Screening Tests During Your Pregnancy & After Your Baby is Born

The tests offered include:

• Infectious Diseases – HIV, Hepatitis B and Syphilis
• Sickle cell anaemia and thalassaemia
• Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome
• The 20-week scan

Infectious Diseases – HIV, Hepatitis B and Syphilis

All women booking for antenatal care will be offered screening blood tests identify if you have any of these infections. This is because if these conditions are left undetected, they may be harmful to you and your baby. Although all blood tests in pregnancy are not compulsory screening for Infectious diseases is strongly recommended by Public Health England. Early detection of these conditions drastically reduces the chance of your baby being born infected with the 3 conditions. For example, if we can identify that a mother is Chronic Hepatitis B positive then we can facilitate a baby to undergo the vaccination schedule which will significantly reduce the risk of transmission.

Further information.

 

Sickle Cell and Thalassaemia Anaemia

All women who plan to have their baby at Saint Mary’s Hospital sites (Oxford Road Campus and Saint Mary’s @ Wythenshawe) will be offered screening for Sickle Cell Anaemia and Thalassaemia in pregnancy.  Sickle Cell and Thalassaemia are genetic blood disorders which affect the way that red blood transport oxygen around the body.  You yourself may be a healthy carrier of the disorder but not necessarily be affected by the disease. If the father of the baby is also a carrier of the gene, then you have a 1 in 4 chance of having a baby with a Haemoglobinopathy disorder. If you are found to be a carrier of the gene, then the baby’s farther will also be offered a test so that we can calculate the chance of the baby being affected and offer you the right support and information about the next steps.

Further information.

Pregnancy dating scan

The pregnancy dating ultrasound scan:

• checks your baby’s heartbeat
• finds out if there is more than one baby
• measures your baby to estimate how many weeks’ pregnant you are
• checks for some conditions in your baby that might be seen at this stage

The pregnancy dating ultrasound scan is part of the combined screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome, if you choose to be screened

The scan is usually offered between 10 and 14 weeks of pregnancy, the exact date will depend on whether or not you plan to take the combined screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome.

Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome

Some people want to find out if their baby has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome and some do not. Screening for these conditions is your choice.

This short animation explains screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome in pregnancy.

You can choose to have

• no screening
• screening for Down’s syndrome only
• screening for Edwards’ syndrome and Patau’s syndrome only
• screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome

If you choose to have screening for any of these conditions, you will be offered the combined screening test. The test includes an ultrasound scan and a blood test from you and you must attend for both of these within the required screening timeframe. This is because the scan can only be done when your baby is a certain size and the bloods are only valid within a specific timeframe. The information from the scan and the blood test is combined to work out the chance of you having a baby with Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.

Sometimes it is difficult to take the nuchal translucency measurement (collection of fluid under the skin behind the fetal neck) of your baby during the scan. This might be because your baby is lying in an awkward position or you are above average weight. If this is the case you will be asked to change position and/or move around and one further attempt will be made.

If it is not possible to complete the scan part of the combined test because of the reasons above, or because your pregnancy is too advanced your choices of screening are:

• The Quadruple (Quad) test – this is a blood test to screen for Down’s syndrome and is usually taken between 14 weeks and 2 days and 20 weeks of pregnancy. The Quad test is nearly as accurate as the combined test.
• Screening for Edwards’ syndrome and Patau’s syndrome, which is offered as part of the 20-week scan.
• Screening for Edwards’ syndrome and Patau’s syndrome, which is offered as part of the 20-week scan.

Screening test results for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome

These tests do not tell us whether your baby definitely has Down’s, Edwards’ or Patau’s syndrome.  They simply tell us whether you are at high chance (defined as a chance higher than 1 in 150) or low chance of having a baby with Down’s, Edwards’ or Patau’s syndrome.

If the screening test shows that you are in the low chance group you will usually receive a letter informing you of this within two weeks of the test.

If the screening test shows that you are in the high chance group, the specialist Screening Midwife will contact you by phone within one week of the test to discuss the results and the options for management with you.  This will include the offer of a diagnostic test, either Chorionic Villus Sampling (CVS) or an amniocentesis to find out if your baby has Down’s, Edwards’ or Patau’s syndrome or not.  These tests both have a small risk of miscarriage.

Women receiving high chance results for screening tests taken after 1 June 2021 will also be offered non-invasive prenatal testing (NIPT). The NIPT test looks for fetal DNA in the maternal circulation from a sample of mother’s blood. This is a screening test, not a diagnostic test, but the detection rate is over 99% compared to the combined screening test which has a detection rate of 86%. There is no risk of miscarriage. The screening test result shows whether there is a low or high chance of your baby having Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.  The results are usually available within one week of the blood sample being taken.

The 20-week scan

This scan is a screening test that takes place between 18 weeks and 20 weeks plus 6 days of pregnancy. The scan looks for 11 physical conditions in your baby.

This short video explains screening for 11 physical conditions in pregnancy.

Screening is your choice. You do not have to have the 20-week scan. Some people want to find out if their baby has one of the 11 physical conditions and some do not. When deciding whether or not to have the 20-week scan it is important to understand that scans cannot find all conditions. There is always a chance that a baby may be born with a condition that could not be seen on scan.

