Screening Team

• Screening for Sickle Cell and Thalassaemia

  Sickle cell anaemia and thalassaemia are inherited disorders that can cause anaemia. All women booking to deliver their baby at WWL will be offered screening for these disorders with a blood test. If you are found to be a carrier of the disorder, your partner will also be offered a test as parents who are both carriers have a 1 in 4 chance of having a baby with serious anaemia.

• Infectious Diseases – HIV, Hepatitis B and Syphilis

  You will be advised to have screening blood tests to see whether you have had these infectious diseases in the past. This is because these infections can be passed to the baby during pregnancy or childbirth and you may not be aware that you have been infected. If any of them are positive there are measures that can be taken to prevent your baby becoming infected. There are also treatments that will help your own health.

• Dating Scan

  This scan is performed usually between 10 and 14 weeks to check your baby’s heartbeat, the number of babies and to calculate when your baby is due. Occasionally, a problem may be seen on the scan and if this is the case, an appropriate review appointment will be arranged with either the screening midwife or a consultant specialist.

• Structural (Anomaly) Scan

  This scan is performed usually between 18 weeks and 20 weeks plus 6 days to check whether your baby is developing normally or whether it has any obvious abnormality. If there is a problem seen on the scan, an appropriate review appointment will be arranged with either the screening midwife or a consultant specialist.

• Screening tests for Down’s, Edwards’ and Patau’s Syndrome

  Down’s syndrome is a chromosomal disorder that affects around 1 in 1000 pregnancies and happens when the baby has an extra copy of chromosome 21. Children with Down’s syndrome have learning problems and sometimes physical complications.
  
  You can read more about Down’s syndrome here: https://www.downs-syndrome.org.uk/
  
  Edwards’ syndrome is a chromosomal disorder that affects around 3 in 10,000 births and happens when the baby has an extra copy of chromosome 18.
  
  Patau’s syndrome is a chromosomal disorder that affects around 2 in 10,000 births and happens when the baby has an extra copy of chromosome 13.
  
  Both of these conditions are serious and babies with these conditions have a range of physical and learning problems. Sadly the survival rates are low and of those babies born alive only around 13% with Edwards’ syndrome and 11% with Patau’s syndrome will live past their first birthday. Some babies may survive to adulthood but this is rare.
  
  You can read more about Edward’s and Patau’s syndromes here: https://www.soft.org.uk/
  
  Screening for these conditions is optional and the choice whether to accept screening or not is a very personal one. You may choose not to have screening for these conditions at all if you prefer.

• Combined screening (Nuchal Translucency (NT) scan and a blood test)

  This is offered early in pregnancy between 11 weeks and 2 days and 14 weeks and 1 day. The test includes an NT scan which measures the amount of fluid at the back of your baby’s neck and a blood test which measures the level of two hormones in your blood. This information is combined with your age to estimate the chance of your baby having Down’s, Edwards’ and Patau’s syndrome. You can choose to have screening for Down’s syndrome alone, Edward’s and Patau’s syndromes only or for all 3 conditions.

• Quadruple test (blood test)

  This test is offered later in pregnancy between 14 weeks and 2 days and 20 weeks for those women who are too late for combined screening at their dating scan or for those where it was not possible to obtain the NT measurement. The test measures four hormones in your blood and combines this with your age to estimate the chance of your baby having Down’s syndrome. This test cannot give a result for Edward’s or Patau’s syndromes.
  
  These tests cannot tell you whether your baby definitely has Down’s, Edwards’ or Patau’s syndrome. They simply tell you whether you have a higher chance (defined as a chance higher than 1 in 150) or lower chance of having a baby with Down’s, Edwards’ or Patau’s syndrome.
  
  If the screening tests show that you are in the lower chance group you will usually receive a letter informing you of this within two to three weeks of the test.
  
  If the screening test shows that you are in the higher chance group, the options for management will be discussed with you. This will include the offer of a further test of an amniocentesis or Chorionic Villus Sampling (CVS) to find out if your baby has Down’s, Edwards’ or Patau’s syndrome or not (these are over 99% accurate). These tests both have a risk of miscarriage of 1%.

• Non-invasive prenatal testing (NIPT)

  This is a test developed in the private sector to screen for Down’s, Edward’s and Patau’s syndrome. The test can be performed at any stage after 10 weeks of pregnancy for all single and twin pregnancies. The test looks for the baby’s DNA in the mother’s blood stream. The screening test result shows if there is a low chance or high chance of your baby having Down’s, Edward’s or Patau’s syndrome more accurately. If the result shows a high chance this would still need to be confirmed by an invasive test such as amniocentesis to be absolutely certain.
  
  This test is not currently available under the NHS, however, Public Health England has recommended that NIPT should be offered to women with a higher chance result from screening as an optional extra test and is therefore due to be introduced into the NHS screening programmes sometime during 2020-21.
  
  A number of private clinic offer this service and the price varies from £350-£550. More information and a list of local centres who offer this screening can be obtained from Antenatal Results and Choices on 0845 077 2290 (https://www.arc-uk.org/)

• Examination of the newborn

  Within 72 hours of giving birth, you will be offered a top-to-toe physical examination for your baby. This will include 4 specific screening tests to find out whether your baby has a suspected problem with their eyes, heart, hips or, in boys, their testes which would benefit from early investigation and possible treatment. These are carried out by paediatricians or by midwives who have undergone an advanced qualification. A senior paediatrician will be available to review your baby if required.
  
  The screening tests are carried out again between 6 and 8 weeks of age as some conditions do not develop or become apparent until then.

• Newborn Hearing Screening Test

  One to two babies in every 1,000 are born with a permanent hearing loss in one or both ears. Most of these babies are born into families with no history of hearing loss.
  
  Permanent hearing loss can significantly affect a baby’s development. Finding out early can give these babies a better chance of developing speech and language skills. It will help babies make the most of relationships with their family and carers from an early age.
  
  The hearing screening test will be offered to you in hospital before discharge, or when you are at home, or you will be invited to attend a clinic appointment. Ideally, the test should be done in the first 4 to 5 weeks, but it can be done at up to 3 months of age.
   

• Diabetic Eye Screening

  If you are diabetic (type 1 or type 2) you will be offered screening to check for signs of diabetic retinopathy and other eye problems caused by diabetes and monitor the health of your eyes. You will be offered screening at, or soon after, your first antenatal clinic visit and also after 28 weeks of pregnancy. If early stages of retinopathy are found at the first screening, you will be offered another test between 16 and 20 weeks of pregnancy. If significant retinopathy is found at any screening, you will be referred to an eye specialist.
  
  Diabetic retinopathy is caused when diabetes affects the small blood vessels in the retina at the back of the eye. Everyone with diabetes is offered eye screening but screening is very important when you are pregnant because the risk of serious eye problems is greater.

• Newborn Bloodspot

  When your baby is 5 days old, you will be offered a heel prick type blood test for your baby to find out if he or she has any of 9 rare but serious health conditions.
  
  These are:

  • Sickle cell disease affects 1 in 2800 babies in the UK
  • Cystic fibrosis affects 1 in 2500 babies in the UK
  • Congenital hypothyroidism affects 1 in 2000 babies in the UK
  • Inherited metabolic diseases
    • phenylketonuria (PKU)
    • medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
    • maple syrup urine disease (MSUD)
    • isovaleric acidaemia (IVA)
    • glutaric aciduria type 1 (GA1)
    • homocystinuria (pyridoxine unresponsive) (HCU

  About 1 in 10,000 babies born in the UK has PKU or MCADD. The other conditions are rarer, occurring in 1 in 150,000 babies to 1 in 300,000 babies.