Screening for Down, Edwards and Patau syndromes during pregnancy
Screening for Down, Edwards, and Patau Syndromes During Pregnancy
Norfolk and Norwich University Hospital provides antenatal and newborn screening tests recommended by the UK National Screening Committee, in line with NHS England standards.
The Norfolk and Norwich University Hospital offers screening for Down’s syndrome, Edwards syndrome, and Patau syndrome to all pregnant women. The test type provided will depend on how many weeks pregnant you are found to be at your dating scan.
- Combined test: 11+2 to 14+1 weeks of pregnancy
- Quadruple test: 14+2 to 20+0 weeks of pregnancy
If you are found to be over 20 weeks pregnant at your dating scan, there is no routine screening test available. However, if anything unusual is seen during your scan the sonographer will discuss this with you and refer you to a specialist if needed.
Before your booking appointment
We recommend reading the NHS booklet: Screening tests for you and your baby.
The booklet is also available in: Arabic, Punjabi, Bengali, Chinese, French, Latvian, Lithuanian, Polish, Portuguese, Romanian, Somali, and Urdu, as well as an Easy Read version.
What is a screening test?
Screening tests help find out whether someone has a higher or lower chance of having a health condition. They can:
- Identify conditions earlier
- Help plan care or treatment
- Support decision-making
Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome cannot say for certain whether your baby has the condition. It tells you if your baby has a lower or higher chance of having the condition.
Screening for Down’s Syndrome, Edward’s Syndrome and Patau’s Syndrome are not diagnostic. Sometimes a screening test can:
- return a higher chance result, but the condition is not present (false positive)
- return a lower chance result, but the condition is present (false negative)
If your baby has a higher chance of a condition, you’ll be offered a diagnostic test that gives a more definite “yes” or “no” answer.
Screening for Down’s, Edwards’, and Patau’s syndromes
This screening is usually offered at your dating scan, between 11+2 and 14+1 weeks of pregnancy.
As part of this screening:
- A measurement is taken at the back of your baby’s neck (nuchal translucency)
- This is combined with a blood test
Together, these form the Combined Test.
Your community midwife will discuss this test at your booking appointment, and the request form will be ready to collect at the Antenatal Clinic on the day of your scan. After the scan, you will need to attend the nearby phlebotomy clinic for your blood test on the same day.
If your baby’s position prevents a neck measurement or your pregnancy is over 14+1 day, you will be offered a Quadruple Test, usually performed at your 16-week midwife appointment. This only screens for Down’s syndrome. Screening for Edwards’ and Patau’s syndromes will be offered at the Fetal Anomaly Scan between 18+0 and 20+6 weeks.
Previous pregnancy with Down’s, Edwards’, or Patau’s syndrome
If you have had a pregnancy where full Down’s, Edwards’, or Patau’s syndrome was identified, inform your community midwife at your booking appointment or contact the Antenatal and Newborn Screening Specialist Midwives. You may be eligible for the Non-Invasive Prenatal Test (NIPT). Contact details are at the end of this page.
If your result shows a higher chance
Sometimes screening shows a higher chance of Down’s, Edwards’, or Patau’s syndrome.
If this happens:
- A specialist midwife will contact you by phone to discuss your result
- You can talk through what the result means, further tests available, and any questions or concerns
You will be offered further testing:
- Non-Invasive Prenatal Testing (NIPT)
- Diagnostic tests such as amniocentesis or chorionic villus sampling (CVS)
- You may also choose to decline further tests
In some cases, you may be referred to another hospital for further investigations or to see specialist teams.
If your result shows a lower chance
You will receive a letter from the laboratory 10–14 days after the test. If you do not receive your result, please contact your community midwife.
Risks of screening
Screening tests themselves do not harm you or your baby.
However:
- Results may lead to decisions about further tests
- Some diagnostic tests carry a small risk of miscarriage
- If a condition is confirmed, you may face decisions about continuing or ending the pregnancy
All decisions are entirely your choice, and healthcare professionals will support you whatever you decide.
Will screening give a definite answer?
No. Screening tests indicate whether there is a higher or lower chance of a condition.
If a higher chance is found, you may be offered a diagnostic test, which can give a definite answer.
Is screening mandatory?
No. Screening is optional.
You can choose whether to have any of the screening tests offered. Your midwife or doctor can help you understand each test and decide what is right for you.
Other Things the Screening Tests May Show
- Combined test may reveal a low PAPP-A hormone. Low levels do not mean your baby has a syndrome, but sometimes the baby may grow more slowly. If this happens, you will be contacted and offered extra scans to check growth.
- Quadruple test may reveal a raised AFP hormone. High levels may indicate a condition such as Spina Bifida. You will be offered an ultrasound scan to check the baby in detail. Most babies with raised hormone levels are healthy.
Support
You may find it helpful to contact Antenatal Results and Choices (ARC).
They provide information and support for parents whose baby may have, or does have, a condition.
- Telephone: 020 7713 7486
- Text: 07908 683004 (UK only)
- Email: info@arc-uk.org
- Monday to Friday, 10am to 5.30pm
Confidentiality
Everyone working in or for the NHS must keep your information private and secure.
- Screening information is only shared with healthcare staff involved in your care.
- Sometimes, anonymous information is used for audit or research to improve services. You will be informed about this when you are screened.
Location and contact details
Fetal Medicine Unit
Norfolk and Norwich University Hospital
Colney Lane, Norwich, NR4 7UY
Antenatal and Newborn Screening Team
Email: antenatal.newbornscreening@nnuh.nhs.uk
Phone: 01603 287949
Leaflets
Screening for Down, Edwards and Patau syndromes
Screening tests for you and your baby in other languages
Non-Invasive-Prenatal-Testing-NIPT24559.1.docx