Neonatal screening is a crucial medical examination performed on babies shortly after birth. This screening program is designed to detect serious congenital conditions early, allowing for prompt intervention and treatment. The goal of this screening is to prevent life-threatening complications and permanent damage, and to improve the overall health and quality of life of the newborn.
On this page:
- How does the neonatal screening and heel prick work?
- What is a PKU screening test?
- Why is neonatal screening performed?
How does the neonatal screening work?
Between 48 and 96 hours after birth, a small blood sample is taken from the newborn. This is usually done in the hospital, but for home births or outpatient deliveries, a general practitioner or midwife will take the sample.
The procedure is commonly known as the "heel prick test" because the sample is obtained by making a small puncture in the baby's heel. A few drops of blood are then collected onto a special filter paper card.
Analysis of the blood sample can provide important information about serious congenital conditions, such as phenylketonuria (PKU) and tyrosinemia (TYR). If an abnormal result is found, the doctor listed on the card will contact you to explain the next steps. Early detection and treatment of these conditions can prevent serious, long-term health problems.
What is a PKU screening test?
The PKU screening test is one specific test that is part of the neonatal screening (heel prick). PKU stands for phenylketonuria, a rare, inherited metabolic disorder in which the body is unable to properly break down the amino acid phenylalanine. If PKU is not treated, a buildup of phenylalanine in the blood can lead to serious brain damage and other health problems.
Why is neonatal screening performed?
The primary goal of neonatal screening is the early detection of serious conditions that are not visible at birth but can have severe consequences if not treated promptly.
This population screening is offered to all newborns and is funded and coordinated by the government, making the blood sampling and tests free of charge for parents. Participation is voluntary and requires parental consent.
Conclusion
Neonatal screening plays a crucial role in the early detection and treatment of congenital disorders, significantly improving the health and well-being of newborns. Through continued education, research, and policy development, the benefits of neonatal screening can be further enhanced, giving even more children a healthy start in life.
