Newborn Screening Tests

Newborn Bloodspot Screening Test

This test is also known as the ‘heel-prick test’. It identifies babies who may have rare but serious inherited conditions, which are treatable if detected early in life. Early treatment can improve their health and prevent severe disability and even death. The conditions are phenylketonuria (PKU), maple syrup urine disease, homocystinuria, classical galactosaemia, cystic fibrosis and congenital hypothyroidism.

When your baby is due to have the heel prick test, you will be given information and asked to sign the newborn screening card to confirm that you have received information about the programme, that the information about your baby is correct and that you consent to the test being done.

Screening your baby for these conditions is strongly recommended, however it is not compulsory. The test is done between 72 and 120 hours after your baby is born, so it may be done by a midwife or else by the public health nurse. The midwife will prick your baby’s heel using a special device to collect some drops of blood onto a special card, which is then sent away for testing. Occasionally a second blood sample from your baby’s heel will be required. If the test results show that your baby does not have any of the conditions, you will not be contacted.

All babies born in the Rotunda are offered newborn hearing screening before they are discharged. This will screen for congenital nerve deafness. The test takes place at the bedside for well babies and in the neonatal unit for babies admitted there for more than 48 hours. The test takes just a few minutes. A failed test in either or both ears does not necessarily mean your baby has a serious hearing loss, but may be due to the ear canals being full of fluid following birth. If your baby fails three tests they will be referred for a more advanced specialist hearing assessment.

If you are discharged home before the screening test an outpatient appointment will be arranged for your baby to have the test. For the small number of babies who have nerve deafness, early detection means they can be fitted with hearing aids as early as three months. This reduces the long-term speech and social interaction difficulties that come from not having hearing in the normal range. Without newborn hearing screening most of these babies would not be detected until close to three years of age. If your baby passes the test but there is a strong family history of nerve deafness or you have concerns regarding your baby’s ability to hear you will be offered specialist screening around nine months of age.