more about down's syndrome screening, as part of the fetal anomaly screening programme in England.


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

 

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

More about Down's syndrome

Down's syndrome (or 'Down syndrome'), a chromosomal disorder, occurs when, instead of the normal complement of two copies of chromosome 21, there is a whole, or sometimes part of an, additional chromosome 21.

Chromosome abnormalities give rise to specific physical features seen in Down's syndrome. The range of cognitive disabilities as well as other attributes is enormously wide in Down's syndrome. The majority are in the mild range of cognitive ability. Associated defects may include ear and/or eye defects, an increased propensity for infections and heart defects.

» Read more about Down's syndrome on NHS Choices

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
Royal College of General Practitioners
Royal College of Midwives
Royal College of Obstetricians and Gynaecologists
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 cfDNA screening in pregnancy consultation comments (PDF document, 1.50MB, 14/01/16)
icon cfDNA screening in pregnancy cover sheet (PDF document, 568KB, 15/01/16)
icon Second trimester quadruple testing for T21 in twins (PDF document, 85KB, 16/07/14)

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