Screening in Pregnancy

Screening in Pregnancy

During your pregnancy, you will be offered screening tests to see whether you or your baby may have a higher chance of certain health conditions.

Screening for you

  • Infectious diseases
  • Inherited conditions (such as sickle cell disease)

Screening for your baby

  • Chromosomal conditions such as Down’s syndrome, Edwards’ syndrome and Patau’s syndrome
  • Physical differences (such as spina bifida or cleft palate)

Screening tests help you make informed choices about your care during pregnancy and after your baby is born.

Norfolk and Norwich University Hospital provides all antenatal and newborn screening tests recommended by the UK National Screening Committee, in line with NHS England standards.

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 are screening tests?

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

Will screening tests give me a definite answer?

This depends on what the screening tests are looking for.

Yes

Screening tests for HIV, hepatitis B and syphilis infections are very accurate, and will tell for certain whether you have one of these infections.

If the test is positive, you’ll be offered further tests and examinations by specialist doctors to find out the treatment you need.

No

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. Screening tests can sometimes:

  • 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 tests for sickle cell and thalassaemia will tell you for certain whether you’re a carrier or have these conditions. They will not tell you whether or not your baby has the condition. If you or the baby’s father is a carrier or has the condition, you’ll be offered diagnostic tests to find out if your baby is affected.

Screening tests during pregnancy

Screening tests offered during pregnancy include:

  • Ultrasound scans – may identify physical differences, such as spina bifida
  • Blood tests – can help assess the chance of inherited conditions, such as sickle cell anaemia
  • Combined tests – some blood tests are used together with scans to screen for Down’s, Edwards’, and Patau’s syndromes

Screening for hepatitis B, HIV and syphilis

A blood test will be offered for HIV, hepatitis B and syphilis at your first midwife appointment. This is part of routine antenatal screening, which is recommended for every pregnancy.

The blood test needs to be done as early as possible in pregnancy, ideally by 10 weeks. This is so treatment can be started early, if you need it, to reduce the risk of passing the infection on to your baby.

If you already know you have HIV or hepatitis B, you’ll need early specialist appointments to plan your care in pregnancy.

If your partner has HIV, hepatitis B or syphilis, tell your midwife as soon as possible.

Hepatitis B, HIV and syphilis can all be passed to your baby during pregnancy and birth.

For more information please visit: Screening for hepatitis B, HIV and syphilis – NHS

Screening for Sickle cell disease (SCD), thalassaemia and other haemoglobin variants

Sickle cell disease (SCD) and thalassaemia are inherited blood disorders. If you are a carrier of the sickle cell or thalassaemia gene, you can pass these health conditions on to your baby. This test should be offered before you’re 10 weeks pregnant. It’s important the test is done early.

All pregnant women in England are offered a blood test to find out if they carry a gene for thalassaemia.

If you find out you’re a carrier, you and your partner will have the option of further tests to know if your baby will be affected.

For more information please visit: Screening for sickle cell and thalassaemia – NHS

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. The blood test must be taken at the hospital.

If your baby’s position prevents a neck measurement or your pregnancy is over 14+1 day, you will be offered a Quadruple Test instead. The Quadruple (also known as the Quad Test) is usually performed at your 16-week midwife appointment. The Quadruple Test screens for Down’s syndrome only. Screening for Edwards’ and Patau’s syndromes will be offered at the Fetal Anomaly Scan between 18+0 and 20+6 weeks.

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 working days after the screening 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.

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.

Screening for your baby after birth

Some screening tests are offered after birth, including:

  • Newborn physical examination
  • Newborn hearing screening
  • Newborn blood spot screening

For more information please visit: Newborn screening – NHS

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

Non-Invasive-Prenatal-Testing-NIPT-R44524560.1.docx

CVS

Amniocentesis