Newborn Screening Awareness Month 2019: What Parents Need to Know

September is National Newborn Screening Awareness Month, a time to help raise awareness of newborn screening among parents (new and expecting), healthcare professionals, and the public. Right now, the Newborn Screening Reauthorization Act is being evaluated by Congress and may or may not be renewed for another five years. (It could expire on September 30.) Why is this important? According to organizations and advocacy groups such as the Muscular Dystrophy Association (MDA) and Parent Project Muscular Dystrophy (PPMD), this key piece of bipartisan legislation allows for federal activities to assist states in both expanding and improving their newborn screening programs, supporting education for parents on newborn screening and also ensuring quality and surveillance. The MDA says, 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). Newborn screening identifies serious conditions before symptoms appear. The passage of the act will help move research forward and secure the overall program for years to come. It also keeps the Newborn Screening Saves Lives Act funded.

What is newborn screening?

The screening process uses only a few drops of blood from the baby’s foot to test for over 50 different conditions within the first 24-48 hours after birth. Early detection prevents serious problems such as brain damage, organ damage and even death and also identifies serious abnormalities at birth. Some of the most common diseases that can be detected in newborn screenings are critical congenital heart defects, hearing loss, sickle cell disease, tracking, long-term follow-up and sometimes testing a second time to confirm results according to the Center for Disease Control and Prevention (CDC).

Newborn screening practices vary by state. The American College of Medical Genetics (ACMG) recommends a core panel of 29 tests called the Recommended Uniform Screening Panel (RUSP). The RUSP was officially adopted in 2010 and many states still use the guidelines. The committee continues to add more tests to the lists of recommendations as the discover new disorders that can be found through early detection testing. Each new test that is proposed to add to the list needs to go through legislation and be approved to be added.

Newborn screening in New York state

In New York state, newborn screening is required for all babies unless the parents have a strong religious objection. According to the Wadsworth Center, Department of Health, if parents choose not to have the baby screened, they must sign a formal document authorizing the hospital to forgo testing.  Most medical professionals, hospitals and birthing centers strongly support newborn screening and recommend doing so.

The future of newborn screening

The topic of newborn screening continues to evolve. In 2010 the National Institute of Child Health and Human Development (NICHD) sponsored a scientific workshop called Newborn Screening in the Genomic Era to bring together newborn screening and genomic researchers to identify a research agenda aimed at exploring whether genomics can be applied to newborn screening and child health. This workshop led to a program that applies genomic sequencing and analysis to newborn screening and also investigates the ethical, legal and social implications of such genomic research for individuals and families. The program is funded by the NICHD and the National Human Genome Research Institute (NHGRI).

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 as factors in child development, or drastically reduce or minimize their impacts on growth.

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