Detecting common disorders, even before symptoms appear, is the core objective of a Newborn Screening Test, as it enables you to identify the disorders at the earliest. The newborn screening test at MedGenome BabySecure is usually conducted 24 to 72 hours after birth and covers a wide array of metabolic and genetically inherited disorders, which can be life threatening if left untreated.
Why Is It Important?
Many babies appear healthy when born, but may be carriers of hidden disorders that are not immediately visible. With the Newborn Screening Test, a simple heel-prick blood sample serves as the gateway to timely treatment through advanced technologies like tandem mass spectrometry (TMS).
What Disorders Can Be Spotted?
Here are some key disorders that can be detected through the Newborn Screening Test:
- Phenylketonuria (PKU) – The problem pertains to the body’s inability to break down the amino acid phenylalanine; when left untreated, it can cause intellectual disability.
- Maple Syrup Urine Disease (MSUD) – An accumulation of certain amino acids takes place in the body, which can affect the nervous system if not treated.
- Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)– It manifests itself in fat metabolism and may appear through serious symptoms such as seizures or lethargy.
- Biotin Deficiency – It disfavours biotin recycling, essential for metabolism; it can cause some skin and hair problems and might also cause developmental delays.
Other Notable Conditions
- Congenital hypothyroidism (CH) means the inability of the thyroid gland to secrete hormones at birth, causing it to interfere with psychomotor development if left untreated. It arises from Congenital adrenal hyperplasia (CAH), which is a life threatening hormonal disorder without treatment.
- Cystic Fibrosis (CF) affects the lungs and digestive system, and early treatment can improve the outcome.
- Severe Combined Immunodeficiency (SCID) is an immunodeficiency disorder that causes infants not to have an immune system; hence, it must be detected early.
- Sickle Cell Disorders, Thalassemias, and Other Hemoglobinopathies are blood disorders that can affect oxygen delivery and compromise overall health.
Furthermore, the panel covers broader groups of metabolic disorders, including fatty acid oxidation disorders, sugar metabolism disorders, and purine/pyrimidine metabolism disorders.
Why Early Detection Makes a Difference?
Early detection of such diseases allows for:
- Timely treatment – Most diet modifications, supplements, hormone therapy, or medicines can start early.
- Better outcome – Brain, organ, or developmental damages that may have occurred due to late management of these conditions are prevented.
- Psychological care – Gives families certainty, while doctors can base their care on facts rather than speculation.
Conclusion
Newborn screening is a minimally invasive procedure where a baby’s heel is pricked or a tiny drop of blood is placed on a filter paper and is then tested using detection technologies like TMS. Sometimes one might also be asked for an additional urine sample, as it might be further analysed for metabolic purposes using the GC-MS method. The procedure itself seems like common knowledge, but make no mistake about it: there is a huge difference in early detection and diagnosis of hidden life-threatening diseases so the treatment may be offered in full without a moment’s delay to give solace to the families, knowing from day one that they are being helped to protect their baby’s health.
