About neonatal screening and examinations
After the baby is born, there are a number of screening programmes that aim to detect problems with the baby’s health, many of which are genomic in nature.
Newborn and infant physical examination (NIPE) screening programme
At 72 hours and again at six weeks after birth, the child will have a physical examination that looks for anomalies in the eyes (including retinoblastoma – a rare inherited condition) heart, hips and testes.
Read the NIPE screening programme handbook for more information.
Although these examinations are performed by trained nurses, midwives, neonatologists or GPs, it’s important that all midwives have an understanding of what will be done, what can be found and what this might mean for the family.
Newborn blood spot (NBS) screening programme
At five days old, newborns have a blood spot test which looks for nine rare conditions, six of which are inherited metabolic diseases, and another two are well characterised genetic conditions (sickle cell disease and cystic fibrosis).
It is crucial that a family history of any of the nine conditions is found earlier in the pregnancy so that an appropriate care plan can be created. In some cases, an early blood spot sample may be needed.
Samples should be sent to the screening laboratory for analysis on the same day they are taken, and parents should receive the results within six weeks.
The conditions are as follows:
The last six conditions on the list are metabolic. Without treatment, babies with these conditions can become suddenly and seriously ill.
If the baby is suspected to be at risk of a metabolic condition, special management is required depending on the condition. For example, MCADD can be especially complex, with strict requirements for feeding before blood spot test results come back. You can find comprehensive guidance here.To learn more about the importance of blood spot screening, read Emma’s story on Metabolic Support UK, and read the Public Health England guidance for the NBS screening programme.
Newborn hearing screening programme (NHSP)
Hearing screening is also offered soon after birth to identify congenital hearing problems, many of which are genomic in origin. The test is called the automated otoacoustic emission (AOAE) test, is non-invasive and takes just a few minutes.
In some cases, a second test will be offered because it is not always possible to get a clear response from the first test. This could happen for many reasons, and does not always mean that the baby has hearing loss. The second test could be the same as the first, or could be another type of a test, called the automated auditory brainstem response (AABR) test.
Although it is not mandatory, it is important to explain the benefits of hearing screening to parents. Finding out about hearing loss early gives babies a better chance of developing communication skills and makes sure that families have access to the support they need.
More information about the NHSP is available on the NHS website, with supporting guidance from Public Health England.
Good practice points
- Be aware that certain metabolic conditions, such as MCADD, dramatically affect the care plan during the neonatal period. Some may even require that an early blood spot sample be taken.
- Make sure that you are familiar with the different screening programmes, what the tests are, what the results could be, and what they could mean. Waiting to hear back about results can be an extremely stressful time for the family, and you can ease this burden of uncertainty by being a source of clear information.
- The neonatal period can be a high-risk time for the parent and child, with serious consequences for their health. Don’t take risks and stick to the care plan.