The UK NSC recommendation on Fetal anomaly 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 should be reviewed regularly. The process for this is currently being revised, which is why this topic does not currently have a review date. The new process will be published in due course. 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. Further evaluative work will be undertaken, with input from scientific and ethical expertise, to better understand:

 

a. what would need to be answered before full implementation, and approach to addressing these issues

 

b. the practical impact to the screening programme if implemented after the following test outcomes:

 

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

 

That the evaluative work be based on a pathway to test the idea that women could have the option of cfDNA testing or invasive testing following a high risk result, (see appendix D for pathway options and rationale for option a)

 

And that the evaluative work should be informed by work on ethics and NIPT currently being initiated by the Nuffield Council

 

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
  • a recommendation therefore been made to implement the test as part of an evaluation process to understand these issues better before making a decision to fully roll out. The exact specifications of the evaluation are currently being developed
  • the results of the evaluation will need to be further reviewed by the UK NSC in future before any further recommendations can be made
  • 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
  • a recommendation therefore been made to implement the test as part of an evaluation process to understand these issues better before making a decision to fully roll out. The exact specifications of the evaluation are currently being developed
  • the results of the evaluation will need to be further reviewed by the UK NSC in future before any further recommendations can be made

More about Fetal anomalies

Around 700,000 women get pregnant in the UK every year. Over 95% of these pregnancies result in the birth of a healthy baby. However, in a few cases, there are problems affecting the baby's development. The screening tests offered in pregnancy are either ultrasound scans or blood tests or a combination of both. They are used to check for specific physical abnormalities and conditions. The screening tests are not guaranteed to find all problems.

» Read more about fetal anomaly screening on NHS Choices

Screening in the UK

Compare how screening is offered across the UK.

Stakeholders

Antenatal Results and Choices
BLISS
British Heart Foundation
British Maternal & Fetal Medicine Society
The British Medical Ultrasound Society
British Pregnancy Advice Service
CDH UK
Child Growth Foundation
Children's Heart Federation
CLAPA
Contact a Family
CRUSE
DIPex
Down Syndrome Education International
Down Syndrome Research Foundation UK
Down's Heart Group
Down's Syndrome Association
Down's syndrome Medical Interest Group
Downs Syndrome Scotland
Elfrida Society
Genetic Alliance UK
Little Hearts Matter
Marie Stopes International
MENCAP
Miscarriage Association
PHG Foundation
Restricted Growth Foundation
Royal College of General Practitioners
Royal College of Midwives
Royal College of Obstetricians and Gynaecologists
SANDS
Saving Down Syndrome
SHINE Charity
Society and College of Radiographers
Tiny Tickers
Together for Short Lives
Wolfson Institute of Preventive Medicine

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 redacted (PDF document, 1.50MB, 15/01/16)
icon cfDNA screening in pregnancy cover sheet (PDF document, 568KB, 15/01/16)

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