Screening tests for you and your baby
This area of our website aims to provide you with information about the screening tests that are available to you and your baby, in the antenatal and postnatal period.
During your first appointment with your midwife, you will receive the national information leaflet ‘screening tests for you and your baby’. The leaflet is also available to download here and is available in several different languages.
Public Health England have an online video with an animated timeline that briefly covers antenatal and newborn screening, the tests that take place during different stages of your pregnancy and any test that take place after you’ve had your baby (postnatally).
We now have subtitled versions of the animation in the 10 most commonly requested languages. Subtitled versions include English and translations in Arabic, Bengali, Chinese, French, Latvian, Lithuanian, Polish, Portuguese, Punjabi, Romanian, Somali and Urdu. The animations are available here.
Your community midwife will discuss all of the screening tests available to you, some of these tests will also be offered to you at your booking appointment, so it may be helpful to read the information prior to this.
The screening tests you will be offered in pregnancy include;
- Haemoglobin disorders such as Sickle Cell and Thalassaemia.
- Infectious diseases such as HIV, Hepatitis B and Syphilis.
- Fetal anomaly screening for Down’s, Edward’s and Patau’s Syndrome.
- Fetal anomaly scan between 18 and 20+6 weeks.
Haemoglobin disorders such as sickle cell and Thalassaemia
At your booking appointment with your community midwife, you will be offered a blood test to see if you are a carrier of an abnormal haemoglobin such as sickle cell or thalassaemia. Sickle cell disease (SCD) and thalassaemia are inherited blood disorders.
If you’re a carrier of the sickle cell or thalassaemia gene, you can pass these health conditions on to your baby. All pregnant women in England are offered a blood test to find out if they carry a gene for thalassaemia.
Those at high risk (this is decided by your family origin) of being a sickle cell carrier are offered a test for sickle cell. If the mother is found to be a carrier, screening is also offered to the father.
Genes work in pairs: for everything we inherit, we get 1 gene from our mother and 1 gene from our father. People only have sickle cell disease or thalassaemia if they inherit 2 unusual haemoglobin genes: 1 from their mother and 1 from their father. People who inherit just one unusual gene are known as carriers or as having a trait. Carriers are healthy and do not have the disease.
When both parents are carriers, each time they’re expecting a child there is a:
- 1 in 4 chance of the child not having or carrying the disease.
- 2 in 4 chance of the child being a carrier.
- 1 in 4 chance of the child having the disease.
If you find out you and the father are both carriers, you will have the option of further tests to know if your baby will be affected. Find out more on the NHS website.
Infectious diseases such as HIV, hepatitis B and syphilis
At your booking appointment with your community midwife, you will be offered a blood test for three infectious diseases: hepatitis B, HIV and syphilis. This is part of routine antenatal screening and is offered, and recommended, for all pregnant women in England in every pregnancy.
Hepatitis B, HIV and syphilis can all be passed from mother to baby during pregnancy and birth. If we know about them, you can receive specialist care or medicine to reduce the risk of damage to you or your baby.
HIV weakens the immune system, making it difficult to fight off infections. If left untreated, it can lead to AIDS (acquired immune deficiency syndrome). HIV is passed on in blood and other body fluids through sexual contact or infected needles.
HIV can be passed from a woman to her baby during pregnancy, birth or breastfeeding if it’s not treated.
Syphilis is usually passed on through close contact with a syphilis sore during sex. It can also be passed from a pregnant woman to her unborn baby during pregnancy.
If untreated, syphilis can cause serious health problems for the mother and her baby, or cause miscarriage or stillbirth.
Syphilis is treated with antibiotics. The earlier it’s treated, the lower the risk of passing syphilis on to the baby.
Hepatitis B affects the liver and can cause immediate (acute) and long-term (chronic) illness. It’s passed on in blood and other body fluids through sexual contact or infected needles.
