Newborn tests in the UK

Three tests, three different windows

This page is about tests done on your baby after the birth. It is separate from antenatal screening, which is offered to you during pregnancy and looks for conditions in the pregnancy itself. Newborn screening starts again from scratch once the baby is here, on different samples, in different windows, with different results.

All three are recommended for every baby and all three are optional. You will be given information during pregnancy, usually at your booking appointment, and asked again after the birth.

The newborn physical examination, within 72 hours

Often called NIPE, this is done by a specially trained midwife, nurse or doctor, normally before your baby is 3 days (72 hours) old, and usually before you leave hospital. It may instead happen at home, at a GP surgery, community clinic or children's centre.

You will be asked about feeding and family history, then asked to undress your baby. The examiner looks at the whole body and specifically checks four things:

• Eyes, using a special torch to check how they focus and move — looking for childhood cataracts.
• Heart, taking the pulse and listening — looking for congenital heart disease.
• Hips, checking they have grown properly and move as expected — looking for developmental dysplasia of the hip.
• Testicles, for boys, checking they have moved into the scrotum.

It is not painful and carries no known risk. You are told the results straight away. The same examination is repeated at 6 to 8 weeks, usually by a GP, because some of what it looks for takes longer to show up. If you have not been offered either one, say so.

The newborn blood spot test, day 5

The heel prick. A healthcare professional pricks your baby's heel with a device holding a tiny needle and collects a few drops of blood onto a special card, which is sent away. It is normally done when your baby is 5 days old, usually at home by a community midwife or health visitor, sometimes in hospital or at another appointment. Feeding, cuddling and keeping your baby warm helps.

It screens for 10 rare but serious conditions:

• Cystic fibrosis
• Sickle cell disease
• Congenital hypothyroidism
• Phenylketonuria (PKU)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• Maple syrup urine disease (MSUD)
• Isovaleric acidaemia (IVA)
• Glutaric aciduria type 1 (GA1)
• Homocystinuria (HCU)
• Hereditary tyrosinaemia type 1 (HT1)

Tell your midwife or doctor as early as possible if you or anyone related to your baby has any of these conditions.

The results

You should have results by the time your baby is 6 weeks old, sooner depending on the finding, by letter, phone or in person, and they are recorded in the red book. There are three possible outcomes: no conditions suspected, which is what most babies get; carrier of a condition, which mainly arises for cystic fibrosis, sickle cell disease or another red blood cell condition; or a condition suspected, which triggers referral.

Sometimes the test simply needs repeating. Someone will contact you to explain why and arrange it. There are many reasons for this and it does not by itself mean anything is wrong. If you have no results by 6 weeks, chase your midwife, health visitor or GP.

The newborn hearing screen

Between 1 and 2 babies in every 1,000 are born with permanent hearing loss in one or both ears, rising to about 1 in 100 among babies who have spent more than 48 hours in intensive care. Most are born into families with no history of it, which is precisely why screening is universal rather than targeted.

If you give birth in hospital the test may be offered before discharge. Otherwise your local screening service contacts you to arrange it. Ideally it is done in the first 4 to 5 weeks, and it can be done up to 3 months of age.

The first test is the automated otoacoustic emission (AOAE) test: a soft-tipped earpiece plays gentle clicking sounds and measures the response. It takes a few minutes. Clear responses are not always obtained first time — because the baby was unsettled, there was background noise, or there is temporary fluid in the ear — and a second test is then offered. That may repeat the AOAE or use the automated auditory brainstem response (AABR) test, with three small sensors on the head and neck and soft headphones, taking 5 to 15 minutes. Neither harms your baby.

You get the result as soon as the test is done. If there is no clear response from one or both ears, an audiology appointment is arranged and you should be seen within 4 weeks. That appointment usually takes 1 to 2 hours including settling time, and a referral does not mean your baby has permanent hearing loss.

Consenting, declining and changing your mind

Every one of these tests is offered rather than imposed. A healthcare professional will ask you before each one, and you can say no to any of them individually — declining the hearing screen does not affect the blood spot test, and declining one blood spot condition is possible in some circumstances, though the sample is analysed as a panel.

If you decline the hearing screen you will be given checklists to monitor your baby's responses to sound as they grow, and you can ask for the test later through your health visitor, GP or local audiology department. If you decline the blood spot test and change your mind, speak to your midwife, health visitor or GP; they can tell you whether your baby is still within the window for a useful result. Some of the conditions are treatable only if caught in the first weeks, which is the reason the timing is tight rather than arbitrary.

If your baby is in a neonatal or special care unit, all three tests can be done there, and the timing may be adjusted — blood transfusions and premature birth both affect when a blood spot sample is valid, so the unit may repeat it. Babies who spend more than 48 hours in intensive care are also in the higher-risk group for hearing loss, so the hearing screen matters more rather than less.

Where to get help

The NHS is the governing authority for newborn screening in the UK. Screening does not catch everything and hearing can change as a child grows, so use the checklists in the red book and raise concerns with your health visitor or GP at any point. If you declined a test and change your mind, ask — the blood spot test in particular can often still be done later.