If you choose to have this scan, you may need to make important personal decisions based on the results. Whatever you decide, you will be supported by your healthcare team.

To check for the 11 conditions, the scan looks in detail at your baby’s:

• abdomen
• bones
• brain
• face
• heart
• kidneys
• spinal cord

In most cases, the scan will show that your baby appears to be developing as expected and does not have any of the 11 physical conditions screened for.

You will always be told if anything unexpected is found during your scan.

Sometimes it is difficult to get a clear view of all of your baby at this scan. This does not mean there is anything to worry about but if this is the case, you will be offered a second scan by 23 weeks of pregnancy.

Diabetic Eye Screening

Diabetic eye screening is recommended by the NHS to check for signs of diabetic retinopathy and other eye problems caused by diabetes and monitor the health of your eyes if you are pregnant and have type 1 or type 2 diabetes but not if you develop gestational diabetes.

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.

This test is strongly recommended if you already had diabetes before getting pregnant. Eye screening is a part of managing your diabetes and diabetic retinopathy is treatable, especially if it is caught early.

People with diabetes can decide not to attend eye screening appointments. If you decide not to have the test you should notify the clinician looking after your diabetes care during pregnancy.

The screening test

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.

The screening test during pregnancy is the same as routine screening at all other times.

Screening staff will record your details and level of sight. They will put drops in your eyes to make your pupils larger so the retinas can be seen more clearly. They then take digital photographs of your retinas.

If the images are not clear enough you will be referred to an eye specialist for a different test.

The photograph is painless and the camera does not come into contact with the eye. The eye drops may sting for a few seconds and cause blurred vision for 2 to 6 hours after the test. You should not drive after screening as the eye drops can blur vision.

Very rarely, the drops can cause a sudden, dramatic rise in pressure within the eye. Symptoms of pressure rise include:

• pain or severe discomfort in the eye
• redness of the white of the eye
• constantly blurred sight

If you experience any of these symptoms after screening, you should return to the eye unit or go to an accident and emergency department.

Results

A letter with your results will be sent to you and your GP within 6 weeks following your screening appointment.

Possible results are:

• no retinopathy
• early signs of retinopathy
• more serious retinopathy that requires referral to a specialist

If your test shows early signs of retinopathy, your health professional will give you advice about looking after your diabetes during pregnancy. You would then be invited for additional screening tests during your pregnancy. If you are a smoker, seek help to stop or at least cut down.

If the test shows you have referable retinopathy you will receive an appointment with an eye specialist.

New-born Physical Examination (eyes, heart, hips and testes)

Within 72 hours of giving birth, you will be offered a top-to-toe physical examination for your new-born baby. It 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.

This examination is recommended by the NHS, but like all screening tests it is optional. You can decide to have your baby examined and screened for any, all, or none of the conditions.

This short video explains screening for eyes, heart, hips and testes in new-born babies.

This examination will take place in hospital or at home.

The screening tests will be carried out again between 6 and 8 weeks of age at your GP as some conditions do not develop or become apparent until then.

Each part of the new-born physical examination is looking for different conditions.

Eyes

About 2 or 3 in 10,000 babies have problems with their eyes that need treatment. The examination checks the appearance and movement of the eyes. The main reason for screening is to identify a condition called cataracts (a clouding of the transparent lens inside the eye). The examination cannot tell how well your baby can see.

Heart

There is a general examination of your baby’s heart and sometimes murmurs are picked up. A murmur is a noise made by the blood as it passes through the heart. In almost all cases when a murmur is heard, the heart is normal. Murmurs are common in babies and this does not always mean there is a problem. However, around 1 in 200 babies have a heart problem that needs treatment.

Hips

Babies can be born with hip joints that are not formed properly and if untreated this can lead to a limp and to joint problems. About 1 or 2 in 1,000 babies have hip problems that need treatment.

Testes

Baby boys are checked to make sure their testes are in the right place. It can take several months for testes to descend into the scrotum. About 1 in 100 baby boys have problems with undescended testes that need treatment to reduce the risk of problems later in life, such as reduced fertility.

The health professional carrying out the examination will give you the results straight away. Usually there will be nothing of concern found. If the health professional finds a possible problem, they will discuss this with you at the time of the examination and your baby will be referred for further assessment and tests if appropriate.

Blood Spot Screening

When your baby is 5 days old you will be offered new-born blood spot screening (sometimes known as the heel prick test) to find out if your baby has any of 9 rare but serious health conditions.

The blood spot screening test is recommended by the NHS, because it could save your baby’s life but like all screening tests it is optional.

This short video explains blood spot screening in newborn babies.

You can choose to have your baby screened for sickle cell disease, cystic fibrosis or congenital hypothyroidism individually. Screening for the six inherited metabolic diseases must be done as a group of all six diseases or none at all. If you do not want your baby screened for any of the conditions or have any concerns about the test, please talk to your midwife.

This examination will take place in hospital or at home.

