Common Neonatal Screening Tests Every Newborn Should Undergo

For many, a newborn may seem perfectly healthy, but from inside, they may be carrying a disorder that can affect them in a later stage of life. Newborn screening tests play an important role in detecting these disorders early on. This early diagnosis helps plan an early treatment option and prevent any severe complications, such as brain damage, organ failure, or any other developmental issues.

Early treatment allows babies to grow, develop, and flourish without being restricted by preventable illness. Screenings also have a crucial part in preventing disability and death, with many families feeling reassured. Essentially, screening tests are an easy yet effective first step in safeguarding the health and welfare of a child.

Here is a list of some of the common newborn screening tests that remain the same all over the world:

Biotinidase Deficiency Screening:

• What it is: It is a genetic disorder in which the body cannot recycle the vitamin biotin, essential for energy and cell growth.
• Why newborns are screened: Early biotin deficiency may not be serious in the beginning, like in babies, but can lead to serious health issues.
• Complications if undetected and untreated: Undetected and untreated disorders can lead to serious problems of seizures, developmental issues, breathing problems, vision and hearing loss.
• Benefits of Early Detection: Early detection leads to early treatment, which eventually prevents long-term damage. This also allows better growth and development of babies.

Congenital Hypothyroidism Screening:

• Condition Overview: Congenital hypothyroidism is caused by the lack of production of enough thyroid hormones for normal growth and brain development. This condition may arise due to the dysfunction of the thyroid gland at birth.
• Why Screened: Newborns barely show symptoms for this disorder, hence, need to be screened through this specialised test.
• If untreated: A lack of thyroid hormones can lead to poor growth, intellectual disability, sluggishness, and feeding difficulties.
• Importance of detection: Early detection can help start early hormone replacement therapy to support normal brain and physical development.

Cystic Fibrosis Screening:

• What is it: It is also a genetic disorder, which causes the accumulation of thick mucus in the lungs and digestive system.
• Early Signs: Cystic fibrosis shows some early symptoms, which include frequent cough, breathing problems due to mucus in the lungs, and difficulty gaining weight.
• Risks if Missed: Cystic fibrosis screening must not be missed, as if missed, it can lead to repeated infections, poor nutrient absorption, and long-term damage to the lungs.
• Why Screened: Screening leads to early detection and, therefore, early treatment, which is helpful for improving lung function, digestion, and overall health.

Galactosemia Screening:

• What it is: It is another genetic disorder that prevents the breakdown of a type of sugar present in milk — galactose.
• Risks if Untreated: Untreated galactosemia can lead to severe conditions like liver damage, jaundice, poor feeding, infections, and developmental delays.
• Why Screened: As galactose is linked with milk, the symptoms for this disorder can appear within a few days of milk feeding.
• Early Management: The treatment for this disorder includes early management by avoiding lifelong milk-based products and replacing them with soy-based alternatives.

Severe Combined Immunodeficiency (SCID) Screening:

• Condition Overview: These are very rare immune disorders of babies, in which babies have a weak immune system, not even able to fight infections.
• Why Screened: These babies may look healthy, but can become extremely vulnerable and ill with the first stroke of infection.
• If untreated: Even a small infection can become fatal in untreated Combined Immunodeficiency disorder.
• Importance of Early Detection: Early detection allows timely treatments to regain a better immune system function, like a bone marrow transplant.

Phenylketonuria (PKU) Screening:

• What it is: PKU is another genetic disorder where the body cannot process and use the amino acid phenylalanine.
• Risks if Missed: The unprocessed amino acid leads to its accumulation, which can eventually damage the brain cells, causing intellectual problems in children.
• Why Screened: Newborns with this disorder may appear normal, but its buildup can lead to irreversible damage to the brain. Therefore, early detection along with early treatment can help manage such a disorder.
• Treatment: The treatment includes immediate medical intervention and a specialised lifelong low-phenylalanine diet.

Sickle Cell Disease Screening:

• What it is: Sickle Cell Disease is a genetic disorder which causes the blood cells to become sickle-shaped, rather than their normal disc-like structure.
• Risks if Untreated: Untreated disorder leads to sticking of these unusual-shaped cells together, ultimately causing a lack of blood supply throughout the body.
• Why Screened: It is a fatal disorder causing anaemia, infections, and blocked blood flow, making it an important test in newborn screening tests.
• Early Management: The treatment for this disorder includes early management, that is, close monitoring to reduce the risk of any complications.

Toxoplasmosis Screening:

• Condition Overview: This is a disorder which is mostly passed from mother to baby during the gestation period.
• Risks if Untreated: If untreated, toxoplasmosis can lead to vision loss, hearing problems, or even developmental delays in the later stages of life.
• Why Screened: This disease is majorly asymptomatic, meaning it doesn’t show any symptoms; hence, prompt screening is done to detect this disorder.
• Early Treatment: Early treatment can help reduce the chances of long-term effects, ensuring a better quality of life for children later in their lives.

The newborn screening tests are generally performed within 24 to 48 hours after birth. Almost all these tests are simple, safe, and quick, and carried out with great precision to detect any hidden conditions early on. These tests are generally conducted by three main procedures, which include:

• Blood Tests: Blood tests are conducted by taking a small drop of blood from the baby by pricking their heel to check for genetic, metabolic and hormonal disorders.
• Hearing Test: Certain sensors and soft sounds are used to detect any signs of hearing loss in children.
• Other Screenings (Varies by Country): As mentioned earlier, several other screening tests are also conducted, which differ on a country-by-country basis.

These simple procedures can prevent your baby from lifelong conditions with early diagnosis and, eventually, timely treatment.

Neonatal screening tests can feel stressful, but note that these tests aim to protect your child, and not scare or alarm you. Mostly, these test results are normal and can offer you, as parents, reassurance and peace of mind. But if any of these test results are abnormal, then that does not always mean that your child is sick; it just means that your child needs some extra tests for confirmation.

If the follow-up tests also show positive results, don’t panic, as most of these disorders are very much manageable if detected early on. Mark that almost every condition screened through these tests is treatable with timely medical care and support, allowing children to grow and thrive without any developmental hindrance.

The newborn screening tests are a powerful tool and the most important part of neonatal care. These quick and simple tests are designed to save the lives of these little creatures. Also, these life-saving tests ensure that silent conditions are caught early before they get worse. For parents, a yes to screening is a critical step toward providing their baby with the healthiest beginning. Even when results need follow-up, early detection means early treatment—and that can be the difference-maker. By getting these screenings completed, families are investing in a healthier, brighter future for their infants. Early care really does mean a healthier future.