RACHAEL KIRKWOOD

Newborn Screening Tests

PHYSICAL EXAMINATION

All parents are offered a thorough physical examination for their baby within 72 hours of giving birth.

The examination includes screening tests to find out if your baby has any problems with their eyes, heart, hips and, in boys, the testicles (testes).

A baby having a newborn physical examination

The newborn physical examination is usually carried out in hospital before you go home. Sometimes it's done at a hospital or community clinic, GP surgery, children's centre, or at home.

Ideally, both parents should be there when the examination is done.

The health professional doing the examination should explain what it involves. This could be a doctor, midwife, nurse or health visitor who's been trained to do the examination.

Some parts of the examination may be a bit uncomfortable for your baby, but it won't cause them any pain.

The aim is to spot any problems early so treatment can be started as soon as possible. Usually, nothing of concern is found.

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.

How is the newborn physical examination done?

The health professional will give your baby a thorough physical examination. They'll also ask you questions about how your baby is feeding, how alert they are, and about their general wellbeing.

Your baby will need to be undressed for part of the examination.

During the examination, the health professional will also:

  • 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

What does the newborn physical examination check for?

The examination includes an overall physical check plus 4 different screening tests.

Eyes

The health professional will check the appearance and movement of your baby's eyes. They're looking for cataracts, which is a clouding of the transparent lens inside the eye, and other conditions.

About 2 or 3 in 10,000 babies are born with problems with their eyes that need treatment. But the examination can't tell you how well your baby can see.

Heart

The health professional will check your baby's heart. This is done by observing your baby, feeling your baby's pulses, and listening to their heart with a stethoscope.

Sometimes heart murmurs are picked up. A heart murmur is where the heartbeat has an extra or unusual sound caused by a disturbed blood flow through the heart.

Heart murmurs are common in babies. The heart is normal in almost all cases where a murmur is heard. But about 1 in 200 babies has a heart problem that needs treatment.

Hips

Some newborns have hip joints that aren't formed properly. This is known as developmental dysplasia of the hip (DDH). Left untreated, this can cause a limp or joint problems. About 1 or 2 in 1,000 babies have DDH that needs treating.

Testicles

Baby boys are checked to make sure their testicles are in the right place. During pregnancy, the testicles form inside the baby's body. They may not drop down into the scrotum until a few months after birth.

In about 1 in 100 baby boys, the testicles only descend partially or not at all. This needs treating to prevent possible problems later in life, such as reduced fertility.

Does my baby have to have the examination?

The aim of the examination is to identify any of the problems early so treatment can be started as soon as possible. It's strongly recommended for your baby, but not compulsory.

You can decide to have your baby examined and screened for any or all of the conditions.

If you have any concerns, you should talk to your midwife or the health professional offering the examination.

When will we get the results?

The health professional carrying out the examination will give you the results straight away. If your baby needs to be referred for more tests, they'll discuss this with you there and then, too.

HEARING TEST

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.

This increases to about 1 in every 100 babies who have spent more than 48 hours in intensive care.

Most of these babies are born into families with no history of permanent hearing loss.

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.

It'll also help them make the most of relationships with their family or carers from an early age.

When's the newborn hearing test done?

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.

You'll be contacted by your local newborn hearing screening service to arrange a suitable time and venue.

Ideally, the test is done in the first 4 to 5 weeks, but it can be done at up to 3 months of age.

If you aren't offered a screening test, ask your health visitor, local audiology department or GP to arrange an appointment, or contact your local newborn hearing screening service.

How's the newborn hearing test done?

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 5 and 15 minutes.

These tests won't harm your baby in any way.

When will we get the results?

You'll be given your baby's hearing test results as soon as the test is done. If your baby has a clear response in both ears, they're unlikely to have permanent hearing loss.

But the newborn hearing test doesn't pick up all types of permanent hearing loss. Children can also develop permanent hearing loss later on, so it's 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.

You can also download 2 checklists: one that tells you what sounds your baby should make, and another that tells you what sounds your baby should react to.

If you have any concerns about your child's hearing, tell your health visitor or GP.

THE HEEL PRICK TEST

Every baby is offered newborn blood spot screening, also known as the heel prick test, ideally when they're 5 days old.

Newborn blood spot screening involves taking a blood sample to find out if your baby has 1 of 9 rare but serious health conditions.

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 death.

newborn blood spot test

What does the blood spot test involve?

When your baby is 5 days old, a health professional will prick their heel and collect 4 drops of blood on a special card.

You can ease any distress for your baby by cuddling and feeding them, and making sure they're warm and comfortable.

Occasionally, the sample may need to be taken when your baby is 6, 7 or 8 days old.

Sometimes a second blood spot sample is needed. The reason for this will be explained to you. It doesn't necessarily mean there's something wrong with your baby.

The test doesn't carry any known risks for your baby.

Which conditions is the blood spot test for?

The blood spot test screens for the following 9 rare but serious conditions.

