Newborn Screening

Expert / 7 September, 2023 / My Baba

Once your baby arrives, there will be some newborn screening options available to you to test your baby for health conditions or impairments. These are all optional, and having information ahead of time is helpful in allowing you to understand what they are recommended for. Whilst most babies will have no issues and a normal screening result, for babies whose conditions are recognised, the ability to treat them early can make a big difference in improving their health and preventing further complications.

What is included in a newborn screening test?

Newborn and Infant Physical Examination (NIPE)

The first screening you will be offered is called a Newborn and Infant Physical Examination (NIPE). This is performed soon after birth, within the first 72 hours, and again by your GP at your 6-8 check-up. This examination is a thorough check of your baby’s eyes, heart and hips, and for boys, testicles. This examination is repeated at 6-8 weeks because some conditions may take a while to develop in babies and not be seen at the initial examination.

The practitioner doing your NIPE will use a specially designed torch to look at your baby’s eyes and the movements they make to screen for cataracts and other eye abnormalities. They will also listen to your baby’s heart to check for no unusual sounds or murmurs and feel for the pulse points on their body. Your baby’s hips will also be checked to make sure they are fully developed and there is no dysplasia and if you have a baby boy, they will also examine his testicles to ensure they are in the right place.

Your healthcare professional will inform you of their findings straight away and advise you if any additional tests or checks, such as scans, are recommended.

Automated Otoacoustic Emission Test

The next screening test you will be offered is to check your baby’s hearing. This test is called the automated otoacoustic emission (AOAE) test and is very quick to perform. Some clicking noises are gently played into your baby’s ear via a small, soft earpiece to see if there is a response. It is not always possible to get a clear result in the first test as it can be impacted by background sounds, an unsettled baby or temporary fluid in baby’s ear. If a definitive result can’t be found, you will be offered a repeat test.

Hearing screening is usually offered very soon after your baby is born but it can be completed up to 12 weeks after birth and you will be informed of the results instantly. Identifying babies who have permanent hearing loss as soon as possible allows parents to get support and allows baby to develop communication skills and their language and speech with additional help.

Newborn Blood Spot Screening Test

At around 5 days old, you will be offered a Newborn Blood Spot screening test where a small sample of blood is taken from the heel of your baby, and a few drops of blood are collected onto a piece of card. This is sent off and tested for nine rare but serious health conditions: Sickle Cell Disease, Cystic Fibrosis, Congenital Hypothyroidism, Inherited Metabolic Diseases (Phenylketonuria, Medium-chain-acyl-CoA dehydrogenase deficiency, Maple Syrup Urine Disease, Isovaleric Acidaemia, Glutaric Aciduria Type 1 and Homocystinuria) and, in some areas of England, Severe Combined Immunodeficiency.

Screening: choosing which conditions to test for

Most babies will not have any of these conditions, but for those who do, they can be very serious and early detection could be lifesaving. You can choose to have screening for all nine conditions, only for certain ones or none at all if you wish. You will usually receive the results via a letter in the post by the time your baby is 8 weeks old, but if your baby does test positive for a condition, you will be contacted sooner. Your baby may become agitated or upset during the heel prick test to take 4 drops of blood, so comforting your baby, breastfeeding, or cuddling during the test is advisable to help keep them calm. It is also easier to perform if baby’s foot is warm, so planning ahead with extra socks will make it quicker and simpler.

It is important to be mindful that all these tests are screening tests and not diagnostic, which means a positive result may not mean your baby definitely has the condition tested for but that additional tests are recommended for a definitive answer. Your healthcare practitioner will be happy to answer any questions you have before a test is carried out and your informed consent will be required for each test.

Article by Midwife Pip, Expert, Podcaster & Online Courses

Midwife Pip is a truly passionate midwife and advocate for the profession, bursting with knowledge. Pip is an experienced, practicing Midwifery Sister with over 10 years experience, MSc graduate, founder of Midwife Pip Podcast, Hypnobirthing and Antenatal Educator, co-author of published research and, importantly, a mum. With a strong presence on social media, supporting mums on a daily basis in person and online.

Instagram: @midwife_pip

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