Screening

Neonatal Services

Blood spot

Within the first or second week after birth, you will be offered a blood spot screening test for your baby. The purpose of screening is to identify babies who may have phenylketonuria, congenital hypothyroidism, sickle cell disorders or cystic fibrosis, all rare but serious conditions.

Most babies screened will not have any of these conditions but, for the small number of babies who do, the benefits of screening are enormous. If left untreated, these disorders can lead to illness, physical disability, developmental delay, or death.

Early treatments with medications, special interventions, or changes in diet help to prevent most health problems caused by these conditions.

Screening your baby for all of these conditions is strongly recommended, but it is not compulsory. If you do not want your baby screened for any or all of these conditions either discuss it with the neonatal nurses in NICU and SCBU. Your decision will be recorded in mums and babies notes. If you and your baby have been discharged and you do not think your baby has been screened speak with your community midwife or GP.

Blood spot results

Most babies will have normal results, indicating that they are not thought to have any of these conditions. A health professional will usually let parents know the screening results and record it either in their baby's notes or in the baby's personal child health record by the time the child is 6-8 weeks old.

If a baby is thought to have one of the conditions, he or she will need further tests to confirm the result.

For further information on newborn blood spot screening please ask staff for a leaflet.

> UK Newborn Screening Programme Centre

Phenylketonuria (PKU)

Babies with this inherited condition are unable to process the essential amino acid phenylalanine. Amino acids are the building blocks for body proteins. Phenylalanine is in almost all foods. If the phenylalanine level gets too high, it can damage the brain resulting in severe learning disabilities.

Screening means that babies with this condition can be treated early through a special diet, which will prevent severe disability and allow them to lead a normal life.

If babies are not screened and are found later to have PKU, the damage is irreversible and it may be too late for the special diet to make a real difference. Therefore, early detection through screening is essential.

Congenital Hypothyroidism (CHT)

Congenital hypothyroidism (CTH) is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism). Babies with CHT do not have enough of the hormone thyroxine. Thyroxine is produced by the thyroid gland, a butterfly-shaped tissue in the lower neck.

Without the hormone thyroxine babies do not grow properly and can develop serious, permanent mental and physical disability.

Screening means that babies with CTH can be treated early with thyroxine tablets, which will prevent serious disability and allow them to lead a normal life.

If babies are not screened and are later found to have CTH, it may result in serious, permanent learning and physical disabilities.

Sickle Cell Disorders (SCD)

These are inherited disorders affecting the red blood cells. Red blood cells contain a special protein called haemoglobin (Hb for short). The function of haemoglobin is to carry oxygen from the lungs to all parts of the body. If a baby has SCD, their red blood cells can change to a sickle shape and become stuck in the small blood vessels. This can lead to these small blood vessel 's getting blocked which then stops the oxygen from getting through to where it is needed. This in turn can lead to severe pain and damage to organs, serious infection, or even death.

Screening means that babies with SCD receive early treatment, including immunisations and antibiotics, which, along with parent education, will help prevent serious illness and allow the child to live a healthier life.

Cystic Fibrosis (CF)

Cystic fibrosis (CF) is a hereditary disease affecting the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus. This makes it hard to breathe and digest food. Babies with CF may not gain weight well, and have frequent chest infections.

Although there is no cure for CF, early screening and diagnosis will allow affected individuals to be treated with a high energy diet, medicines and physiotherapy at an early stage and can significantly improve their quality of life.

Eye sight

Children who are born very prematurely may develop eye problems. If your baby was born before 32 weeks of pregnancy or weighed under 1500g, an ophthalmologist (hospital eye specialist) will be asked to examine your baby's eyes for retinopathy of prematurity (ROP). The ophthalmologist will initially see your baby four to five weeks after delivery and then re-examine your baby's eyes every week or fortnight after that or until it is felt your baby is no longer at risk. The eye examinations will be performed in the eye clinic once your baby has been discharged home. If during admission your baby is transferred back to your booking hospital the eye examination will be performed there and the unit will be informed of when it is due.

Eye examination

The eye examination is carried out at the cot-side in the neonatal unit. Your baby is given some eye drops about an hour before the examination which will dilate your baby's pupils to make it easier for the ophthalmologist to see the back of both eyes. The nurse looking after your baby will assist the doctor by holding your baby still while the eye examination is performed. Just before the examination a numbing anaesthetic drop is put in each eye. It is necessary to use a small clip (speculum) to keep the eyelids open and a probe to move the eye into different positions so that the whole retina can be seen.

Premature babies are sensitive to any handling and although the examination may be stressful its importance in preventing blindness means that the eye examination must be carried out. The ophthalmologist is trained to perform the examination quickly with minimal discomfort to your baby. Your baby may cry because he/she is being examined and it is a bit uncomfortable but as soon as the examination is over he/she will settle back to sleep. Following the examination your baby's eyes may be a little red or swollen but this will usually settle within 24 hours.

Follow up and further examination

As well as being examined in the NICU babies who are born very prematurely should also be seen by a hospital eye specialist (Orthoptist or Ophthalmologist) during the first few years to ensure that their vision is developing normally.

Any Other Questions?

The ophthalmologist visits the neonatal unit on a weekly basis. If you have any questions regarding your baby's eyes or vision please ask the nurse or doctors looking after your baby when this visit is due and the ophthalmologist will be pleased to discuss your concerns.

Hearing

As a national programme, all babies will have their hearing tested before leaving hospital. If your baby's hearing is not screened before you leave hospital, ask your health visitor, midwife or GP to arrange an appointment.

Why Screen?

A small number of babies are born with a hearing loss, which is not easy to identify. Screening will allow those babies who have a hearing loss to be identified early. Early identification is known to be important for a child's development. This also means support and information can be provided to the parents at an early stage.

Risk factors for hearing loss

There are some known factors that may put a baby at risk of having a hearing loss, these include:

Some medical conditions
Other members of the baby's family have a hearing loss since birth or very early childhood
Babies that have needed special or intensive care in early infancy
Premature babies seem to be at a greater risk of having a hearing problem than term babies.

The hearing screen

The hearing screen uses two simple methods to check the hearing of babies. The test is straightforward, quick, non-invasive and painless.

The screening test will usually be done by a trained hearing screener or your health visitor while your baby is sleeping.

You can find out more about your baby's hearing screening from a ward based or community or your health visitor. The newborn hearing screening programme has leaflets available on all of the wards and has a website that provides further information:

> NHS Screening

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