Early screening is best as treatment can be started as soon as possible if needed. But if you choose not to have screening, your baby can have the test later if you change your mind. Babies can be screened up to 12 months of age for all the conditions except cystic fybrosis (only up to 8 weeks of age).

Early treatment can improve your baby’s health and prevent severe disability or even death. If you, the baby’s father, or a family member already has one of these conditions, please tell your health professional straight away as your baby may need to be screened earlier, even as soon as within 24 hours of birth.

About these conditions

Sickle cell disease

About 1 in 2,800 babies born in the UK has a sickle cell disease (SCD). These are serious, inherited blood diseases. They affect haemoglobin, a part of the blood that carries oxygen around the body. Babies who have SCD will need specialist care throughout their lives.

People with SCD can have attacks of severe pain, get serious, life-threatening infections and are usually anaemic (their bodies have difficulty carrying oxygen). Babies with SCD can receive early treatment, including vaccinations and antibiotics, which, along with support from their parents, will help prevent serious illness and allow them to live a healthier life.

Cystic fibrosis

About 1 in 2,500 babies born in the UK has cystic fibrosis (CF). This inherited condition affects the digestion and lungs. Babies with CF may not gain weight well and frequently have chest infections. Babies with CF can be treated early with a high-energy diet, medicines and physiotherapy. Although children with CF may still become very ill, early treatment can help them live longer, healthier lives.

Congenital hypothyroidism

About 1 in 2,000 babies born in the UK has congenital hypothyroidism (CHT). Babies with CHT do not have enough of the hormone thyroxine. Without thyroxine babies do not grow properly and they can develop permanent serious physical problems and learning disabilities.

Babies with CHT can be treated early with thyroxine tablets and this will allow them to develop normally.

Inherited metabolic diseases

It is important to let your health professional know if you have a family history of a metabolic condition as your baby may need to be screened earlier, even as soon as within 24 hours of birth. Babies are screened for 6 inherited metabolic diseases (IMDs).

These are:

• 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.

Babies with these inherited conditions cannot process certain substances in their food. Without treatment babies with some of these conditions can become suddenly and seriously ill. The symptoms of the conditions are different; some may be life threatening or lead to severe developmental problems.

They can all be treated by a carefully managed diet, which is different for each condition and may include additional medicines.

Results

Most babies will have normal results indicating that it is unlikely that they have any of the conditions. A small number of babies will screen positive for one of the conditions. This does not mean they have the condition but they are more likely to have it. They will be referred to a specialist for further tests.

Screening for cystic fibrosis finds some babies who may be genetic carriers of the condition. These babies may need further testing. Screening does not detect all carriers.

Occasionally, other medical conditions might be identified through these screening tests. For example, babies with beta thalassaemia major (a serious blood disease) will usually be detected. These children also need to be referred for lifelong treatment and care.

Screening for sickle cell disease also finds babies who are genetic carriers of these or other red blood cell diseases. Carriers are healthy although they can experience some problems in situations where their bodies might not get enough oxygen, for example, if they are having an anaesthetic.

You should receive the results from a health professional by the time your baby is 6 weeks old. The results should be recorded in your baby’s personal child health record (‘red book’). Please keep this safe and bring it with you to any further appointments. You will be contacted sooner if there is thought to be any problem with your baby.

Hearing Screening

Hearing screening is recommended for your baby to find babies who have a hearing loss so that support and advice can be offered right from the start.

Finding hearing loss early is important for your baby’s development.

This short video explains screening for hearing loss in new-born babies.

1-2 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. In some areas, screening will be done by the health visitor within the first few weeks. 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.

The test called the AOAE (automated otoacoustic emission) test takes a few minutes. A small soft tipped earpiece is placed in your baby’s ear and soft clicking sounds are played. When an ear receives sound, the inner part (called the cochlea) responds and this can be picked up by the screening equipment.

It is not always possible to get clear responses from the first test. This does not necessarily mean your baby has a hearing loss. It can 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 – this is very common and passes with time
• your baby has a hearing loss

In these cases your baby will be offered another test. This may be the same as the first test, or another type called the AABR (automated auditory brainstem response) test. This involves 3 small sensors being placed on your baby’s head and neck. Soft headphones are placed over your baby’s ears and soft clicking sounds are played. This test takes between 5 and 15 minutes.

If you decide not to have the new-born hearing screening test you will be given checklists to help you check on your baby’s hearing as they grow older. If you have any concerns you should speak to your health visitor or GP.

Results

You will be given your baby’s results as soon as the hearing test is done.

If your baby has a clear response in both ears then they are unlikely to have a permanent hearing loss. However, new-born hearing screening does not pick up all types of hearing loss and children can develop hearing loss later on. It is important to check your child’s hearing as they grow up. The checklist in your baby’s personal child health record (‘red book’) tells you how to do this.

If the screening test results do not show a clear response from one or both of your baby’s ears an appointment will be made with audiology to see a hearing specialist.

About 2 to 3 babies in every 100 do not show a clear response on the screening tests. Being sent for further tests does not necessarily mean your baby has a hearing loss.

A hearing specialist should see you within 4 weeks of having your baby’s hearing screening test. It is very important that you attend the appointment in case your baby has a hearing loss.