If you, your partner or a family member already has one of these conditions (or a family history of it), tell your health professional straight away.

Sickle cell disease

About 1 in 2,000 babies born in the UK has sickle cell disease. This is a serious inherited blood disease.

Sickle cell disease affects haemoglobin, the iron-rich protein in red blood cells that carries oxygen around the body.

Babies who have this condition will need specialist care throughout their lives.

People with sickle cell disease can have attacks of severe pain and get serious, life-threatening infections. They're usually anaemic because their blood cells have difficulty carrying oxygen.

The blood spot screening test means that babies with sickle cell disease can receive early treatment to help them live healthier lives. This may include vaccinations and antibiotics to prevent serious illnesses.

Pregnant women are also routinely tested for sickle cell disease early in pregnancy.

Read more about sickle cell disease, or download leaflets for parents whose child has sickle cell disease.

Cystic fibrosis

About 1 in 2,500 babies born in the UK has cystic fibrosis. This inherited condition affects the digestion and lungs.

Babies with cystic fibrosis may not gain weight well and are prone to chest infections.

Babies with the condition can be treated early with a high-energy diet, medicines and physiotherapy.

Although children with cystic fibrosis may still become very ill, early treatment can help them live longer, healthier lives.

Read more about cystic fibrosis, or download a leaflet for parents whose baby has suspected cystic fibrosis.

Congenital hypothyroidism

About 1 in 3,000 babies born in the UK has congenital hypothyroidism. Babies with congenital hypothyroidism don't have enough of the hormone thyroxine.

Without thyroxine, babies don't grow properly and can develop learning disabilities.

Babies who have the condition can be treated early with thyroxine tablets, and this allows them to develop normally.

For more information about congenital hypothyroidism see the British Thyroid Foundation.

Inherited metabolic diseases

It's important to let your health professional know if you have a family history of a metabolic disease (a disease that affects your metabolism).

Babies are screened for 6 inherited metabolic diseases. These are:

About 1 in 10,000 babies born in the UK has PKU or MCADD. The other conditions are rarer, occurring in 1 in 100,000 to 150,000 babies.

Without treatment, babies with inherited metabolic diseases can become suddenly and seriously ill. The diseases all have different symptoms.

Depending on which one affects your baby, the condition may be life threatening or cause severe developmental problems.

They can all be treated with a carefully managed diet and, in some cases, medicines as well.

Does my baby have to have the blood spot test?

It's not compulsory, but it's recommended because it could save your baby's life.

You can choose to have screening for sickle cell disease, cystic fibrosis or congenital hypothyroidism individually, but you can only choose to have screening for all 6 inherited metabolic diseases or none at all.

If you don't want your baby to be screened for any of these conditions, discuss it with your midwife.

You should be given information about the blood spot test and the diseases it screens for in advance so you can make an informed decision for your baby.

If you change your mind, babies can be screened up to the age of 12 months for all the conditions except cystic fibrosis. Cystic fibrosis can only be screened for up to 8 weeks of age.

If you have any concerns about the tests, speak to your midwife, health visitor or GP.

When will we get the results?

You should receive the results either by letter or from a health professional by the time your baby is 6 to 8 weeks old.

The results should be recorded in your baby's personal child health record (red book). It's important to keep this safe and take it with you to all your baby's appointments.

If you haven't received your baby's results, speak to your health visitor or GP.

You'll be contacted sooner if your baby screens positive. This means they're more likely to have one of the conditions tested for.

You'll be contacted:

  • the day the result is available, or the next working day, if your baby is thought to have congenital hypothyroidism (CHT) – you'll be given an appointment to see a specialist
  • before your baby's 4 weeks old if they're thought to have cystic fibrosis
  • before your baby's 6 weeks old if they're thought to have sickle cell disease

Screening for cystic fibrosis finds some babies who may be genetic carriers of the condition. These babies may need further testing.

Screening for sickle cell disease also finds babies who are carriers of this or other red blood cell diseases.

Carriers are healthy, although they can experience problems in situations where their bodies aren't getting much oxygen – for example, if they're having an anaesthetic.

Parents of babies who are found to be carriers should be told by the time they're 6 to 8 weeks old.

What do the results mean?

Most babies will have a normal result, which means it's unlikely that they have any of the conditions.

A small number of babies will screen positive for one of the conditions. This doesn't mean they have the condition, but they're more likely to have it. They'll be referred to a specialist for more tests.

It's important to know that screening isn't 100% certain. A baby with a negative screening result may later turn out to have the disease screened for. This is known as a false negative.

Babies with a positive result sometimes turn out not to have the disease – what's known as a false positive.

Occasionally, other medical conditions are picked up by blood spot test screening. For example, babies with beta thalassaemia major, a serious blood disease, will usually be detected. These babies also need to be referred for early treatment.

References from NHS Your pregnancy and baby guide

latest blog articles

More from the blog...