Newborn Screening Awareness

Articles

Sep 1

Newborn screening tests can change lives and save lives. Throughout September, we aim to promote the conversation about newborn screening awareness. Every year, millions of infants in this country receive a health screening that helps parents learn about any potentially life-altering conditions or chronic ailments they can plan to manage. A simple blood test can determine whether a newborn has any genetic disorders, a simple test is performed for hearing ability, and the heart is examined to detect any congenital heart defects. The greatest benefit of newborn screening is that problems may be detected before any symptoms are present. This month, help us in promoting this conversation about the importance of newborn screening in your community and family.

What is Newborn Screening?

Within the first 48 hours after a baby is born, a healthcare professional will draw a very small amount of blood from the baby’s heel. This blood is then tested for a number of conditions that would not be apparent at birth but could present disabilities and issues later in life. In addition to the blood test, many newborns also receive a hearing test and a test to measure the amount of oxygen carried in their blood.

Newborn screening tests were implemented in the US around 50 years ago, but one important aspect to be aware of is that each state administers different tests to newborns. Some states will test for certain conditions that other states do not. Depending on the state you live in, it may be wise to learn what conditions are screened and take action to screen your newborn for additional conditions if you are aware of a risk factor or genetic predisposition.

Effects of Newborn Screening

Although not all diseases or conditions are treatable, newborn screening can help parents address disorders immediately in a proactive way. Approximately 3,000 newborns test positive each year for one of the 50 diseases involved in newborn screenings. Because some of these conditions can be detected at birth, parents are able to engage in early intervention programs to help their child immediately, rather than when symptoms occur. Learning about any potential disorders while the newborn and mother are still at the hospital or healthcare facility also means that treatment can be immediate if emergency intervention is needed.

Understanding Newborn Screening Tests

Although the specific disorders included in the newborn screening will differ from state to state, there are a few types of tests which are generally conducted. As medical and technological advancements are made in the future, these tests may be expanded. Newborn screening often includes the following:

Hormone Test

A blood test can help indicate whether a hormonal problem is present in a newborn which could lead to disorders such as congenital hypothyroidism or congenital adrenal hyperplasia.

Metabolic Test

Enzymatic proteins help make the body’s metabolism function properly. Newborn screening can involve metabolic tests to detect disorders such as phenylketonuria (PKU), tyrosinemia, citrullinemia, maple syrup urine disease (MSUD), medium-chain acyl CoA dehydrogenase deficiency (MCAD), or methylmalonic acidemia.

Hemoglobin Test

Red blood cells contain a protein called hemoglobin, which supplies the body with oxygen in the bloodstream. Some disorders associated with issues involving hemoglobin are sickle cell disease, beta-thalassemia, and hemoglobin SC disease.

Additional Tests

In addition to these specific types of tests, newborn screening may include testing for cystic fibrosis, spinal muscular atrophy, and other kinds of deficiencies or diseases.

Newborn Screening Results

Parents do not need to request a newborn screening, rather they a routine test performed after a baby is born. Generally, the test results will include plain language that can be easily understood by parents or family of the newborn. The results will typically outline the conditions included in the test, the clinical name of the disorder, and the resulting risk factor. It may indicate that a newborn is of high risk, low risk, or in need of another screening to determine the risk of the condition.

Resources for Expecting Parents

To aid parents in their understanding of what conditions are involved in their state’s screening requirements, Baby’s First Test offers a state-by-state breakdown as well as a database for researching specific conditions. This resource also provides a full list of all of the conditions included in each state’s newborn screening. In addition to providing these specific resources, they help provide answers for questions on many expecting parents’ minds related to these screening tests.

If you or someone you know has recently received newborn screening results indicating a chronic disease or other disorder, early intervention is the best next step. Work with healthcare providers to learn about treatment plans and options that are appropriate for your family. Pediatric occupational, physical, and speech therapists offer therapeutic intervention and early intervention for many children with chronic disease or genetic disorders. The team at Tilton’s Therapy works with individuals throughout Southern Nevada, Northern Nevada, Oregon, and Hawaii. Contact our team to learn about how to become a new patient with our exceptional group of professionals.