Newborn Screening Test

Evidence  

https://www.mdpi.com/2409-515X/10/1/6

Fiona Lynch, Stephanie Best ,Clara Gaff ,Lilian Downie ,Alison D. Archibald ,Christopher Gyngell, Ilias Goranitis ,Riccarda Peters ,Julian Savulescu ,Sebastian Lunke, Zornitza Stark and Danya F. Vears  

Newborn screening testing (NBST) is a highly successful population screening initiative in many parts of the world. Developed by Robert Guthrie in the 1960s, the first NBST test used a blood sample collected from a heel prick onto filter paper (now known as the Guthrie card) to test for phenylketonuria. While some conditions (such as congenital hypothyroidism and cystic fibrosis) were added in the 1970s and 80s, the 1990s saw an expansion of the number of conditions included in NBST panels with the introduction of tandem mass spectrometry technology. Today, NBST programs around the world are highly successful, operating in many countries at relatively low cost with near-universal uptake. 

Education 

A newborn screening test (NBST), also known as newborn screening, newborn bloodspot screening or a heel prick test, is a routine screening procedure performed shortly after birth to detect certain genetic, metabolic, and congenital disorders that may not be apparent at birth but could lead to serious health problems if left untreated. 

During the NBST, a few drops of blood is collected from the baby's heel using a lancet. The blood sample is then placed on a special filter paper and sent to a laboratory for analysis. The laboratory tests the blood sample for specific markers or abnormalities associated with various conditions. 

Early detection of a condition through newborn screening allows for prompt intervention and treatment, often before symptoms develop, improving the long-term health outcomes for affected babies. 

Newborn screening is performed within the first few days of life, and often before the baby is discharged from the hospital. In most cases, the results are normal. Parents are informed of the screening result if a positive result is obtained, further diagnostic testing and treatment options will then be discussed. 

Empowerment  

As a parent or caregiver, it is hard to watch your baby go through medical tests and procedures that may cause them pain. Parents and families play an important role in comforting babies during painful procedures but are often unaware of these strategies and their positive effects in reducing pain. 

Breastfeeding and holding babies’ skin-to-skin (Kangaroo care), are two simple and effective family-centred strategies to reduce babies’ pain, 

If your child has been diagnosed with a genetic condition, it may be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand a condition and what causes it, how it is inherited (if it is), and what a diagnosis means for your child’s health and development, and for your family. 

Useful Links 

Australian Health Ministers Advisory Council 

https://www.health.gov.au/sites/default/files/documents/2020/10/newborn-bloodspot-screening-national-policy-framework.pdf 

Miracle Babies Foundation – Be Sweet to Babies  

https://www.miraclebabies.org.au/content/partnering-with-parents-to-improve-pain-treatments-for-sick-and-newborn-babies/gjj5gf 

Genetic Alliance Australia  

https://www.geneticalliance.org.au/ 

Pregnancy, Birth and Baby 

https://www.pregnancybirthbaby.org.au/neonatal-screening-test