The UK NSC recommendation on Fetal anomaly screening in pregnancy
||Systematic population screening programme recommended
|Last review completed
|Next review due in
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 screening for down's syndrome, Edwards' Syndrome and Patau's Syndrome 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 scientific 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 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.
• Antenatal Results and Choices
• 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
• Contact a Family
• 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
• Miscarriage Association
• PHG Foundation
• Restricted Growth Foundation
• Royal College of General Practitioners
• Royal College of Midwives
• Royal College of Obstetricians and Gynaecologists
• 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
More information for stakeholders can be found in appendix C of the UK NSC evidence review process.
cfDNA screening in pregnancy consultation comments redacted (PDF document, 1.50MB, 15/01/16)
cfDNA screening in pregnancy cover sheet (PDF document, 568KB, 15/01/16)
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