September is Newborn Screening Awareness Month

What it is

Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions, mostly genetic, that without intervention may permanently impact them and their families. This testing is required in every state, because the earlier these disorders are recognized and treated, the better the outcome for the newborn. The Newborn Screening Program's goal is to help affected babies live as long and normal of a life as possible.

Health care providers are careful to ensure that newborns with abnormal test results receive appropriate confirmatory diagnoses and treatment.

-Janice Berliner, 2020

How it Works

A few drops of blood are taken from the newborn's heel before he or she leaves the hospital, and are tested for as many as 50 genetic, endocrine, and metabolic disorders. New disorders are added to the panel as reliable testing is developed. A newborn with one of these disorders may look healthy at birth, but may have devastating loss of abilities without intervention; the earlier treatment is started, the better the outcome is for the newborn. Bear in mind that most newborns will not have one of these disorders and that, conversely, not every disorder is picked up with newborn screening. Thus, a negative test does not guarantee that the baby does not have some type of congenital anomaly or genetic condition. Genes are the basic units of heredity passed down from our mothers and fathers. For a child to have one of the disorders screened for in this manner, both the mother and father must pass down a mutated copy of the same gene.

What Happens Next

Health care providers are careful to ensure that newborns with abnormal test results receive appropriate confirmatory diagnoses and treatment. The ability to detect life-altering and life-threatening conditions very early in life has made it possible to virtually eliminate many of these conditions or drastically reduce or minimize their impacts on growth. Perhaps the most well-known example of this is phenylketonuria, or PKU. This is a rare disorder that prevents the body from properly breaking down the amino acid phenylalanine (Phe). Phe is found in many foods and in the artificial sweetener aspartame. If one has PKU and eats these foods, Phe builds up in the blood. This can permanently damage the nervous system and brain, causing a variety of health problems including seizures, psychiatric problems, and severe intellectual disability.

Relevant Legislation

Right now, the Newborn Screening Reauthorization Act, which is set to expire at the end of September, is being evaluated by Congress, and may or may not be renewed for another five years. This bipartisan legislation allows for federal activities to assist states in expanding and improving their newborn screening programs, supporting education for parents on newborn screening, and ensuring quality and surveillance. If this bill becomes law, it will allow more states to be able to begin screening for neuromuscular conditions such as Pompe Disease and Spinal Muscular Atrophy (SMA), which are on the federally recommended list of conditions for which babies should be tested, called the Recommended Uniform Screening Panel (RUSP). Currently, some states screen for these disorders and some do not.

For more information, I am proud to send you to this wonderful video created by my former student, genetic counselor Allison Wood, MS, at https://www.youtube.com/watch?v=TVnp-PR-9Fg . For a novel revolving around a baby with a genetic disorder that can be detected with newborn screening, and how the family copes and triumphs, please see janiceberliner.com for information and details about my first book, Brooke's Promise.