Pregnant women with hepatitis B need specialist care, which you’ll be offered if the test is positive or if you already know you have hepatitis B. It is important to inform your community midwife at your booking appointment, if you know you have hepatitis B.
If your baby completes a course of vaccinations in their first year, this greatly reduces their risk of developing hepatitis B.
Find out more about infectious diseases on the NHS website.
Screening for Down’s, Edward’s and Patau’s Syndrome
All pregnant women in England are offered a screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome between 11+2 and 14+1 weeks of pregnancy. This is to assess your chances of having a baby with these conditions.
If a screening test shows that you have a higher chance of having a baby with Down’s syndrome, Edwards’ syndrome or Patau’s syndrome, you’ll be offered diagnostic tests to find out for certain if your baby has the condition
Down’s syndrome (trisomy 21/ T21)
Down’s syndrome causes some level of learning disability. It can vary from mild to severe.
People with Down’s syndrome may be more likely to have other health conditions, such as heart conditions, and problems with the digestive system, hearing and vision. Sometimes these can be serious, but many can be treated.
Edward’s (trisomy 18/T18) and Patau’s (trisomy 13/T13)
Sadly, most babies with Edwards’ syndrome or Patau’s syndrome will die before or shortly after birth. Some babies may survive to adulthood, but this is very rare.
All babies born with Edwards’ syndrome or Patau’s syndrome will have a wide range of problems, which are usually very serious. These may include major complications affecting their brain.
A screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome is available between weeks 11+2 and 14+1 of pregnancy. It’s called the combined test because it combines an ultrasound scan with a blood test. It is important that both elements of the test performed, that is the scan and the blood test. Without either component the test is incomplete and inaccurate.
If you choose to have the test, you will have a blood sample taken. At the scan, the fluid at the back of the baby’s neck is measured to determine the “nuchal translucency”. Your age and the information from these 2 tests is used to work out the chance of the baby having Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.
The screening test will not tell you whether your baby does or does not have Down’s, Edwards’ or Patau’s syndromes – it will tell you if you have a higher or lower chance of having a baby with one of these conditions.
Obtaining a nuchal translucency measurement depends on the position of the baby and is not always possible.
If it was not possible to obtain a nuchal translucency measurement on 2 occasions, or you’re more than 14+1 weeks into your pregnancy, you’ll be offered a test called the quadruple blood screening test between 14+2 and 20 weeks of pregnancy, ideally performed at 16 weeks of pregnancy. This test only screens for Down’s syndrome and is not quite as accurate as the combined test.
If the screening test shows that the chance of the baby having Down’s syndrome, Edwards’ syndrome or Patau’s syndrome is higher than 1 in 150 – that is, anywhere between 1 in 2 and 1 in 150 – this is called a higher-chance result.
A higher-chance result does not mean the baby definitely has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.
If you have a higher-chance result, you will be offered a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). This will tell you for certain whether or not your baby has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.
About 0.5 to 1 in 100 diagnostic tests result in a miscarriage. It’s up to you whether to have the further tests.
When trying to decide whether to have a diagnostic test, try to weigh up the risk of miscarriage with how important the result will be to you. The government website has more information about these screening tests.
A small number of women who have a diagnostic test will find out their baby has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. They then have two options.
- Some women decide to continue with the pregnancy and prepare for their child with the condition.
- Others decide they do not want to continue with the pregnancy and have a termination.
If you are faced with this choice, you will get support from health professionals to help you make your decision.
Fetal anomaly scan
This detailed ultrasound scan, sometimes called the mid-trimester or anomaly scan, is usually carried out when you’re between 18 and 21 weeks pregnant, at ULHT, we aim to carry out this scan between 19+6 and 20+6 to minimise the need for a repeat scan in the event that the first scan is unable to see all required aspects of your baby.
The 20-week scan is offered to everybody, but you do not have to have it if you do not want to.
The scan checks the physical development of your baby, although it cannot pick up every condition. The 20-week scan looks in detail at the baby’s bones, heart, brain, spinal cord, face, kidneys and abdomen.
