Your bundle of joy just greeted the world with a resounding cry. The baby looks healthy, and the family is thankful for the gift of life. Yet, before you can celebrate, a nurse comes by and informs you a screening test needs to be done. The newborn screening test is a standard in many countries today.
Screening for Newborns
A seemingly healthy newborn may still have a rare metabolic, genetic, or infectious disease. Newborn babies are usually subjected to a simple blood test to determine the presence of certain conditions. The test can make a huge difference in the life of the baby. Early diagnosis makes way for early treatment and therapy intervention, when necessary.
Early Diagnosis and Identification
Typically, a blood sample is taken with a heel stick. Another component of the procedure is a hearing test. Meanwhile, pulse oximetry assesses the degree of oxygenation of the newborn’s blood.
A general pediatrics practitioner helps parents identify the best treatment protocol for children who are born with metabolic and genetic diseases that may be associated with mental retardation and developmental delay. Today, the importance of newborn screening tests cannot be emphasized enough. Whether you’re in Salem or New York, as many as 5,000 infants present with positive results for rare inborn diseases. Early identification of the problem facilities provision of medical, surgical, and therapy intervention appropriate to their needs.
A Test for Phenylketonuria
The first newborn screening test was administered by a doctor named Robert Guthrie. The test was specifically intended for phenylketonuria, an inborn metabolic disorder associated with an abnormality in the metabolism of phenylalanine. Phenylalanine deficiency is associated with developmental delay, intellectual disability, and behavioral problems. It was first used the 1960s.
The Purpose of Newborn Screening
The purpose of a screening test is to determine risk for certain conditions or a set of conditions. A screening test is administered long before the symptoms manifest. Nevertheless, screening tests are not designed to rule out and confirm the presence of a condition, unlike diagnostic tests. To verify a diagnosis, further tests and follow-ups must be performed.
Today, a number of conditions can be identified in standard newborn screening tests. The conditions vary but cover many of the known inborn metabolic, genetic, and infectious conditions that could have deleterious effects on the infant as he or she grows up. The public health department of the state usually determines the contents of the standard and expanded panel of newborn screening tests.
Disorders Included in Newborn Screening Programs
Aside from phenylketonuria, there are a number of disorders listed in standards of newborn screening packages. These are sickle cell disease, congenital hypothyroidism, maple syrup urine disease, and congenital adrenal hyperplasia, among others. These and other serious medical conditions would affect the child’s ability to function and participate in daily life. For some disorders, the best course of action is to start treatment immediately. An integrated, multidisciplinary approach is often helpful and must be availed as early as resources allow.
Health problems that are otherwise hidden from view can be determined by newborn screening tests. Allow your baby to be tested, and wait for the results. Listen to the advice of your pediatrician on the best course of action if and when the test returns positive for a disorder.
