List of disorders included in newborn screening programs

Newborn screening is a public health program aimed at the early identification of conditions that can affect a child's long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Each country or region may have different policies regarding which disorders are included in the screening program. This article provides an overview of common disorders included in newborn screening programs worldwide, emphasizing the importance of these screenings in preventive healthcare.

Overview

Newborn screening involves testing newborns for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. These screenings typically involve a blood test taken from a heel prick 24 to 48 hours after birth. The conditions screened can be genetic, metabolic, hormonal, or functional in nature. The goal is to ensure early intervention to prevent serious health problems or death.

Common Disorders Included in Newborn Screening Programs

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetic disorder that increases the levels of a substance called phenylalanine in the blood. If untreated, PKU can lead to intellectual disability, seizures, and other serious health problems.

Congenital Hypothyroidism

Congenital Hypothyroidism is a condition where the thyroid gland doesn't produce enough thyroid hormone. Early diagnosis and treatment can prevent intellectual disability and growth failure.

Galactosemia

Galactosemia is a condition that affects how the body processes a simple sugar called galactose. Without treatment, galactosemia can lead to liver damage, cataracts, and intellectual disability.

Sickle Cell Disease

Sickle Cell Disease is a group of inherited red blood cell disorders. Early detection and treatment can prevent pain, acute chest syndrome, and stroke.

Cystic Fibrosis

Cystic Fibrosis is a genetic disorder that affects the lungs and digestive system. Early treatment can improve quality of life and increase lifespan.

Maple Syrup Urine Disease

Maple Syrup Urine Disease (MSUD) is a metabolic disorder that causes a buildup of certain amino acids. Untreated, it can lead to severe brain damage or death.

Biotinidase Deficiency

Biotinidase Deficiency is a disorder that prevents the body from recycling the vitamin biotin. Without treatment, it can lead to neurological and cutaneous symptoms.

Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a disorder that affects the body's ability to break down certain fats. It can lead to life-threatening hypoglycemia.

Screening Procedures

The screening procedure typically involves taking a few drops of blood from the newborn's heel. The blood is then tested for the specific markers of the disorders included in the screening program. Parents are usually informed of the results within a few weeks. If a screening result is positive, further testing is conducted to confirm the diagnosis.

Conclusion

Newborn screening is a critical step in early childhood care, offering a powerful means of identifying and mitigating conditions that can significantly impact a child's health and development. By understanding the disorders included in newborn screening programs, parents and healthcare providers can better advocate for and support the health of newborns.