It allows the sonographer to look for 11 rare conditions. The scan only looks for these conditions, and cannot find everything that might be wrong.
You can find more information on each of these conditions, including treatment options, in these leaflets:
- Open spina bifida
- Cleft lip
- Diaphragmatic hernia
- Serious cardiac abnormalities
- Bilateral renal agenesis
- Lethal skeletal dysplasia
- Edward’s syndrome
- Patau’s syndrome
Most scans show that the baby seems to be developing as expected. If any condition is found or suspected, the sonographer may ask for another member of staff to look at the scan and give a second opinion. You would then be told what the concerns were, but the exact problem might not be clear at this stage. If necessary, you will be referred to a specialist centre, normally Queens Medical Centre, City Hospital Nottingham or Leicester Royal.
Scans cannot find all conditions, and there’s always a chance that a baby may be born with a health issue that scans could not have seen.
Following the birth of your baby there will be further screening tests offered to you to assess the well-being of your baby.
These tests include:
- Newborn hearing screen.
- Newborn infant physical examination (NIPE).
- Newborn blood spot screening (NBBS).
Newborn hearing screen
The newborn hearing screening test helps identify babies who have permanent hearing loss as early as possible. This means parents can get the support and advice they need right from the start.
One to two babies in every 1,000 are born with permanent hearing loss in one or both ears. Permanent hearing loss can significantly affect babies’ development. Finding out early can give these babies a better chance of developing language, speech, and communication skills. If you give birth in hospital, you may be offered a newborn hearing test for your baby before you’re discharged.
Otherwise it’ll be done by a health professional, healthcare assistant or health visitor within the first few weeks. The test is called the automated otoacoustic emission (AOAE) test. It takes just a few minutes. A small soft-tipped earpiece is placed in your baby’s ear and gentle clicking sounds are played. It’s not always possible to get clear responses from the first test. This happens with lots of babies, and doesn’t always mean your baby has a permanent hearing loss.
It could mean:
- your baby was unsettled when the test was done.
- there was background noise.
- your baby has fluid or a temporary blockage in their ear.
In these cases, your baby will be offered a second test. This may be the same as the first test, or another type called the automated auditory brainstem response (AABR) test. The AABR test involves placing 3 small sensors on your baby’s head and neck. Soft headphones are placed over your baby’s ears and gentle clicking sounds are played. This test takes between five and 15 minutes.
These tests won’t harm your baby in any way. Find out more on the NHS website.
When your baby is born, the midwife will give your baby a visual top to toe check. All parents are then offered a thorough physical examination for their baby within 72 hours of giving birth. The newborn physical examination is usually carried out in hospital before you go home. Sometimes it’s done at a hospital clinic or community setting.
The examination includes screening tests to find out if your baby has any problems with their eyes, heart, hips and, in boys, testicles. The aim is to spot any problems early so treatment can be started as soon as possible. Usually, nothing of concern is found.
During the examination, the health professional will:
- look into your baby’s eyes with a special torch to check how their eyes look and move.
- listen to your baby’s heart to check their heart sounds.
- examine their hips to check the joints.
- examine baby boys to see if their testicles have descended into the scrotum.
If the health professional carrying out the examination does find a possible problem, they may refer your baby for more tests. You’ll be offered another physical examination for your baby at 6 to 8 weeks, as some of the conditions it screens for can take a while to develop. This second examination is usually done at your GP’s surgery. Find out more on the NHS website.
Every baby is offered newborn blood spot screening, when they are five days old. Newborn blood spot screening involves a health professional pricking the heel of the baby and collecting 4 drops of blood on a special card to find out if your baby has 1 of 9 rare but serious health conditions.
And six 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)
Most babies won’t have any of these conditions but, for the few who do, the benefits of screening are enormous. Early treatment can improve their health, and prevent severe disability or even fatalities. Find out more on the NHS website.